| Clinical and molecular evaluation of 13 Brazilian patients with <scp>Gomez‐López‐Hernández</scp> syndrome |
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| Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome |
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| Biallelic loss of <i>OTUD7A</i> causes severe muscular hypotonia, intellectual disability, and seizures |
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| Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile |
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| Interdisciplinary care of children with trisomy 13 and 18 |
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| Physical fitness and activity level in Norwegian adults with achondroplasia |
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| A case of White–Sutton syndrome with previously described loss‐of‐function variant in <scp>DDE</scp> domain of <scp><i>POGZ</i></scp> (p.Arg1211*) and Kartagener syndrome |
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| <scp><i>ADAMTSL2</i></scp> gene variant in patients with features of autosomal dominant connective tissue disorders |
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| Vertical transmission of a large calvarial ossification defect due to heterozygous variants of <scp><i>ALX4</i></scp> and <scp><i>TWIST1</i></scp> |
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| Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2 |
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| Review of clinical and molecular variability in autosomal recessive cutis laxa <scp>2A</scp> |
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| Confirming the involvement of <scp><i>PIEZO2</i></scp> in the etiology of <scp>Marden–Walker</scp> syndrome |
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| Frontometaphyseal dysplasia 1 in a patient from Sri Lanka |
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| Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa) |
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| Sertraline as a treatment option for temper outbursts in <scp>Prader–Willi</scp> syndrome |
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| <scp>Cerebro‐oculo‐facio‐skeletal</scp> syndrome caused by the homozygous pathogenic variant <scp>Gly47Arg</scp> in <scp><i>ERCC2</i></scp> |
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| Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the <scp><i>WDR37‐PACS1‐PACS2</i></scp> axis |
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| Cardiac evaluation of patients with 22q11.2 duplication syndrome |
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| Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study |
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| Further delineation of a recognizable type of syndromic short stature caused by biallelic <scp><i>SEMA3A</i></scp> loss‐of‐function variants |
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| Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman |
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✓ |
✓ |
Chinese |
| <scp><i>TBX5</i></scp>‐encoded T‐box transcription factor 5 variant <scp>T223M</scp> is associated with long <scp>QT</scp> syndrome and pediatric sudden cardiac death |
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| Two loss‐of‐function <scp><i>ANKRD11</i></scp> variants in Chinese patients with short stature and a possible molecular pathway |
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| A pilot clinical trial with losartan in Myhre syndrome |
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| Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females |
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| Carpenter syndrome in a patient from Tanzania |
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| Quality of life in adults with achondroplasia in the United States |
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| Ciliopathies: Coloring outside of the lines |
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| Typical achondroplasia secondary to a unique insertional variant of <scp><i>FGFR3</i></scp> with in vitro demonstration of its effect on <scp>FGFR3</scp> function |
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| Dual molecular diagnoses in a neurometabolic specialty clinic |
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| Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities |
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| Pathogenic paternally inherited <scp><i>NLGN4X</i></scp> deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization |
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| Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes |
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| Distinctive facial features in <scp>Andersen–Tawil</scp> syndrome: A three‐dimensional stereophotogrammetric analysis |
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| Stargardt misdiagnosis: How ocular genetics helps |
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| Successful pregnancies in an adult with <scp>Meier‐Gorlin</scp> syndrome harboring biallelic <scp><i>CDT1</i></scp> variants |
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| In This Issue |
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| Table of Contents, Volume 185A, Number 1, January 2021 |
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| Genetic Variants Account for About 14% of Cerebral Palsy Cases |
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| Crispr Developers Win 2020 Nobel Prize for Chemistry |
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| Cover Image, Volume 185A, Number 1, January 2021 |
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| Publication schedule for 2021 |
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| De novo small deletion affecting transcription start site of short isoform of <scp><i>AUTS2</i></scp> gene in a patient with syndromic neurodevelopmental defects |
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| Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong |
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| Corrigendum to “Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type <scp>III</scp>. Am J Med Genet Part A. 2020;<scp>182A</scp>:1190–1,200” |
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Asian Indian |
| Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry |
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✓ |
Southern India ancestry / Southern India ethnicity |
| First patient with mosaic <scp><i>NOTCH3</i></scp> gene pathogenic variant. Unrevealed mosaicisms and importance of their detection |
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| Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a <scp>Canadian</scp> population |
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| Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis |
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| Delineation of the clinical and radiological features of <scp>Stuve–Wiedemann</scp> syndrome childhood survivors, four new cases and review of the literature |
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| Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel <scp><i>LARS1</i></scp> mutations |
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| Returning negative results from <scp>large‐scale</scp> genomic screening: Experiences from the <scp>eMERGE III</scp> network |
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| Intraperitoneal bladder rupture in a young child with vascular <scp>Ehlers‐Danlos</scp> syndrome |
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| <scp><i>PIGO</i></scp> variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy |
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| Koolen‐de Vries syndrome: First report of two unrelated Indian patients |
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✓ |
Indian |
| Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (<scp>SOX5</scp>) |
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| <scp><i>CHRNB1</i></scp>‐associated congenital myasthenia syndrome: Expanding the clinical spectrum |
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| Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact |
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| A de novo <scp><i>ATXN2L</i></scp> variant in a child with developmental delay and macrocephaly |
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| Aplasia cutis congenita in a <scp><i>CDC42</i></scp><i>‐</i>related developmental phenotype |
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| Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the <scp>BRAF</scp> p.<scp>G464R</scp> pathogenic variant and review of the literature |
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| <scp>GLYT1</scp> encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms |
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| Expanding the phenotypic spectrum of<scp><i>RPL13</i>‐related</scp>skeletal dysplasia |
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| Missing the pathological expansion in Huntington disease: <i>de novo</i> c.<scp>51C</scp>>G variant on the expanded allele causing intrafamilial allele dropout |
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| Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey |
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| Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo |
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| Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in <scp><i>STRADA</i></scp> |
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| A <i>de novo</i> pathogenic <scp><i>BMP2</i></scp> variant‐related phenotype with the novel finding of bicuspid aortic valve |
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| Intracerebral hemorrhage in a neonate with an intragenic <scp><i>COL4A2</i></scp> duplication |
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| Adult Chinese twins with <scp>Kenny–Caffey</scp> syndrome type 2: A potential age‐dependent phenotype and review of literature |
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| Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia |
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✓ |
✓ |
Southeast Asian ethnicities; Southeast Asia region |
| A rare cause of syndromic short stature: <scp>3M</scp> syndrome in three families |
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| Could the <scp><i>MED13</i></scp> mutations manifest as a <scp>Kabuki</scp>‐like syndrome? |
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| Heterozygous recurrent <scp><i>HNF4A</i></scp> variant p.<scp>Arg85Trp</scp> causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi |
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| Beta‐propeller protein–associated neurodegeneration presenting Rett‐like features: A case report and literature review |
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| The <scp>point‐of‐care</scp> use of a facial phenotyping tool in the genetics clinic: An ethics <scp>tête‐a‐tête</scp> |
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| Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020) |
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| Empirically downgrading 10 constitutional missense variants of the <scp><i>NF1</i></scp> gene based on co‐existing truncating variants |
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| Gene‐specific facial dysmorphism in <scp>Axenfeld‐Rieger</scp> syndrome caused by <scp><i>FOXC1</i></scp> and <scp><i>PITX2</i></scp> variants |
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| Craniofacial phenotypes associated with <scp>Robinow</scp> syndrome |
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| Publication schedule for 2020 |
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| Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use |
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| The <scp>PORCN non‐Goltz</scp> spectrum (<scp>PONGOS</scp>): A new group of genetic disorders |
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| Table of Contents, Volume 182A, Number 12, December 2020 |
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| Cover Image, Volume 182A, Number 12, December 2020 |
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| NCCN Updates Guidelines for Hereditary Cancer Risks |
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| Reevaluating the Evolution of Lactase Persistence |
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| <scp>COFS</scp> type 3 in an Indian family with antenatally detected arthrogryposis |
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✓ |
✓ |
Indian family |
| In This Issue |
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| Clinical spectrum in multiple families with primary <scp>COQ<sub>10</sub></scp> deficiency |
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✓ |
✓ |
Asian ancestry; Iranian; originated from Iran |
| Defining dysmorphic facial features in congenital Zika syndrome |
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| Corrigendum to “Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype. Am J Med Genet Part A. 2018;176(3):551‐559” |
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| Association of <scp><i>HECW2</i></scp> variants with developmental and epileptic encephalopathy and knockdown of zebrafish <i>hecw2a</i> |
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| The spectrum of brain malformations and disruptions in twins |
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| A boy with <scp>Silver</scp>–<scp>Russell</scp> syndrome and Sotos syndrome |
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| The importance of genetic counseling and screening for people with pathogenic <scp><i>SMARCE1</i></scp> variants: A family study |
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| Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy |
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| Discovery of a novel <scp><i>CHD7</i> CHARGE</scp> syndrome variant by integrated omics analyses |
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✓ |
✓ |
Hispanic |
| Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients |
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✓ |
✓ |
Italian patients |
| Dr Jacqueline Noonan—<scp>Our hero</scp> |
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| Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding |
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| Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives |
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| Further delineation of <scp><i>MYO18B</i></scp>‐related autosomal recessive <scp>Klippel‐Feil</scp> syndrome with myopathy and facial dysmorphism |
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✓ |
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| Autosomal‐dominant <scp><i>WFS1</i>‐related</scp> disorder—Report of a novel <scp><i>WFS1</i></scp> variant and review of the phenotypic spectrum of autosomal recessive and dominant forms |
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| Age‐stratified prevalence of relevant comorbidities and etiologies for hospitalizations in Prader–Willi syndrome patients |
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| Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy |
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| Phenotypic features in <scp><i>MECP2</i></scp> duplication syndrome: Effects of age |
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| <scp>Poirier–Bienvenu</scp> neurodevelopmental syndrome: A report of a patient with a pathogenic variant in <scp><i>CSNK2B</i></scp> with abnormal linear growth |
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| Prenatal and postnatal diagnosis of <scp>Schuurs‐Hoeijmakers</scp> syndrome: Case series and review of the literature |
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| Genotype–phenotype correlation in seven motor neuron disease families with novel <scp><i>ALS2</i></scp> mutations |
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| Continuing contributions of older academics |
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| Genetic control of tumor development in malformation syndromes |
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| <scp>Witteveen–Kolk</scp> syndrome: The first patient from Turkey |
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| A novel homozygous frameshift mutation in the <i>DCC</i> gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development |
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| Three M syndrome 2 in two Indian patients |
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| Neonatal complications of Down syndrome and factors necessitating intensive care |
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| Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation |
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✓ |
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| Lymphedema distichiasis syndrome may be caused by <scp>FOXC2</scp> promoter‐enhancer dissociation and disruption of a topological associated domain |
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| Clinical aspects of a large group of adults with Angelman syndrome |
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| Non‐syndromic anophthalmia/microphthalmia can be caused by a <scp><i>PORCN</i></scp> variant inherited in X‐linked recessive manner |
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| Clericuzio‐type poikiloderma with neutropenia in a patient from India |
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| <i>ECHS1</i> disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder |
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✓ |
✓ |
Samoan descent |
| Inherited intragenic <scp><i>PBX1</i></scp> deletion: Expanding the phenotype |
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| A new case of osteogenesis imperfecta type VIII and retinal detachment |
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| Jacqueline A. Noonan |
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| Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations |
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✓ |
✓ |
African American; African descent; minority group |
| Atypical 7q11.23 deletions excluding <scp><i>ELN</i></scp> gene result in <scp>Williams–Beuren</scp> syndrome craniofacial features and neurocognitive profile |
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| Growth hormone deficiency in a child with <scp>branchio‐oto‐renal</scp> spectrum disorder: Clinical evidence of <scp><i>EYA1</i></scp> in pituitary development and a recommendation for pituitary funct |
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| Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome |
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| Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (<scp>SCA42ND</scp>): Case report, pharmacological trial, and literature review |
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| Variants in <scp><i>NAA15</i></scp> cause pediatric hypertrophic cardiomyopathy |
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| Craniocervical junction issues after infancy in achondroplasia |
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| <scp><i>MEIS2</i></scp> sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of <scp>low‐level</scp> mosaicism in an una |
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| Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia |
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| Expanding the phenotype of biallelic loss‐of‐function variants in the <scp><i>NSUN2</i></scp> gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel |
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| The role of novel <scp><i>COQ8B</i></scp> mutations in glomerulopathy and related kidney defects |
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✓ |
✓ |
Hispanic |
| Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the <scp><i>SPRED1</i></scp> phenotype? |
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| SOD1 Targeted as Treatment for Amyotrophic Lateral Sclerosis |
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| Table of Contents, Volume 182A, Number 11, November 2020 |
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| Bacterial Toxin Enables Mitochondrial Genome Editing |
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| Recommended measures for the efficient care of patients with genetic disorders during the <scp>COVID</scp>‐19 pandemic in low and middle income countries |
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| In This Issue |
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| Publication schedule for 2020 |
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| Cover Image, Volume 182A, Number 11, November 2020 |
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| Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature |
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| A new family with epiphyseal chondrodysplasia type Miura |
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| Epilepsy and movement disorders in <scp>CDG</scp>: Report on the oldest‐known <scp>MOGS‐CDG</scp> patient |
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| Novel <scp><i>GLI3</i> pathogenic</scp> variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome |
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| Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label” |
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| <scp>Rubinstein‐Taybi</scp> syndrome in Chinese population with four novel mutations |
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| Earlier detection of hypochondroplasia: A large single‐center <scp>UK</scp> case series and systematic review |
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| Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome |
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| Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19 |
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| Carrier frequency of <scp><i>SMN1</i></scp>‐related spinal muscular atrophy in north Indian population: The need for population based screening program |
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| Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome |
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| Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours |
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| Exome sequencing identifies novel missense and deletion variants in <scp><i>RTN4IP1</i></scp> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis |
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| Chimerism involving a <scp><i>RB1</i></scp> pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome |
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| Expanding the phenotype of <scp>Wiedemann‐Steiner</scp> syndrome: Craniovertebral junction anomalies |
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| Parenting stress in families of children with Prader–Willi syndrome |
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| <scp><i>EP300</i></scp>‐related <scp>Rubinstein–Taybi</scp> syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients |
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| Immune dysfunction in <scp>MGAT2‐CDG</scp>: A clinical report and review of the literature |
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| Haploinsufficiency of <scp><i>ATP6V0C</i></scp> possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder |
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| Parenting a child with Marfan syndrome: Distress and everyday problems |
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| The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities |
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| Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum |
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| Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families |
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| De novo variant in <i>AMOTL1</i> in infant with cleft lip and palate, imperforate anus and dysmorphic features |
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| Outcome of 45,X fetuses with cystic hygroma: A systematic review |
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| Overlapping phenotype comprising <scp>Kenny‐Caffey</scp> type 2 and <scp>Sanjad‐Sakati</scp> syndromes: The first case report |
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| Diversity, inclusion and equity in medical genetics: The time is now |
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| Maximizing the value of human biospecimens: Lessons from coronavirus and the Seattle flu study |
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| Clinical variability of <scp><i>TUBB</i></scp>‐associated disorders: Diagnosis through reanalysis |
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| Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting <scp><i>JMJD1C</i></scp> variant that led to 21 bp deletion of the transcript |
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| Prevalence rates study of selected isolated<scp>non‐Mendelian</scp>congenital anomalies in the Hutterite population of Alberta, 1980–2016 |
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Hutterite population / Hutterite Brethren |
| Recessive <scp><i>MYH3</i></scp> variants cause “Contractures, pterygia, and variable skeletal fusions syndrome <scp>1B</scp>” mimicking Escobar variant multiple pterygium syndrome |
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| The first reported case of <scp>Loeys‐Dietz</scp> syndrome in a patient with biallelic <scp><i>SMAD3</i></scp> variants |
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| Novel <scp><i>NEXMIF</i></scp> gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability |
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| Exome sequencing identifies a <i>SREBF1</i> recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability |
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| Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency |
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| Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9 |
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| Phenotypic diversity and genetic complexity of <scp><i>PAX3</i></scp>‐related Waardenburg syndrome |
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| Diagnosis of Chediak Higashi disease in a 67‐year old woman |
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| Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1 |
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| <scp>Rubinstein–Taybi</scp> syndrome in diverse populations |
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individuals of European descent; African group |
| <i><scp>PPP1R21</scp>‐</i>related syndromic intellectual disability: Report of an adult patient and review |
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| Untapped opportunities for rare disease gene discovery in India |
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| Prophylactic anticoagulation of individuals with Proteus syndrome and <scp>COVID</scp>‐19 |
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| Massive parallel sequencing of dried umbilical cord remnants |
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| Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating <scp><i>KIDINS220</i></scp> variant |
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| A novel splice variant expands the <scp><i>LAMC3</i></scp>‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy |
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| The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel <scp><i>FBXO11</i></scp> variant |
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| Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis |
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| Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in <scp><i>BRF1</i></scp> |
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| Corrigendum to “Preaxial polydactyly in an individual with <scp>Wiedemann‐Steiner</scp> syndrome caused by a novel nonsense mutation in <scp>KMT2A</scp>. Am J Med Genet Part A. 2017;<scp>173A</scp>:28 |
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| Caput membranaceum: A novel clinical presentation of <scp><i>ZIC1</i></scp> related skull malformation and craniosynostosis |
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| Table of Contents, Volume 182A, Number 10, October 2020 |
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| Sleep disordered breathing in children with Down syndrome in the Republic of Ireland |
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| Canada's Supreme Court Upholds Law to Prevent Genetic Discrimination |
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| Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving <scp>CNTNAP5</scp> |
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| Publication schedule for 2020 |
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| Extremity anomalies associated with Robinow syndrome |
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| Does <scp><i>SNAI2</i></scp> mutation cause human piebaldism and Waardenburg syndrome? |
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| Risk Variant for Severe COVID‐19 Inherited from Neanderthals |
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| In This Issue |
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| Cover Image, Volume 182A, Number 10, October 2020 |
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| Further delineation of <scp>HIDEA</scp> syndrome |
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| Use of complementary therapies for chronic pain management in patients with reported <scp>Ehlers‐Danlos</scp> syndrome or hypermobility spectrum disorders |
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| Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes |
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| Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum |
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| 46,<scp>XY DSD</scp> and limb abnormalities in a female with a de novo <scp><i>LHX9</i></scp> missense mutation |
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| Corrigendum |
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| Candidate genes of <scp>oculo‐auriculo‐vertebral</scp> spectrum in 22q region: A systematic review |
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| Sleep disordered breathing and daytime hypoventilation in a male with <scp>MECP2</scp> mutation |
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| Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands |
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| Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome |
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| Congenital diaphragmatic hernia as a prominent feature of a <scp><i>SPECC1L</i>‐related</scp> syndrome |
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| Clinical characteristics of individuals with Down syndrome deceased with CoVID‐19 in Italy—A case series |
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| Headaches in hypermobility syndromes: A pain in the neck? |
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| Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome |
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| The expanding spectrum of <scp><i>NFIB</i></scp>‐associated phenotypes in a diverse patient population—A report of two new patients |
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Latino |
| Ophthalmological abnormalities in Down syndrome among Brazilian patients |
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| Congenital <scp>microgastria‐limb</scp> reduction association: A case report and review of the literature |
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| Pathogenic variant in <scp><i>NFIX</i></scp> gene affecting three sisters due to paternal mosaicism |
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| Lethal renal anomalies in a fetus with 21q22.11‐q22.12 deletion |
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| Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency |
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| <scp>COVID</scp>‐19 and lymphangioleiomyomatosis: Experience at a reference center and the potential impact of the use of <scp>mTOR</scp> inhibitors |
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| Evidence of pathogenicity for the leaky splice variant c.<scp>1066‐6T</scp>>G in <scp><i>ATM</i></scp> |
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| <scp>Wolf–Hirschhorn</scp> syndrome: A case series from India |
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| Obstructive sleep apnea in adults with Down syndrome |
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| Tremor is a major feature of 9p13 deletion syndrome |
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| Alazami syndrome: Phenotypic expansion and clinical resemblance to <scp>Smith–Lemli–Opitz</scp> syndrome |
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| Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form |
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| Protein elongation variant of <scp><i>PUF60</i></scp>: Milder phenotypic end of the Verheij syndrome |
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| Growth charts for individuals with <scp>Coffin‐Siris</scp> syndrome |
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| Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(<scp>P139L)</scp> of the <scp><i>CAMK2B</i></ |
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| 7q31.2q31.31 deletion downstream of <scp><i>FOXP2</i></scp> segregating in a family with speech and language disorder |
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| Sudden infant death with dysgenesis of the testes syndrome in a <scp>non‐Amish</scp> infant: A case report |
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| Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele |
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| <scp>EVEN‐PLUS</scp> syndrome: A case report with novel variants in <scp><i>HSPA9</i></scp> and evidence of <scp><i>HSPA9</i></scp> gene dysfunction |
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| Bosley–Salih–Alorainy syndrome in patients from India |
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| Natural history of achondroplasia: A retrospective review of longitudinal clinical data |
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| Genotype–phenotype correlation of 33 patients with maple syrup urine disease |
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| Pathogenic variants in <scp><i>KPTN</i></scp>, a rare cause of macrocephaly and intellectual disability |
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| Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3 |
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✓ |
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Syrian |
| Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway |
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| Trichothiodystrophy type 4 in an Indian family |
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Indian ethnicity |
| Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? |
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| Missense variants in the spectrin repeat domain of <scp><i>DSP</i></scp> are associated with arrhythmogenic cardiomyopathy: A family report and systematic review |
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| Patient with an autosomal‐recessive <scp><i>MBTPS1</i></scp>‐linked phenotype and clinical features of <scp>Silver–Russell</scp> syndrome |
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| A novel homozygous variant in <scp><i>REN</i></scp> in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis |
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| The latest <scp>FADS</scp>: Functional analysis of <scp><i>GLDN</i></scp> patient variants and classification of <scp><i>GLDN</i></scp>‐associated <scp>AMC</scp> as a type of viable fetal akinesia def |
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| Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis |
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| Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by <scp>UPD</scp> |
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| Update of the genotype and phenotype of<scp><i>KMT2D</i></scp>and<scp><i>KDM6A</i></scp>by genetic screening of 100 patients with clinically suspected Kabuki syndrome |
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| Additional individuals with <scp><i>CHD7</i></scp> variants in Chinese and other southeast Asian patients |
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✓ |
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Chinese; southeast Asian |
| Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature |
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| Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and <scp>COVID</scp>‐19: The experience of a <scp>TSC</scp> clinic in Italy |
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| Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type <scp>II</scp> collagenopathy |
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| Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in <scp><i>WDR35</i></scp> |
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✓ |
✓ |
Polish family |
| Limb overgrowth associated with a mosaic <scp><i>TSC2</i></scp> second‐hit in tuberous sclerosis complex |
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| A founder <scp>RAB27A</scp> variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families |
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| Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2 |
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| The deregulation of <scp><i>NOTCH</i></scp> pathway, inflammatory cytokines, and keratinization genes in two <scp>Dowling–Degos</scp> disease patients with hidradenitis suppurativa |
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| Adult phenotype of the homozygous missense mutation c.<scp>655G</scp>>A, p.<scp>Gly219Arg</scp> in <scp><i>SLC13A5</i></scp>: A case report |
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| Chromoanasynthesis as a cause of Jacobsen syndrome |
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| Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients |
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| Impact of Costello syndrome on growth patterns |
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| Mirror syndromes regarding <scp>AKT3</scp> mutations: Loss of function variant leading to microcephaly |
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| Screening of a large <scp>Rubinstein–Taybi</scp> cohort identified many novel variants and emphasizes the importance of the <scp><i>CREBBP</i></scp> histone <scp>acetyltransferase</scp> domain |
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| Sleep‐disordered breathing and nocturnal hypoventilation in children with the <scp><i>MECP2</i></scp> duplication syndrome: A case series and review of the literature |
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| Vestibular and audiological findings in the Alport syndrome |
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| A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines |
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| Table of Contents, Volume 182A, Number 9, September 2020 |
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| Neurological phenotype of <scp>Potocki–Lupski</scp> syndrome |
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| <scp>3D</scp> facial morphometry in Italian patients affected by Aicardi syndrome |
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✓ |
✓ |
Italian females |
| Cover Image, Volume 182A, Number 9, September 2020 |
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| In This Issue |
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| Publication schedule for 2020 |
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| Global Initiative Seeks to Crack the COVID‐19 Genetic Code |
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| Corrigendum |
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| Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant <scp>NIPT</scp> results |
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| The Gnomad Consortium Releases First Studies of Human Genetic Variation |
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| Brachydactyly type <scp>A3</scp> is caused by a novel 13 bp <scp><i>HOXD13</i></scp> frameshift deletion in a Chinese family |
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✓ |
✓ |
Chinese |
| Novel progressive <scp>acrodysostosis‐like</scp> skeletal dysplasia, cerebellar atrophy, and ichthyosis |
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| A case of rare isolated agnathia and literature review |
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| An additional case of <scp>Néstor‐Guillermo</scp> progeria syndrome diagnosed in early childhood |
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✓ |
✓ |
Spanish |
| Expanding the phenotypic spectrum of <i>IFT81</i>: Associated ciliopathy syndrome |
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| Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in <i>ESCO2</i> |
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| Behavior and cognitive functioning in <scp>Witteveen–Kolk</scp> syndrome |
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| Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients |
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| Whole genome sequence analysis identifies a <scp>PAX2</scp> mutation to establish a correct diagnosis for a syndromic form of hyperuricemia |
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| Prenatal pleural effusions and chylothorax: An unusual presentation for <scp>CM‐AVM</scp> syndrome due to <scp><i>RASA1</i></scp> |
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| Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome |
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| Leukoencephalopathy in <scp>Al‐Raqad</scp> syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in <scp><i>DCPS</i></scp> |
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| Immediate and 6‐week after effects of a rehabilitation program for <scp>Ehlers–Danlos</scp> syndrome hypermobile type patients: A retrospective study |
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| Microcephalic osteodysplastic primordial dwarfism type <scp>II</scp> and pachygyria: Morphometric analysis in a 2‐year‐old girl |
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| A patient with novel <i>MBOAT7</i> variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile |
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| Speech and language development in children with 49,<scp>XXXXY</scp>syndrome |
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| Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp> |
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| Farber disease in a patient from China |
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| A study on facial features of children with Williams syndrome in China based on three‐dimensional anthropometric measurement technology |
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| The recurrent <scp>TUBB3 Gly98Ser</scp> substitution is the first described to inconsistently result in <scp>CFEOM3</scp> |
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| Publication schedule for 2020 |
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| Announcing a new manuscript category for the <scp><i>American Journal of Medical Genetics</i></scp> Part A: Dispatches from Biotech |
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| New Subtype Proposed for Myelodysplastic Syndrome |
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| Table of Contents, Volume 182A, Number 8, August 2020 |
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| New Syndrome Associated with Germline Variants in <i>TRAF7</i> |
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| Knobloch syndrome in a patient from Chile |
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| In This Issue |
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| Cover Image, Volume 182A, Number 8, August 2020 |
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| 50 years of Robinow syndrome |
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| Schimke <scp>XLID</scp> syndrome results from a deletion in <scp><i>BCAP31</i></scp> |
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| Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for <scp><i>GATA1</i></scp> pathogenic variants |
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| The variability of <scp><i>SMARCA4</i></scp>‐related <scp>Coffin–Siris</scp> syndrome: Do nonsense candidate variants add to milder phenotypes? |
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| Indian child with novel variant in <scp>OFD1</scp> gene |
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✓ |
✓ |
Indian |
| Ocular measurements in fetal alcohol spectrum disorders |
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| Sotos syndrome in two children from India |
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| Redeployment: Tales of a pediatric geneticist in a <scp>COVID</scp>‐19 combat zone |
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| Large duplication in <scp><i>LMBR1</i></scp> gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome |
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✓ |
Chinese |
| Neurocognitive development and capabilities in boys with 49,<scp>XXXXY</scp> syndrome |
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| Growth in individuals with <scp>Saul–Wilson</scp> syndrome |
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| A novel intronic variant in <scp><i>UBE3A</i></scp> identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome |
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| Heterozygous missense variant in <scp><i>EIF6</i></scp> gene: A novel form of <scp>Shwachman–Diamond</scp> syndrome? |
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| Short stature and growth hormone deficiency in a subset of patients with <scp>Potocki–Lupski</scp> syndrome: Expanding the phenotype of <scp>PTLS</scp> |
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| 49,<scp>XXXXY</scp>syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder |
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| <scp><i>DYNC1H1</i></scp>‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants |
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| Introduction: Comprehensive investigation into an international cohort of boys with 49,<scp>XXXXY</scp> |
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| 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including <scp><i>SYT1</i></scp> and <scp><i>PPP1R12A</i></scp> |
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| Paternal somatogonadal <scp>COL2A1</scp> mosaicism causing recurrence of severe type 2 collagenopathy |
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| Bone fractures in children with trisomy 13 and 18 |
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| <scp>LACHT</scp> syndrome (<scp>Mardini–Nyhan</scp> association) with tracheal stenosis in a Thai newborn |
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✓ |
Thai newborn |
| Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum |
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✓ |
✓ |
Italian |
| Mutation in <scp><i>CEP135</i></scp> causing primary microcephaly and subcortical heterotopia |
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| An Indian child with Coats plus syndrome due to mutations in <scp><i>STN1</i></scp> |
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Indian |
| Complex movement disorder in a patient with heterozygous <scp>YY1</scp> mutation (Gabriele‐de Vries syndrome) |
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| Beneficial effect of gabapentin in two children with Noonan syndrome and early‐onset neuropathic pain |
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| Spinal muscular atrophy and Farber disease due to <scp><i>ASAH1</i></scp> variants: A case report |
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| Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal |
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| A homozygous truncating <scp><i>NALCN</i></scp> variant in two <scp>Afro‐Caribbean</scp> siblings with hypotonia and dolichocephaly |
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✓ |
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Afro‐Caribbean |
| Evidence of intrauterine growth restriction and growth hormone deficiency in 49,<scp>XXXXY</scp> syndrome |
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| A homozygous variant in growth and differentiation factor 2 <i>(</i><scp><i>GDF2</i></scp><i>)</i> may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis |
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| Associated anomalies in cases with congenital clubfoot |
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| Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals |
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| Prenatal presentation and diagnosis of <scp>Baraitser‐Winter</scp> syndrome using exome sequencing |
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| The dark side of <scp>COVID</scp>‐19: The need of integrated medicine for children with special care needs |
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| <scp><i>TUBB3</i> E410K</scp> syndrome: Case report and review of the clinical spectrum of <scp><i>TUBB3</i></scp> mutations |
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| Diffuse infantile hepatic hemangiomas in a patient with <scp>Beckwith–Wiedemann</scp> syndrome: A new association? |
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| Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia |
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| Confirming <scp><i>TBC1D32</i></scp>‐related ciliopathy in humans |
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| Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing |
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| Table of Contents, Volume 182A, Number 7, July 2020 |
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| Publication schedule for 2020 |
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| Lipoplexes Could be Alternative to Viral Vectors in Gene Therapy |
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| Absence of Functional ACTL6B Gene is Potential Cause of Recessive Autism |
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| In This Issue |
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| Cover Image, Volume 182A, Number 7, July 2020 |
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| Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co‐occurrence from Thailand |
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| Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning |
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| Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis |
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| Going forward in a new world |
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| Maternal <scp>SLE</scp> and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo <scp><i>RAF1</i></scp> and <scp><i>SIX2</i></scp> variants |
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| <scp>Baraitser–Winter</scp> cerebrofrontofacial syndrome: Report of two adult siblings |
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| Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome |
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| Long‐term follow‐up of an individual with <scp><i>ITPR1</i></scp>‐related disorder |
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| Activating variants in <scp><i>PDGFRB</i></scp> result in a spectrum of disorders responsive to imatinib monotherapy |
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| Characteristic dental pattern with hypodontia and short roots in Fraser syndrome |
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| Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study |
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| Here and now |
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| A case report of Noonan syndrome‐like disorder with loose anagen hair 2 treated with recombinant human growth hormone |
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| Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis |
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| Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome |
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| Ectopia lentis in <scp>Loeys‐Dietz</scp> syndrome type 4 |
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| Expanding the phenotype of biallelic <scp><i>RNPC3</i></scp> variants associated with growth hormone deficiency |
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| In This Issue |
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| Publication schedule for 2020 |
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| Neurodevelopmental Disorder Defined in TET3‐Deficient Individuals |
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| Cover Image, Volume 182A, Number 6, June 2020 |
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| Table of Contents, Volume 182A, Number 6, June 2020 |
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| Genetic Variants May Play Role in Opioid Dependence |
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| Familial dilated cardiomyopathy associated with pathogenic <scp><i>TBX5</i></scp> variants: Expanding the cardiac phenotype associated with <scp>Holt–Oram</scp> syndrome |
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| Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous <scp><i>GJA1</i></scp> variant |
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| Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome |
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| The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome |
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| Recessive <scp><i>ACO2</i></scp> variants as a cause of isolated ophthalmologic phenotypes |
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| A pathogenic variant in the <scp><i>SETBP1</i></scp> hotspot results in a forme‐fruste <scp>Schinzel–Giedion</scp> syndrome |
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| Sacral protuberance with cleft lip and palate: Prenatal presentation of <scp>3MC</scp> syndrome |
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| Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates? |
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| Bi‐allelic loss‐of‐function novel variants in <scp><i>LTBP3</i></scp>‐related skeletal dysplasia: Report of first patient from India |
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| Genotype and phenotype correlation in a family with a 2q37 deletion downstream of<scp><i>HDAC4</i></scp> |
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| An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology |
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| Love in the time of<scp>COVID</scp>‐19 |
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| <scp>SMG9</scp>‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder |
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| Novel de novo <scp><i>TRIP12</i></scp> mutation reveals variable phenotypic presentation while emphasizing core features of <scp><i>TRIP12</i></scp> variations |
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| Shortfall of exome analysis for diagnosis of <scp>Shwachman‐Diamond</scp> syndrome: Mismapping due to the pseudogene <scp><i>SBDSP1</i></scp> |
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| Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in <scp><i>MBTPS1</i></scp> |
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| Phenotype and growth in Sotos syndrome patient from <scp>DR</scp> Congo (Central Africa) |
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✓ |
✓ |
African; African individuals; African patient; Central Africa |
| <scp><i>KIAA1217</i></scp>: A novel candidate gene associated with isolated and syndromic vertebral malformations |
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| Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes |
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| A novel patient with <scp>White–Sutton</scp> syndrome refines the mutational and clinical repertoire of the <i>POGZ‐</i>related phenotype and suggests further observations |
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| Aortic arch geometry predicts outcome in patients with <scp>Loeys–Dietz</scp> syndrome independent of the causative gene |
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| The Society for Craniofacial Genetics and Developmental Biology 42nd Annual Meeting |
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| Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part <scp>II</scp> |
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| Eye tracking as an objective measure of hyperphagia in children with <scp>Prader‐Willi</scp> syndrome |
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| Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis‐proneness symptoms in youth with chromosome 22q11.2 deletion syndrome |
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| Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect |
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| Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review |
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| <scp>4H</scp> leukodystrophy caused by a homozygous <i>POLR3B</i> mutation: Further delineation of the phenotype |
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| Further delineation of <scp>Basel‐Vanagaite‐Smirin‐Yosef</scp> syndrome: Report of three patients |
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| Medical genetics education in the midst of the <scp>COVID</scp>‐19 pandemic: Shared resources |
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| Novel de novo 2q14.3 deletion disrupting <scp><i>CNTNAP5</i></scp> in a girl with intellectual impairment, thin corpus callosum, and microcephaly |
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| Cover Image, Volume 182A, Number 5, May 2020 |
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| High Polygenic Risk Scores Associated with Autism Spectrum Disorder |
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| Insurers Reluctant to Cover Prenatal Exome Sequencing |
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| Table of Contents, Volume 182A, Number 5, May 2020 |
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| Publication schedule for 2020 |
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| In This Issue |
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| Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review |
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| <scp>CDH1</scp>‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk |
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| Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety |
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| Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case |
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✓ |
✓ |
Togolese; African; Western Africa; sub‑Saharan African black race; African black race |
| Severe <scp>SOPH</scp> syndrome due to a novel <i>NBAS</i> mutation in a <scp>27‐year‐old</scp> woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
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| Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects |
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| Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype |
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| Aortic dilation in Sotos syndrome: An underestimated feature? |
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| How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails |
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| Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations |
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| Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation |
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| Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation |
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| Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome |
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| Expanding the clinical spectrum of mitochondrial <scp>3‐hydroxy‐3‐methylglutaryl‐CoA</scp> synthase deficiency with Turkish cases harboring novel <scp><i>HMGCS2</i></scp> gene mutations and literature |
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✓ |
✓ |
Turkish |
| Multiple synostoses syndrome: Clinical report and retrospective analysis |
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Chinese; different races |
| Hip displacement in <scp>Wolf–Hirschhorn</scp> syndrome: Report on three cases and review of associated musculoskeletal pathologies |
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| Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency |
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| Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study |
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| Recessive congenital myasthenic syndrome caused by a homozygous mutation in <scp><i>SYT2</i></scp> altering a highly conserved C‐terminal amino acid sequence |
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| Musculoskeletal abnormalities in a large international cohort of boys with 49,<scp>XXXXY</scp> |
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| Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III |
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Asian Indian; Asian origin; Asian subcontinent |
| KBG syndrome in two patients from Egypt |
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| A second case of Okamoto syndrome caused by <scp><i>HNRNPK</i></scp> mutation |
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| Phenotypic variability and mutation hotspot in <scp><i>COX15</i></scp>‐related Leigh syndrome |
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✓ |
different ethnic origins |
| <scp>Wolff–Parkinson–White</scp> syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation |
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| <scp><i>KIT</i></scp>‐related piebaldism in a Chinese girl |
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✓ |
Chinese |
| Neurodevelopmental outcome of prenatally diagnosed boys with 47,<scp>XXY</scp> (Klinefelter syndrome) and the potential influence of early hormonal therapy |
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| Long‐term observation of a Japanese mucolipidosis <scp>IV</scp> patient with a novel homozygous p.F313del variant of <scp><i>MCOLN1</i></scp> |
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✓ |
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Japanese |
| Chimerism in health and potential implications on behavior: A systematic review |
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| Human <scp><i>RAD50</i></scp> deficiency: Confirmation of a distinctive phenotype |
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| Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G <i>RIPPLY2</i> variant: A discrete entity |
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| Natural history of the oldest known females with mucopolysaccharidosis type <scp>IVA</scp> (Morquio A syndrome) |
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| <i>NKX2‐6</i> related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus |
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| <i>MAST1</i> variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia |
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✓ |
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Spanish origin |
| <i>PIGW</i>‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature |
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| A case of <scp>G1013R <i>FBN1</i></scp> mutation: A potential <scp>genotype–phenotype</scp> correlation in severe Marfan syndrome |
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| A case of Singleton–Merten syndrome without cardiac involvement harboring a novel <scp>IFIH1</scp> variant |
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| Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with <scp>GATA6</scp> mutation |
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| Mowat–Wilson syndrome in a Chinese population: A case series |
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Chinese; ethnicity-related |
| Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report |
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| Burn‐McKeown syndrome with biallelic promoter type 2 deletion in <scp><i>TXNL4A</i></scp> in two siblings |
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| Limitations of exome sequencing in detecting rare and undiagnosed diseases |
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| GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment |
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| Phenotypic expansion of <i>OTUD6B</i>‐related syndrome |
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| The clinical overlap between cardiac‐urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac‐urogenital syndrome |
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| An <i>ACVRL1</i> gene mutation presenting as vein of Galen malformation at prenatal diagnosis |
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| Brain morphological analysis in <scp><i>PTEN</i></scp> hamartoma tumor syndrome |
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| Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders |
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| Martsolf syndrome with novel mutation in the <i>TBC1D20</i> gene in a family from Iran |
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| A founder truncating variant in <scp><i>GDF1</i></scp> causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds |
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✓ |
Arab‐Muslim descent |
| Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature |
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| PPP1R12A Pathogenic Variants Associated with Human Congenital Malformations Syndrome |
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| In This Issue |
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| Cover Image, Volume 182A, Number 4, April 2020 |
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| New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry |
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| MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay |
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| Table of Contents, Volume 182A, Number 4, April 2020 |
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| Publication schedule for 2020 |
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| 40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting |
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| Haploinsufficiency of the basic helix–loop–helix transcription factor<i>HAND2</i>causes congenital heart defects |
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| Views of adults with 22q11 deletion syndrome on reproductive choices |
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| Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome |
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| The novel R211Q <scp><i>POP1</i></scp> homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported <scp><i>POP1</i></scp>‐associated anauxetic dysplasia |
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| A novel frameshift mutation in <i>SOX10</i> causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease |
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| Paternal mosaicism for a novel <scp><i>PBX1</i></scp> mutation associated with recurrent perinatal death: Phenotypic expansion of the <scp><i>PBX1</i></scp>‐related syndrome |
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| Expansion of the phenotype of lateral meningocele syndrome |
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| Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India |
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| Trevor's disease of the distal radioulnar joint in two children with achondroplasia |
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| Congenital limb reduction defects in 1.6 million births in Argentina |
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| KBG syndrome: Common and uncommon clinical features based on 31 new patients |
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| Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1 |
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| Whole‐genome sequencing reveals complex chromosome rearrangement disrupting <scp><i>NIPBL</i></scp> in infant with Cornelia de Lange syndrome |
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| Three‐dimensional facial morphology in Cantú syndrome |
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| Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation |
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✓ |
✓ |
Hispanic |
| Expanding the spectrum of <i>CEP55</i>‐associated disease to viable phenotypes |
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| Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports |
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| Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome |
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| Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome |
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| Further delineation of <i>METTL23</i>‐associated intellectual disability |
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| Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness |
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| Phenotypic expansion of <i>KMT2D‐</i>related disorder: Beyond Kabuki syndrome |
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| Nine newly identified individuals refine the phenotype associated with <i>MYT1L</i> mutations |
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| Cantu syndrome: A longitudinal review of vascular findings in three individuals |
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| A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature |
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| Publication schedule for 2020 |
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| <scp><i>MECP2</i></scp> duplication syndrome in a patient from Cameroon |
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✓ |
✓ |
individuals of African descent; from Cameroon |
| Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature |
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| New Definition of Unexplained Regression in Down Syndrome Proposed |
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| In This Issue |
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| Table of Contents, Volume 182A, Number 3, March 2020 |
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| Phenotype‐Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates |
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| Cover Image, Volume 182A, Number 3, March 2020 |
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| Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? |
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| <i>SCN8A</i>heterozygous variants are associated with anoxic‐epileptic seizures |
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| Grandparental genotyping enhances exome variant interpretation |
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| A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing |
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| Expanding the genotypic spectrum of Jalili syndrome: Novel <i>CNNM4</i> variants and uniparental isodisomy in a north American patient cohort |
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✓ |
✓ |
Guatemalan ancestry |
| Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel <i>EFNB1</i> mutation |
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| Homozygous deletion of exons 2–7 within <scp><i>TGFB3</i></scp> gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features |
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| De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype |
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| Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome |
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| <scp><i>KPTN</i></scp> gene homozygous variant‐related syndrome in the northeast of Brazil: A case report |
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✓ |
✓ |
Amish; Estonian; Brazilian |
| Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the <scp><i>FRAS1</i></scp> gene |
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✓ |
✓ |
Polish origin; Polish ancestry |
| Genetic evaluation including exome sequencing of two patients with Gomez‐Lopez‐Hernandez syndrome: Case reports and review of the literature |
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| Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe |
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✓ |
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compared to Europe; 1:20,000 in Europe; common European p.Asp141His allele; compared to 1:252 in gno |
| The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review |
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| Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia? |
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| Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension |
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| Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy |
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| Novel<i>KIAA1033</i>/<i>WASHC4</i>mutations in three patients with syndromic intellectual disability and a review of the literature |
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| Tatton‐Brown‐Rahman syndrome: Six individuals with novel features |
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| Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm |
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| A Turkish patient with novel <scp><i>AHCY</i></scp> variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiency |
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| Table of Contents, Volume 182A, Number 2, February 2020 |
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| Publication schedule for 2020 |
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| Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a “ |
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| In This Issue |
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| Computational Approach can Increase the Power of Human Genetic Analysis |
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| Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging |
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| Missense variants in the Arg206 residue of <i>HNRNPH2</i>: Further evidence of causality and expansion of the phenotype |
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| Cover Image, Volume 182A, Number 2, February 2020 |
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| Cardiofaciocutaneous syndrome with <i>KRAS</i> gene mutation presenting as chylopericardium |
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| Estimated birth prevalence of mucopolysaccharidoses in Brazil |
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| Expanding the genotype–phenotype correlation of<i>de novo</i>heterozygous missense variants in<i>YWHAG</i>as a cause of developmental and epileptic encephalopathy |
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| First case of compound heterozygous <scp><i>BHLHA9</i></scp> variants in mesoaxial synostotic syndactyly with phalangeal reduction |
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| Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies |
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| Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing |
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| Advancing <scp>RAS/RASopathy</scp> therapies: An NCI‐sponsored intramural and extramural collaboration for the study of <scp>RASopathies</scp> |
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| A Syrian patient with Steel syndrome due to compound heterozygous <i>COL27A1</i> mutations with colobomata of the eye |
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✓ |
✓ |
Syrian; Puerto Rico / Puerto Rican |
| Pathogenic variants in the<i>TRIP11</i>gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A |
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| Three new patients with Steel syndrome and a Puerto Rican specific <i>COL27A1</i> mutation |
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✓ |
✓ |
Puerto Rican ancestry |
| White vitreous opacities in five patients with Gaucher disease type 3 |
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| Evidence of <i>GMPPA</i> founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome |
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✓ |
✓ |
indigenous Maya-Mam heritage; Guatemalan Maya-Mam ancestry |