| Siblings with profound connective tissue disease: First report of biallelic <scp><i>TGFBR1</i></scp>‐related <scp>Loeys‐Dietz</scp> syndrome |
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| Amniotic band syndrome and limb body wall complex in Europe 1980–2019 |
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| A novel deleterious <scp><i>ETFA</i></scp> promoter variant causative of multiple <scp>acyl‐CoA</scp> dehydrogenase deficiency |
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| <scp><i>BHLHA9</i></scp> homozygous duplication in a consanguineous family: A challenge for genetic counseling |
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✓ |
✓ |
Lebanese |
| <scp><i>ZDHHC15</i></scp> as a candidate gene for autism spectrum disorder |
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| A novel <i>CHD3</i> variant in a patient with central precocious puberty: Expanded phenotype of <scp>Snijders Blok‐Campeau</scp> syndrome? |
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| Correction to “<scp>TTC5</scp> syndrome: Clinical and molecular spectrum of a severe and recognizable condition” |
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| <scp><i>TRAPPC9</i></scp>‐related neurodevelopmental disorder: Report of a homozygous deletion in <scp><i>TRAPPC9</i></scp> due to paternal uniparental isodisomy |
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✓ |
✓ |
Hispanic |
| A typical variant in <i>TCF4</i> exon 18 is not associated with <scp>P</scp>itt–<scp>H</scp>opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder |
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| Detection of mosaic variants using genome sequencing in a large pediatric cohort |
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| Complex congenital cardiovascular anomaly in a patient with <scp><i>AGO1</i></scp>‐associated disorder |
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| A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation |
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| Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 |
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| Acute myeloid leukemia associated with <scp>CHARGE</scp> syndrome |
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| Correction to “Expanding phenotype of <i>FAM111B</i>‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym” |
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| Patterns of co‐occurring birth defects in children with anotia and microtia |
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| Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene |
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| <scp>GM1</scp>‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat |
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| A de novo hexokinase 1 (<scp><i>HK1</i></scp>) variant presenting as <scp>Boucher–Neuhäuser</scp> syndrome |
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| Correction to “Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic <scp><i>POLR2A</i></scp> variant” |
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| Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome |
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| Autosomal dominant inheritance with sex‐limited manifestation: An unusual mode of transmission in humans and animals |
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| Expansion of the clinical and molecular spectrum of <i>WWOX</i>‐related epileptic encephalopathy |
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| First case of desmosterolosis diagnosed by prenatal whole exome sequencing |
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| Rare diseases of ectoderm: Translating discovery to therapy |
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| Retinal detachment in Loeys–Dietz syndrome |
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| <scp>T2</scp> olivary nuclei hyperintensities: A characteristic neuroimaging finding in <scp><i>FIG4</i></scp>‐related leukoencephalopathy |
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| A diagnosis of <scp>Birt–Hogg–Dubé</scp> syndrome in individuals with <scp>Smith–Magenis</scp> syndrome: Recommendation for cancer screening |
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| A novel variant of <i>ARPC4</i>‐related neurodevelopmental disorder |
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| <scp>SHORT</scp> syndrome with microcephaly and developmental delay |
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| New Autism Genes Identified in Largest Study to Date |
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| Incidental Variants Associated with Pathogenesis in Dilated Cardiomyopathy |
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| Inversions on human chromosomes |
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| Fetal akinesia deformation sequence syndrome associated with recessive <scp><i>TTN</i></scp> variants |
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| Table of Contents, Volume 191A, Number 1 January 2023 |
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| Publication schedule for 2023 |
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| In This Issue |
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| Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic <scp><i>COASY</i></scp> variants |
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| Fatal gastrointestinal complications in <scp>Pitt‐Hopkins</scp> syndrome |
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| Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race |
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✓ |
Black, African American, of African descent, or of mixed race |
| Perspectives on the future of dysmorphology |
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| Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence |
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| Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics |
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| Anesthesia outcomes in lysosomal disorders: <scp>CLN3</scp> and <scp>GM1</scp> gangliosidosis |
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| 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression |
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| Expansion of the genotypic and phenotypic spectrum of <scp><i>CTCF</i></scp>‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review |
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| A novel homozygous nonsense <scp><i>NDNF</i></scp> variant in Kallmann syndrome |
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✓ |
✓ |
Kurdish |
| Benign goiters requiring thyroidectomy as the signal for <scp>PTEN</scp> hamartoma tumor syndrome diagnosis |
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| Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis |
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| Further expansion and confirmation of phenotype in rare loss of <scp><i>YWHAE</i></scp> gene distinct from <scp>Miller–Dieker</scp> syndrome |
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| Personal social networks of people with Down syndrome |
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| Validation of a predictive model for obstructive sleep apnea in people with Down syndrome |
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| Genetic and phenotypic spectrum in the <scp><i>NONO</i></scp>‐associated syndromic disorder |
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| Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases |
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| <scp><i>ZDHHC9</i></scp> X‐linked intellectual disability: Clinical and molecular characterization |
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| <scp><i>SOX3</i></scp> duplication in a boy with 46,<scp>XX</scp> ovotesticular disorder of sex development and his 46,<scp>XX</scp> sister with atypical genitalia: Probable germline mosaicism |
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| Variants in <i>AQP11</i> may result in autosomal recessive bilateral cystic renal dysgenesis |
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| Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy |
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| Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics |
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| <i>PORCN</i>‐related microphthalmia with limb anomalies: Case report and literature review |
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| Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey |
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| Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships |
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| Lessons in genetics: Common diseases occur in patients with a genetic syndrome |
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| Two <i>SOX11</i> variants cause <scp>Coffin–Siris</scp> syndrome with a new feature of sensorineural hearing loss |
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| 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients |
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| Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome |
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| The clinical features of <scp><i>OSTM1</i></scp>‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade |
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| Analysis of electrocardiograms in individuals with <scp><i>CDKL5</i></scp> deficiency disorder |
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| Anxiety in Wiedemann–Steiner syndrome |
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| The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study |
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| Table of Contents, Volume 188A, Number 12 December 2022 |
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| Publication schedule for 2022 |
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| GnRH Therapy may Improve Cognitive Function in Down Syndrome |
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| Extra X or Y Chromosome may put Men at Higher Risk for Several Conditions |
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| In This Issue |
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| Expanding <i>SPG7</i> dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia |
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| Expanding the spectrum of clinical severity of <scp>AICA</scp>‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in <scp>ATIC</scp> gene |
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| Tissue mosaicism, <scp><i>FMR1</i></scp> expression and intellectual functioning in males with fragile X syndrome |
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| Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy |
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| 18‐year follow‐up of enzyme‐replacement therapy in two siblings with attenuated mucopolysaccharidosis I |
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| <i>SCAF4</i>‐related syndromic intellectual disability |
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| A severe clinicopathologic phenotype of <i>RAF1</i><scp>Ser257Leu</scp> neomutation in a preterm infant without cardiac anomaly |
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| Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features |
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| Conducting clinical genomics research during the <scp>COVID</scp>‐19 pandemic: Lessons learned from the <scp>CSER</scp> consortium experience |
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| Evolution in the clinic: Maladaptive units and “minor anomalies” |
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| The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience |
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| <scp>5p13</scp> microduplication in a malformed fetus and his unaffected father |
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| Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in <i>ADNP</i> gene |
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| Familial <scp>Beckwith‐Wiedemann</scp> syndrome in a multigenerational family: Forty years of careful phenotyping |
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| Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome |
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| Further characterization of <scp><i>NFIB</i></scp>‐associated phenotypes: Report of two new individuals |
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| <scp>Gillessen‐Kaesbach‐Nishimura</scp> syndrome in two fetuses from Turkey |
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| Lethal respiratory course and additional features expand the phenotypic spectrum of <scp><i>PIEZO2</i></scp>‐related distal arthrogryposis type 5 |
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| Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing |
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| Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature |
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| A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies |
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| Biallelic <scp><i>GTF2IRD1</i></scp> variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome |
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| Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous syndrome: Prenatal consequences of Ras/<scp>MAPK</scp> dysregulation |
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| Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities |
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✓ |
✓ |
African child |
| Recurrent <scp><i>FOXP4</i></scp> nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia |
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| <scp>X‐Linked</scp> intellectual disability update 2022 |
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| Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact |
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| Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia |
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| Teaching perspectives on the communication of difficult news of genetic conditions to medical students |
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| Diagnostic deserts: <scp>Community‐level</scp> barriers to appropriate genetics services |
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| Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements |
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| Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage |
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| A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb |
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| Elevated homocysteine levels: What inborn errors of metabolism might we be missing? |
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| Missense <scp><i>MED12</i></scp> variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes |
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| Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia |
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| Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy |
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| Muscle spasms as presenting feature of <scp>Nivelon‐Nivelon‐Mabile</scp> syndrome |
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| A multicenter study to evaluate pain characteristics in osteogenesis imperfecta |
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| New clinical features in an adult patient with <scp>Skraban‐Deardorff</scp> syndrome |
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| A novel <scp><i>MTX2</i></scp> gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome |
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| <scp><i>ALDH1A2</i>‐related</scp> disorder: A new genetic syndrome due to alteration of the retinoic acid pathway |
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| Mosaic Williams syndrome: A case report |
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| A rare homozygous missense <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) mutation causing <scp>PAH</scp> in siblings: Does <scp>BMP10</scp> status contribute? |
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| Celiac disease prevalence and <scp>predisposing‐HLA</scp> in a cohort of 93 <scp>Williams‐Beuren</scp> syndrome patients |
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| Cornelia de Lange syndrome and cancer: An open question |
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| Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp> |
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| Publication schedule for 2022 |
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| All Grown up and No Place to go |
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| New Genetic Variants Underlying East Asian Facial Morphology |
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| In This Issue |
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| Table of Contents, Volume 188A, Number 11 November 2022 |
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| <scp><i>ERI1</i></scp>: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities |
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| Novel <scp><i>TARS2</i></scp> variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review |
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✓ |
✓ |
Chinese |
| Expanding the clinical spectrum associated with the <scp><i>PACS1</i></scp> p.<scp>Arg203Trp</scp> mutational hot‐spot: Two additional Italian patients |
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✓ |
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Italian patients |
| A homozygous missense variant in the <scp><i>WRN</i></scp> gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease |
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| Homozygous <scp><i>THAP1</i></scp> pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction |
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| Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome |
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| Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system |
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| Epilepsy in <scp>Coffin–Siris</scp> syndrome: A report from the international <scp>CSS</scp> registry and review of the literature |
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| Mystery solved after 23 years: M syndrome is <i>PIGT</i>‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3 |
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| Familial <scp>Bainbridge‐Ropers</scp> syndrome: Report of familial <scp><i>ASXL3</i></scp> inheritance and a milder phenotype |
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| Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis |
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| Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome |
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✓ |
✓ |
African |
| <scp><i>TBX6</i></scp> as a cause of a combined skeletal‐kidney dysplasia syndrome |
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| Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort |
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✓ |
✓ |
Chinese ethnicity (81.5%) |
| Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck? |
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| Heterozygous deletion of the <i>VEGFC</i> gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case report |
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| The perinatal phenotype of Troyer syndrome: Case report and literature review |
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| A novel pathogenic <scp><i>ATP6V1B2</i></scp> variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype |
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| Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus |
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| <scp><i>GABRG1</i></scp> variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay |
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| Ocular manifestations among patients with congenital insensitivity to pain due to variants in <scp><i>PRDM12</i></scp> and <scp><i>SCN9A</i></scp> genes |
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| Debilitating hip degeneration in trichothiodystrophy: Association with <scp><i>ERCC2</i></scp>/<scp><i>XPD</i></scp> mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis |
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| In This Issue |
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| John M. Opitz Award Honorees |
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| Publication schedule for 2022 |
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| Table of Contents, Volume 188A, Number 10 October 2022 |
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| Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by <scp><i>TSPYL1</i></scp> variants |
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| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report |
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| Hypothesis: Symbrachydactyly |
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| Delineating the <i>CCDC22</i>‐related <scp>Ritscher–Schinzel</scp> syndrome phenotype in the original family |
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| Clinical exome sequencing uncovers a high frequency of <scp>Mendelian</scp> disorders in infants with stroke: A retrospective analysis |
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| Biallelic <scp><i>CACNA1A</i></scp> variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay |
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| Cutaneous squamous cell carcinoma in an autosomal‐recessive <scp>Adams–Oliver</scp> syndrome patient with a novel frameshift pathogenic variant in the <scp><i>EOGT</i></scp> gene |
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| Elements of morphology: Standard terminology for the trunk and limbs |
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| Phenotypic variability in <scp><i>RERE</i></scp>‐related disorders and the first report of an inherited variant |
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| Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic <i>TAB2</i> variant in a 3‐generation family |
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| Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements |
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✓ |
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European newborns |
| Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature |
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| Analysis of <scp><i>COL7A1</i></scp> pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation |
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Argentina's population; native South American populations |
| Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study |
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| The diverse pleiotropic effects of spliceosomal protein <scp>PUF60</scp>: A case series of Verheij syndrome |
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| Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic <scp><i>VWA1</i></scp> variants |
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✓ |
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European populations |
| Table of Contents, Volume 188A, Number 9, September 2022 |
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| Publication schedule for 2022 |
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| Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile <scp>Ehlers‐Danlos</scp> syndrome |
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| Cover Image, Volume 188A, Number 9, September 2022 |
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| Advances in Genomic Technologies Change <scp>High‐Risk</scp> Testing for Breast And Colorectal Cancer |
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| <scp>Long‐Read</scp> Sequencing Allows Increased Detection of De Novo Mutations |
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| In This Issue |
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| Further clinical delineation of microcephaly‐capillary malformation syndrome |
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| First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive <i>cutis laxa</i> type 1C |
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| Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly |
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| Are <scp><i>SHROOM4</i></scp> loss‐of‐function variants pathogenic? |
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| Segmental basaloid follicular hamartomas derive from a post‐zygotic <scp>SMO</scp> p.<scp>L412F</scp> pathogenic variant and express hair follicle development‐related proteins in a pattern that distin |
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| Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature |
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| Expanding the phenotype of <scp><i>TAB2</i></scp> variants and literature review |
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| The role of the <scp>University of Padua</scp> medical school in the study of conjoined twins between 18th and early 19th century |
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| Broadening the genotypic and phenotypic spectrum of <scp><i>MAF</i></scp> in three Chinese Han congenital cataracts families |
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| A novel variant in <scp><i>GNPNAT1</i></scp> gene causing a spondylo‐epi‐metaphyseal dysplasia resembling <scp><i>PGM3</i></scp>—Desbuquois like dysplasia |
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| Underrepresentation of the term cerebral palsy in clinical genetics databases |
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| Phenotypic expansion of <scp><i>ARSK</i></scp>‐related mucopolysaccharidosis |
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| Assessing co‐occurring mental health conditions in a multidisciplinary <scp>Down</scp> syndrome clinic and the role of family history |
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| Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience |
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| Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated <scp>Peutz–Jeghers</scp> syndrome? |
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| <scp>Prader–Willi</scp> syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings |
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| Expanding the phenotypic spectrum of <scp><i>COLEC10</i>‐Related 3MC</scp> syndrome: A glimpse into <scp><i>COLEC10</i>‐Related 3MC</scp> syndrome in the Ashkenazi Jewish population |
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Ashkenazi Jewish descent; Jewish descent |
| Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome |
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| <scp><i>EEF1A2</i></scp> pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support |
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| Investigation of genetic and phenotypic heterogeneity in 37 <scp>Turkish</scp> patients with <scp>Kabuki</scp> and <scp>Kabuki</scp>‐like phenotype |
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Turkish |
| Wide range of phenotypic severity in individuals with late truncations unique to the predominant <scp><i>CDKL5</i></scp> transcript in the brain |
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| A novel <scp><i>SLC35D1</i></scp> variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree |
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| <i>PPP2R1A</i> neurodevelopmental disorder is associated with congenital heart defects |
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| Sleep disturbance is a common feature of Kabuki syndrome |
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| Mosaicism of common pathogenic <scp><i>MECP2</i></scp> variants identified in two males with a clinical diagnosis of <scp>Rett</scp> syndrome |
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| Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated |
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| Unexplained regression in Down syndrome: Management of 51 patients in an international patient database |
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| <scp><i>MT‐TA</i></scp> pathogenic variants may cause developmental and epileptic encephalopathy without myopathy |
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| Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in <i>CLDN1</i> |
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| Case report of mild <scp>TCIRG1‐associated</scp> autosomal recessive osteopetrosis in Vietnam |
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| The experience of one pediatric geneticist with <scp>telemedicine‐based</scp> clinical diagnosis |
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| Carnitine deficiency, hearing loss and hydrochlorothiazide‐induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in <i>HNF4A</i> |
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| Quality of life of Brazilian families who have children with <scp>Rubinstein–Taybi</scp> syndrome: An exploratory cross‐sectional study |
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| Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<scp>CDH</scp>+) using <scp>DECIPHER</scp> data |
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| Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders |
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| Speech and language development and genotype–phenotype correlation in 49 individuals with <scp>KAT6A</scp> syndrome |
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| Prevalence of gastrointestinal disorders in individuals with <scp>RASopathies</scp>: May <scp>RAS</scp>/<scp>MAP</scp>/<scp>ERK</scp> pathway dysfunctions be a model of neuropathic pain and visceral h |
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| A retrospective cohort analysis of the Yale pediatric genomics discovery program |
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| Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication |
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| Novel <i>CTNNB1</i> variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report |
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| Pathogenic variants identified using whole‐exome sequencing in <scp>Chinese</scp> patients with primary ciliary dyskinesia |
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| An additional patient with <scp><i>SMAD4‐</i>Juvenile Polyposis‐Hereditary</scp> hemorrhagic telangiectasia and connective tissue abnormalities: <scp><i>SMAD4</i></scp> loss‐of‐function and gain‐of‐fu |
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| Expanding phenotype of <scp><i>FAM111B</i></scp>‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym |
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| Growth in individuals with attenuated mucopolysaccharidosis type <scp>I</scp> during untreated and treated periods: Data from the <scp>MPS I</scp> registry |
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| Postnatal microcephaly and retinal involvement expand the phenotype of <scp><i>RPL10</i></scp>‐related disorder |
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✓ |
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Italian; Spanish |
| <i>WDR35</i> variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy |
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| Phenotypic continuum between <scp><i>POLE</i></scp>‐related recessive disorders: A case report and literature review |
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| Further delineation of <i>GEMIN4</i> related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome |
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✓ |
✓ |
Saudi consanguineous families |
| Re: Best et al., ‘Unlocking the potential of the <scp>UK</scp> 100,000 Genomes Project – Lessons learned from analysis of the “Congenital malformations caused by ciliopathies” cohort’ |
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| Three children with different de novo <scp><i>BCL11A</i></scp> variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene |
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| ECHS1 deficiency and its biochemical and clinical phenotype |
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| Intrafamilial variability in six family members with <i>ERF</i>‐related craniosynostosis syndrome type 4 |
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| Growth in individuals with <i>SATB2</i>‐associated syndrome |
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| Demographics and medical comorbidities among hospitalized patients with <scp>Prader–Willi</scp> Syndrome: A National Inpatient Sample analysis |
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| Congenital myopathy as a new phenotype caused by two undescribed variants in <scp><i>ASCC1</i></scp> gene |
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| Corrigendum <i>DYNC1H1</i>‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. Doi:10.1 |
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| Publication schedule for 2022 |
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| In This Issue |
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| Clinical and molecular features of patients with <scp><i>COL1</i></scp>‐related disorders: Implications for the wider spectrum and the risk of vascular complications |
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✓ |
✓ |
Japanese |
| Table of Contents, Volume 188A, Number 8 August 2022 |
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| In Memoriam: Norio Niikawa, MD, PHD (1942–2022) |
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| Remembering Norio Niikawa, MD, PHD |
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| Mosaic <scp><i>RAI1</i></scp> variant in a <scp>Smith–Magenis</scp> syndrome patient with total anomalous pulmonary venous return |
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| Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature |
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| Genomic and biochemical analysis of repeatedly observed variants in <scp><i>DBT</i></scp> in individuals with maple syrup urine disease of Central American ancestry |
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✓ |
✓ |
Central American ancestry; families who immigrated from Honduras or El Salvador |
| Evidence for an association between <scp>Coffin‐Siris</scp> syndrome and congenital diaphragmatic hernia |
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| High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight |
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| A homozygous <scp>Y443C</scp> variant in the <scp><i>RNPC3</i></scp> is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy |
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| Phenotypic characterization of seven individuals with <scp>Marbach–Schaaf</scp> neurodevelopmental syndrome |
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| Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis |
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| Broadening the phenotypic spectrum of <scp>EVEN‐PLUS</scp> syndrome through identification of <scp><i>HSPA9</i></scp> pathogenic variants in the original <scp>EVE</scp> dysplasia family and two sibs w |
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| Hepatic histologic findings in a case of <scp>MEGDHEL</scp> syndrome due to <scp><i>SERAC1</i></scp> deficiency |
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| Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with <scp>D‐2‐hydroxyglutaric</scp> aciduria type I |
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| Detecting pathogenic deep intronic variants in <scp>Gitelman</scp> syndrome |
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| Carrier screening for Krabbe disease in an isolated inbred community |
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| Functional validation of novel variants in <scp><i>B4GALNT1</i></scp> associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis |
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| Expanding the phenotype of <scp><i>PIK3C2A</i></scp> related syndrome: Report of two siblings with novel features and genotype |
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| Letter to the Editor Regarding Lavanya et al. A patient with a novel pathogenic variant in <i>COL5A1</i> exhibiting prominent vascular and cardiac features |
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| <i>De novo</i> heterozygous variants in <scp><i>SLC30A7</i></scp> are a candidate cause for Joubert syndrome |
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| Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of <scp>SPG64</scp>, a very rare form of hereditary spastic paraplegias |
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| The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature |
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| Exome sequencing identifies genetic variants in anophthalmia and microphthalmia |
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| Prepubertal onset of type 2 diabetes in <scp>Shashi–Pena</scp> syndrome due to <i><scp>ASXL2</scp></i> mutation |
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| Functional significance of novel variants of the <scp><i>MEF2C</i></scp> gene promoter in congenital ventricular septal defects |
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| A Novel nonsense variant in the <i>CDH2</i> gene associated with <scp>ACOGS</scp>: A case report |
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| <i><scp>PIEZO2</scp>‐</i>related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations |
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| Whole exome sequencing identifies a novel compound heterozygous <i>GFM1</i> variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family |
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✓ |
✓ |
Pakhtun Pakistani family |
| Compound heterozygous variants of the <scp><i>NARS2</i></scp> gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome |
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✓ |
✓ |
Japanese |
| Investigating Genetic Associations with Educational Attainment and Health Benefits |
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| In This Issue |
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| Cover Image, Volume 188A, Number 7, July 2022 |
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| Table of Contents, Volume 188A, Number 7, July 2022 |
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| Publication schedule for 2022 |
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| Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test |
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| Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic <i>POLR2A</i> variant |
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| Development of a multidisciplinary clinical approach for unexplained regression in Down syndrome |
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| Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome |
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| Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis |
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| A unique cardiovascular presentation of Marfan syndrome |
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| B‐cell acute lymphoblastic leukemia with <scp>iAMP21</scp> in a patient with Down syndrome due to a constitutional isodicentric chromosome 21 |
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| Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review |
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| Broadening the phenotypic spectrum of <i>TUBA1A</i> tubulinopathy to syndromic arthrogryposis multiplex congenita |
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| Pain and fatigue in adults with <scp>Loeys–Dietz</scp> syndrome and vascular <scp>Ehlers–Danlos</scp> syndrome, a questionnaire‐based study |
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| <i>TTC5</i> syndrome: Clinical and molecular spectrum of a severe and recognizable condition |
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| Pathogenic variants in <i>CASK</i>: Expanding the genotype–phenotype correlations |
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| A missense mutation in <scp><i>DDRGK1</i></scp> gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature |
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| <scp>PERCHING</scp> syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing |
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| A rare cause of infantile achalasia: <scp><i>GMPPA</i>‐congenital</scp> disorder of glycosylation with two novel compound heterozygous variants |
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| Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma‐1 receptor agonist Blarcamesine |
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| Cochlear nerve deficiency in <scp><i>SOX11</i></scp>‐related <scp>Coffin‐Siris</scp> syndrome |
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| Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis |
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| A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants |
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| A homozygous exonic variant leading to exon skipping in <scp><i>ABCC8</i></scp> as the cause of severe congenital hyperinsulinism |
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| Novel phosphopantothenoylcysteine synthetase (<scp><i>PPCS</i></scp>) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of <scp><i>PPCS</i></scp>‐related disorders |
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| Undiagnosed disease program in South Africa: Results from first 100 exomes |
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| Further evidence supporting the role of <scp><i>DUT</i></scp> gene in diabetes with bone marrow failure syndrome |
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| Tuberous sclerosis complex‐associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes |
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| A novel intragenic <i>DPF2</i> deletion identified by genome sequencing in an adult with clinical features of <scp>Coffin‐Siris</scp> syndrome |
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| First reported cases with <scp>Xia‐Gibbs</scp> syndrome from India harboring novel variants in <scp><i>AHDC1</i></scp> |
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✓ |
Indian ("Indian families") |
| A 79‐kb paternally inherited 7q32.2 microdeletion involving <scp><i>MEST</i></scp> in a patient with a <scp>Silver‐Russell</scp> syndrome‐like phenotype |
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| A 40‐year follow‐up of a patient with Graham–Boyle–Troxell syndrome |
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| Clinical heterogeneity in epidermolysis bullosa simplex with plectin (<scp><i>PLEC</i></scp>) mutations—A study of six unrelated families from India |
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| Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of <scp><i>TLL1</i></scp> as a |
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| Expanding <scp><i>ACTA2</i></scp> genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome |
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| Further phenotypic delineation of Alazami syndrome |
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| Ultrarapid Nanopore Genome Sequencing Speeds up Diagnosis in a Critical Care Setting |
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| Table of Contents, Volume 188A, Number 6, June 2022 |
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| Single Assay Tests for More Than 50 Genetic Disorders |
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| Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance |
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| Publication schedule for 2022 |
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| In This Issue |
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| A systematic review and meta‐analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1 |
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| Heterozygous variants in <i>PRPF8</i> are associated with neurodevelopmental disorders |
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| Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome <scp>causing <i>COL3A1</i></scp> variants |
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✓ |
Japanese |
| Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience |
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| Single‐center real‐life experience with testosterone treatment in adult men with Prader–Willi syndrome |
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| Erratum |
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| Further description of two patients with biallelic variants in <scp><i>NADSYN1</i></scp> in association with cardiac and vertebral anomalies |
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| <scp><i>MYH7</i></scp> variants cause complex congenital heart disease |
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| Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature |
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| <scp><i>COASY</i></scp> related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum |
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Asian Indian; Indian |
| <scp>NAD</scp>+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy |
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| Hepatoblastoma in molecularly defined, congenital diseases |
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| Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients |
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| A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study |
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| Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype |
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| Third reported patient with <scp><i>RAP1B</i>‐related</scp> syndromic thrombocytopenia and novel clinical findings |
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| <scp>Late‐onset</scp> Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma |
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| Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County |
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Amish |
| <scp>Loeys–Dietz</scp> syndrome caused by 1q41 deletion including <scp><i>TGFB2</i></scp> is associated with a neurodevelopmental phenotype |
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| ACMG Issues Guidance on Protecting Genomic Data |
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| Wide Range of Outcomes with Different Types of Genetic Testing in Epilepsy |
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| A novel, de novo intronic variant in <scp><i>POGZ</i></scp> causes <scp>White–Sutton</scp> syndrome |
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| Table of Contents, Volume 188A, Number 5, May 2022 |
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| Publication schedule for 2022 |
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| In This Issue |
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| A patient with a novel pathogenic variant in <scp><i>COL5A1</i></scp> exhibiting prominent vascular and cardiac features |
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| Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health |
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| Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome |
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| Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous <scp>< |
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| Novel truncating variants in <scp><i>FGD1</i></scp> detected in two Danish families with <scp>Aarskog–Scott</scp> syndrome and myopathic features |
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| High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects |
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| Genome‐wide <scp>DNA</scp> methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1 |
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| <scp><i>MED12</i>‐related</scp> Hardikar syndrome: Two additional cases and novel phenotypic features |
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| Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies |
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| Germline mosaicism of a missense variant in <scp><i>KCNC2</i></scp> in a multiplex family with autism and epilepsy characterized by long‐read sequencing |
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| Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability |
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| Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent <scp><i>MYRF</i></scp> variant |
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| Smith Magenis syndrome: First case of congenital heart defect in a patient with <i>Rai1</i> mutation |
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| Characteristic physical traits of first‐grade children in the United States with fetal alcohol spectrum disorders (<scp>FASD</scp>) and associated alcohol and drug exposures |
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| The germline p53 activation syndrome: A new patient further refines the clinical phenotype |
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| Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome |
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| A unique pancreatic phenotype in a child with a <scp><i>WDR19</i></scp>‐related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies |
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| A novel <scp><i>GNAS</i></scp> variant presents with disorders of <scp><i>GNAS</i></scp> inactivation and cardiomyopathy |
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| Pitfalls of X‐chromosome inactivation testing in females with Fabry disease |
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| Impact of the <scp>COVID</scp>‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees |
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| Defining the mild variant of leukocyte adhesion deficiency type <scp>II</scp> (<scp>SLC35C1</scp>‐congenital disorder of glycosylation) and response to <scp>l</scp>‐fucose therapy: Insights from two n |
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| Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2 |
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✓ |
Japanese |
| The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting |
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| Novel <i>RETREG1</i> (<scp><i>FAM134B)</i></scp> founder allele is linked to <scp>HSAN2B</scp> and renal disease in a Turkish family |
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| Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser |
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| <scp><i>SHOX</i></scp> far‐downstream deletion in a patient with nonsyndromic short stature |
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| Novel <scp>FGF9</scp> variant contributes to multiple synostoses syndrome 3 |
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| Novel finding of lissencephaly and severe osteopenia in a Chinese patient with <scp><i>SATB2</i></scp>‐associated syndrome and a brief review of literature |
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✓ |
Chinese |
| Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder |
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| Microcephalic primordial dwarfism with predominant <scp>Meier–Gorlin</scp> phenotype, ichthyosis, and multiple joint deformities—Further expansion of <scp>DONSON</scp> Cell Cycle‐opathy phenotypic spe |
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| Novel phenotypic feature in a patient with a recurrent <scp><i>NOTCH2</i></scp> nonsense mutation |
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| Bruck syndrome in 13 new patients: Identification of five novel <scp><i>FKBP10</i></scp> and <scp><i>PLOD2</i></scp> variants and further expansion of the phenotypic spectrum |
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✓ |
✓ |
Egyptian families |
| Sleep‐disordered breathing in pediatric neurofibromatosis type 1 |
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| Publication schedule for 2022 |
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| In This Issue |
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| Table of Contents, Volume 188A, Number 4, April 2022 |
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| Early impact of X‐ and Y‐chromosome variations (<scp>XXX</scp>, <scp>XXY</scp>, <scp>XYY</scp>) on social communication and social emotional development in 1–2‐year‐old children |
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| Characterization of phenotypic range in <scp><i>DYRK1A</i></scp> haploinsufficiency syndrome using standardized behavioral measures |
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| Predictive Model Detects Candidates for Genetic Testing |
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| Implementation Strategies to Address Suboptimal Genetic Referral Practices |
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| Cover Image, Volume 188A, Number 4, April 2022 |
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| A new missense variant in <i>RAB3GAP2</i> in a family with muscular dystrophy–short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype? |
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✓ |
✓ |
Mennonite origin |
| The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery |
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| A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of <scp>Beckwith‐Wiedemann</scp> and Temple syndromes |
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| Erratum to Heterozygous variants in <i>ZBTB7A</i> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin |
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| Identical <scp><i>EP300</i></scp> variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype |
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| Neurological features of Noonan syndrome and related <scp>RASopathies</scp>: Pain and nerve enlargement characterized by nerve ultrasound |
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| A de novo heterozygous <scp><i>HOXA11</i></scp> variant in a patient with mesomelic dysplasia with urogenital abnormalities |
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| Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean |
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| Exome and <scp>RNA‐Seq</scp> analyses of an incomplete penetrance variant in <scp><i>USP9X</i></scp> in female‐specific syndromic intellectual disability |
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| <scp><i>BRPF1</i></scp>‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development |
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| A novel pathogenic variant at the C‐terminal propeptide cleavage site of <i>COL1A1</i>, causing osteogenesis imperfecta with intrafamilial variability |
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| Cantù syndrome: Report of a patient with a novel variant in <scp><i>KCNJ8</i></scp> and revision of literature |
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| Phenotypic and molecular characterization of five patients with <scp><i>PIK3CA</i></scp>‐related overgrowth spectrum (<scp>PROS</scp>) |
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| Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning <i>USP9X</i>, <i>DDX3X</i>, and <i>CASK</i> genes in two patients with syndromic intellectual disability |
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| Hypothesis: Central digit hypoplasia |
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| <scp><i>ADAMTSL4</i>‐related</scp> ectopia lentis: A case of pseudodominance with an asymptomatic parent |
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| The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum |
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| De novo loss‐of‐function variant in <scp><i>PTDSS1</i></scp> is associated with developmental delay |
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| Expansion of the neurodevelopmental phenotypic spectrum of <scp><i>CKAP2L</i></scp>‐related Filippi syndrome to include an adolescent male with normal intellect |
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| Two novel variants in <i>SCARF2</i> gene underlie van den Ende‐Gupta syndrome |
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| Huriez syndrome: Additional pathogenic variants supporting allelism to <scp>SMARCAD</scp> syndrome |
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| Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients |
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| Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of <scp>Crigler–Najjar</scp> syndrome type I and long‐chain <scp>3‐hydroxyacyl‐CoA</scp> dehydrogenase deficiency |
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| <i>PRUNE1</i> c.<scp>933G</scp>>A synonymous variant induces exon 7 skipping, disrupts the <scp>DHHA2</scp> domain, and leads to an atypical <scp>NMIHBA</scp> syndrome presentation: Case report and |
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| Autosomal recessive spinocerebellar ataxia‐20 due to a novel <scp><i>SNX14</i></scp> variant in an Indian girl |
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✓ |
✓ |
Indian; Indian subcontinent |
| Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort |
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✓ |
✓ |
Indian cohort |
| <scp><i>LMOD2</i></scp>‐related dilated cardiomyopathy presenting in late infancy |
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| Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019 |
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| Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2 |
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| Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications |
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| Co‐occurring anomalies in congenital oral clefts |
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| Ear lobe creases: A novel phenotypic feature in <scp>KBG</scp> syndrome |
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| <scp>KBG</scp> syndrome in a Chinese population: A case series |
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✓ |
✓ |
Chinese |
| Corrigendum: Maternal inheritance of <i>BDNF</i> deletion, with phenotype of obesity and developmental delay in mother and child |
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| Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis |
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✓ |
✓ |
Swedish |
| Prenatally detected encephalocele associated with a novel pathogenic<scp><i>TCTN3</i></scp>variant: A case report and literature review |
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| Clinical and biochemical outcomes in cobalamin C deficiency with use of high‐dose hydroxocobalamin in the early neonatal period |
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| Phenotypic spectrum of the recurrent <i>TRPM3</i> p.(<scp>Val837Met</scp>) substitution in seven individuals with global developmental delay and hypotonia |
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| Platelet function and filamin A expression in two families with novel <i>FLNA</i> gene mutations associated with periventricular nodular heterotopia and panlobular emphysema |
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| In This Issue |
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| Gene Variants Identified for Fibromuscular Dysplasia |
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| Publication schedule for 2022 |
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| Table of Contents, Volume 188A, Number 3, March 2022 |
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| Wide Variability in Clinician Practices for Interpreting Genetic Test Results |
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| <scp><i>NEXMIF</i></scp> pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent |
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✓ |
Korean, Vietnamese descent, Mexican descent, Hispanic |
| Expanding the phenotype of <scp><i>HNRNPU</i></scp>‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature |
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| Clinical refinement of the <scp><i>SETD5</i></scp>‐associated phenotype in a child displaying novel features and <scp>KBG</scp> syndrome‐like appearance |
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| Further delineation of <scp><i>SET</i></scp>‐related intellectual disability syndrome |
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| Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia |
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| Refining reproductive risk for <scp><i>FMR1</i></scp> premutation carriers in the general obstetric population |
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| Recurrent pneumothorax in a case of t<scp>enascin‐X</scp> deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum |
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| Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome |
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| Proposed clinical approach and imaging studies in families with <scp>oculo‐auriculo‐vertebral</scp> spectrum to assess variable expressivity |
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| Caregivers evaluate independence in individuals with Down syndrome |
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| Probing the functional consequence and clinical relevance of <scp><i>CD320</i></scp> p.E88del, a variant in the transcobalamin receptor gene |
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| Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies |
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| Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta |
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| Postzygotic mosaicism of a novel <scp><i>PTPN11</i></scp> mutation in monozygotic twins discordant for metachondromatosis |
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| Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility |
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| Strengths and challenging behaviors in children and adolescents with<scp>Prader‐Willi</scp>syndrome: Two sides to the coin |
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| Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type <scp>XX</scp> caused by a homozygous <scp><i>MESD</i></scp> variant |
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✓ |
✓ |
Turkish |
| A <scp><i>SOX3</i></scp> duplication and lumbosacral spina bifida in three generations |
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| Neuropsychiatric features of <scp>Prader–Willi</scp> syndrome |
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| Whole exome sequencing studies in epilepsy: A deep analysis of the published literature |
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| A truncating variant in the <scp><i>THOC6</i></scp> gene with new findings in a patient with <scp>Beaulieu‐Boycott‐Innes</scp> syndrome |
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| Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of <scp><i>AMMECR1</i></scp> |
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| <scp>SHORT</scp> syndrome in an adult Brazilian patient |
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| Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways |
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| Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic <scp>SNV</scp> in a lung‐specific enhancer in <i>trans</i> to the frameshifting <scp><i>TBX4</i></scp> var |
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| Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital |
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| Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models |
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| Near complete deletion of <scp><i>KMT2D</i></scp> in a college student |
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| Refining the clinical phenotype associated with missense variants in exons 38 and 39 of <scp><i>KMT2D</i></scp> |
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| The utility of <scp>DNA</scp> methylation signatures in directing genome sequencing workflow: Kabuki syndrome and <scp>CDK13</scp>‐related disorder |
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| Werner syndrome in a Lebanese family |
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| Delayed diagnosis and racial bias in children with genetic conditions |
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| The p.<scp>Thr395Met</scp> missense variant of <scp><i>NFIA</i></scp> found in a patient with intellectual disability is a defective variant |
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| The recurrent homozygous translation start site variant in <scp><i>CCDC134</i></scp> in an individual with severe osteogenesis imperfecta of <scp>non‐Morrocan</scp> ancestry |
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✓ |
✓ |
"non‐Morrocan ancestry", "Moroccan origin", "Brazilian"/"Brazilian boy" |
| <scp>Ehlers‐Danlos</scp>/myopathy overlap syndrome caused by a large de novo deletion in <scp><i>COL12A1</i></scp> |
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| Table of Contents, Volume 188A, Number 2, February 2022 |
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| Clinical and molecular characterization of five new individuals with <scp><i>WAC</i></scp>‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant |
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✓ |
✓ |
different ethnic backgrounds |
| In This Issue |
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| Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for <scp><i>SMAD4</i></scp> in human neural crest defects |
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| Publication schedule for 2022 |
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| ACMG Updates Chromosomal Microarray Analysis Guidelines |
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| Genome‐Wide Cell‐Free DNA Screening Tests Go Beyond Scope of Traditional cfDNA Assays |
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| Cover Image, Volume 188A, Number 2, February 2022 |
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| Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees |
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| The diagnostic utility of exome‐based carrier screening in families with a positive family history |
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| Congenital heart defects associated with pathogenic variants in <scp><i>WAC</i></scp> gene: Expanding the phenotypic and genotypic spectrum of <scp>DeSanto–Shinawi</scp> syndrome |
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| Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency |
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| The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review |
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✓ |
✓ |
Chinese |
| Growth charts for Mexican children with Down syndrome |
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| A novel intronic <scp><i>PORCN</i></scp> variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia |
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| Resequencing of <scp>VEGFR3</scp> pathway genes implicate <scp><i>GJC2</i></scp> and <scp><i>FLT4</i></scp> in the formation of primary congenital chylothorax |
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| Pathogenic variant in <i>NFIA</i> associated with subdural hematomas mimicking nonaccidental trauma |
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| Family perspectives on gaps in health care for people with Down syndrome |
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| Longitudinal analysis of symptoms in the <scp>Ehlers‐Danlos</scp> syndromes |
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| Bilateral choanal stenosis in auriculocondylar syndrome caused by a <scp><i>PLCB4</i></scp> variant |
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| Fetal presentation of chondrodysplasia with joint dislocations, <scp>GPAPP</scp> type, caused by novel biallelic <scp><i>IMPAD1</i></scp> variants |
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✓ |
✓ |
Asian‐Indian |
| Healthcare utilization among youth with <scp>Ehlers–Danlos</scp> syndrome hypermobile type |
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| Monosomy 1p36: Report of a cohort of 13 Asian Indian patients |
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✓ |
✓ |
Asian Indian |
| <scp><i>FMR1</i></scp> premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed? |
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| Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics |
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✓ |
✓ |
Hispanic; Spanish‐speaking |
| Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening |
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