| Phenotypic heterogeneity of <i>POMT2</i> gene variants |
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| <i>UBE2A</i> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism |
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| Genetic diagnosis of Down syndrome in an underserved community |
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| Expanding the phenotype associated with biallelic <i>WDR60</i> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies |
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✓ |
✓ |
Pakistani |
| The novel <i>RAF1</i> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor |
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| Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study |
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| Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies |
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✓ |
✓ |
different ethnic backgrounds |
| Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X |
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| Elsahy–Waters syndrome is caused by biallelic mutations in <i>CDH11</i> |
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| A novel <i>SAMD9</i> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history |
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| VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5 |
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| Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results |
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| Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome |
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| The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome |
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| Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision‐making |
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| Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome |
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| Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the <i>IGF1R</i> gene |
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| “Lowe syndrome: A particularly severe phenotype without clinical kidney involvement” |
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✓ |
✓ |
Egyptian male |
| Table of Contents, Volume 176A, Number 1, January 2018 |
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| Publication schedule for 2017 |
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| Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability |
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| Novel compound heterozygous mutations in <i>GPT2</i> linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia |
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| Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome |
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| A novel truncating variant within exon 7 of <i>KAT6B</i> associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the |
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| A novel homozygous <i>SLC25A1</i> mutation with impaired mitochondrial complex V: Possible phenotypic expansion |
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| Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus |
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| Testing scenario for intellectual disability, developmental delay, and autism challenged |
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| A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot |
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| Associations between laterality of orofacial clefts and medical and academic outcomes |
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| In this issue |
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| Cover Image, Volume 176A, Number 1, January 2018 |
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| Exome sequencing helps diagnose infants in the ICU |
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| Biallelic mutations in <i>LARS2</i> can cause Perrault syndrome type 2 with neurologic symptoms |
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| Phelan‐McDermid syndrome and cancer predisposition: The value of a karyotype |
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| Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) |
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| Auditory evoked potentials in children and adolescents with Down syndrome |
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| Therapy development in Huntington disease: From current strategies to emerging opportunities |
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| Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities |
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| Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A |
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✓ |
✓ |
race ("matched on BMI/age/gender/race") |
| Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation |
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| Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome |
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| Clinical and genetic characterization of <i>AP4B1</i>‐associated SPG47 |
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| Rare <i>FMR1</i> gene mutations causing fragile X syndrome: A review |
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| Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012 |
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| Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms |
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| Biallelic mutations in <i>NALCN</i>: Expanding the genotypic and phenotypic spectra of IHPRF1 |
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| Novel <i>STRA6</i> null mutations in the original family described with Matthew–Wood syndrome |
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| Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency |
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| Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome |
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| Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome |
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| Expanding the neurodevelopmental phenotype of<i>PURA</i>syndrome |
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| p.Arg69Trp in <i>RNASEH2C</i> is a founder variant in three Indian families with Aicardi–Goutières syndrome |
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✓ |
✓ |
Indian, Asians |
| A model to characterize psychopathological features in adults with Prader‐Willi syndrome |
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| Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family |
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✓ |
✓ |
Mexican family |
| Wieacker–Wolff syndrome with associated cleft palate in a female case |
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| Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study |
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| Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis |
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| Temple syndrome as a differential diagnosis to Prader–Willi syndrome: Identifying three new patients |
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| <i>FGFR1</i> disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism |
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| Tarsal‐carpal coalition syndrome: Report of a novel missense mutation in <i>NOG</i> gene and phenotypic delineation |
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✓ |
✓ |
Indian origin |
| Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay |
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| Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, T |
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| Response to: “In reply to: ‘Mast Cell Disorders in Ehlers–Danlos Syndrome’ (Jaime Vengoechea, Department of Human Genetics, Emory University)” |
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| <i>MED13L</i> loss‐of‐function variants in two patients with syndromic Pierre Robin sequence |
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| Whole exome sequencing reveals a mutation in <i>ARMC9</i> as a cause of mental retardation, ptosis, and polydactyly |
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| Kaufman oculocerebrofacial syndrome: Novel <i>UBE3B</i> mutations and clinical features in four unrelated patients |
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| Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities |
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| Discordant fetal phenotype of hypophosphatasia in two siblings |
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✓ |
✓ |
Japanese |
| Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child |
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| Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review |
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| Family management of childhood chronic conditions: Does it make a difference if the child has an intellectual disability? |
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| Table of Contents, Volume 173A, Number 12, December 2017 |
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| Publication schedule for 2017 |
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| Study Points to Value of Genetic Testing in Epilepsy |
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| Cryptographic Strategy Could Deliver Better Genomic Privacy |
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| Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients |
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| In this issue |
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| “Minimal” holoprosencephaly in a 14q deletion syndrome patient |
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| A heterozygous mutation in <i>RPGR</i> associated with X‐linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX) |
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| Cover Image, Volume 173A, Number 12, December 2017 |
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| Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient |
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| Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines |
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| Short rib syndrome Beemer–Langer type, a short history |
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| Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients |
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| Further delineation of the GDF6 related multiple synostoses syndrome |
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| A homozygous deleterious <i>CDK10</i> mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness |
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| Familial choreoathetosis due to novel heterozygous mutation in <i>PDE10A</i> |
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| How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with <i>CHAT</i> or <i>SLC18A3</i> mutations lead to congenital myasthenic syndrome |
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| Expanding the phenotypic spectrum of <i>TP63</i>‐related disorders including the first set of monozygotic twins |
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| <i>DOCK3</i>‐related neurodevelopmental syndrome: Biallelic intragenic deletion of <i>DOCK3</i> in a boy with developmental delay and hypotonia |
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| In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome” |
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| Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients |
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| STAR syndrome plus: The first description of a female patient with the lethal form |
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| Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene |
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| Novel pregnancy‐triggered episodes of CAPOS syndrome |
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| Novel mutations in the <i>LRP5</i> gene in patients with Osteoporosis‐pseudoglioma syndrome |
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| In this issue |
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| Cover Image, Volume 173A, Number 11, November 2017 |
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| Publication schedule for 2017 |
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| Opitz award paper describes skeletal disorder |
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| Cautious approach to genome editing urged |
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| Table of Contents, Volume 173A, Number 9, September 2017 |
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| Defective ciliogenesis in <i>INPP5E‐</i>related Joubert syndrome |
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| Biallelicframeshift mutation in <i>RIN2</i> in a patient with intellectual disability and cataract, without RIN2 syndrome |
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| Novel recessive <i>PDZD7</i> biallelic mutations in two Chinese families with non‐syndromic hearing loss |
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| Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome |
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| Mutations of <i>KIF5C</i> cause a neurodevelopmental disorder of infantile‐onset epilepsy, absent language, and distinctive malformations of cortical development |
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| Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3 |
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| Homozygous indel mutation in <i>CDH11</i> as the probable cause of Elsahy–Waters syndrome |
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| A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non‐coding element |
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| Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome |
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| Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study |
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| Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae |
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| <i>BCL11A</i> frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems |
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✓ |
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Western European origin |
| Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review |
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| Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy |
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| Mutations in folate transporter genes and risk for human myelomeningocele |
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✓ |
✓ |
ethnically matched reference populations; other NTD populations |
| Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature |
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✓ |
✓ |
chinese; Asian |
| Finding the genetic mechanisms of folate deficiency and neural tube defects—Leaving no stone unturned |
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✓ |
✓ |
Hispanic; race |
| De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome |
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| A randomized controlled trial of levodopa in patients with Angelman syndrome |
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| Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome |
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| Loss‐of‐function variants in <i>NFIA</i> provide further support that <i>NFIA</i> is a critical gene in 1p32‐p31 deletion syndrome: A four patient series |
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| Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II |
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| The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias |
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| Corrigendum: Psychiatric and psychological aspects in the Ehlers–Danlos syndromes |
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| A cohort study of multiple families with <i>FBN1</i> p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy |
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| From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders |
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| The Influence of trisomy 21 on facial form and variability |
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| Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length |
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| Confirmation that <i>RIPK4</i> mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome |
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| The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies |
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| Publication schedule for 2017 |
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| In this issue |
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| Cover Image, Volume 173A, Number 10, October 2017 |
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| New intellectual disability syndrome identified |
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| Table of Contents, Volume 173A, Number 10, October 2017 |
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| Genome‐wide cell free fetal DNA screening spots variations standard screening doesn't |
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| De novo <i>SETD5</i> loss‐of‐function variant as a cause for intellectual disability in a 10‐year old boy with an aberrant blind ending bronchus |
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| Treating pediatric neuromuscular disorders: The future is now |
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| Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations? |
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✓ |
✓ |
Dutch population |
| <i>HLX</i> is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia |
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| Compound heterozygous <i>TRPV4</i> mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy |
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| Confirmation of an <i>ARID2</i> defect in SWI/SNF‐related intellectual disability |
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| Novel homozygous missense mutation in <i>NT5C2</i> underlying hereditary spastic paraplegia SPG45 |
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✓ |
✓ |
Arab Muslim origin |
| Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey |
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| Survival beyond the perinatal period expands the phenotypes caused by mutations in <i>GLE1</i> |
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| A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies |
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| Congenital heart defects in molecularly proven Kabuki syndrome patients |
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| FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? |
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| Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation |
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| Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date |
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| Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting |
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| Chimerism for 20q11.2 microdeletion of <i>GDF5</i> explains discordant phenotypes in monochorionic‐diamniotic twins |
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| Peeling skin syndrome associated with novel variant in <i>FLG2</i> gene |
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| Two novel mutations in <i>XYLT2</i> cause spondyloocular syndrome |
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| Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, <i>SLC35A1</i> |
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| Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review |
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| Factors related to home health‐care transition in trisomy 13 |
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| Congenital neurodevelopmental anomalies in pediatric and young adult cancer |
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| De novo pathogenic variant in <i>TUBB2A</i> presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay |
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| In this issue |
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| Table of Contents, Volume 173A, Number 9, September 2017 |
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| Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years |
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| A splice‐site variant in <i>ANKRD11</i> associated with classical KBG syndrome |
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| Estimation of live birth and population prevalence of Down syndrome in nine U.S. states |
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✓ |
✓ |
non-Hispanic whites |
| Few direct‐to‐consumer test users receive genetic counseling |
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| Dolichol kinase deficiency (DOLK‐CDG): Two new cases and expansion of phenotype |
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| Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research |
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| A novel heterozygous mutation in <i>FGFR2</i> gene causing Pfeiffer syndrome |
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| A new <i>CUL4B</i> variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy |
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| Cystic kidneys in fetal Walker–Warburg syndrome with <i>POMT2</i> mutation: Intrafamilial phenotypic variability in four siblings and review of literature |
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| The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea |
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| Prevalence of gastrointestinal symptoms in Angelman syndrome |
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| The role of <i>IQSEC2</i> in syndromic intellectual disability: Narrowing the diagnostic odyssey |
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| Progressive macrothrombocytopenia and hearing loss in a large family with <i>DIAPH1</i> related disease |
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✓ |
✓ |
Japanese |
| Continuous hypomethylation of the <i>KCNQ1OT1</i>:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome |
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| Publication schedule for 2017 |
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| Infants with cystic fibrosis still lag on some growth measures |
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| The pregnancy in neurofibromatosis 1: A retrospective register‐based total population study |
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✓ |
✓ |
Finnish |
| Epilepsy in fragile‐X‐syndrome mimicking panayiotopoulos syndrome: Description of three patients |
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| New intragenic rearrangements in non‐Finnish mulibrey nanism |
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✓ |
✓ |
non-Finnish; North France |
| Neonatal fractures as a presenting feature of <i>LMOD3</i>‐associated congenital myopathy |
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| Paternal transmission of a <i>FMR1</i> full mutation allele |
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| Clinical and molecular characterization of de novo loss of function variants in <i>HNRNPU</i> |
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| Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in <i>KMT2A</i> |
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✓ |
✓ |
Japanese |
| Cover Image, Volume 173A, Number 9, September 2017 |
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| Challenges of developing and conducting clinical trials in rare disorders |
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| Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome |
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| Interstitial deletion 5p14.1‐p15.2 and 5q14.3‐q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities |
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| Vitamin D levels in Smith‐Lemli‐Opitz syndrome |
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| Co‐occurrence of Sturge–Weber syndrome and Klippel–Trenaunay–Weber syndrome phenotype: Consideration of the historical aspect |
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| A novel genetic syndrome with <i>STARD9</i> mutation and abnormal spindle morphology |
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| ALG13‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing |
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| Skewed X‐inactivation in a family with <i>DLG3‐</i>associated X‐linked intellectual disability |
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| A human case of <i>SLC35A3</i>‐related skeletal dysplasia |
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| Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome |
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✓ |
✓ |
Native American; non-Native American; Lumbee Native American; Qatari; Puerto Rican; Native American |
| Expanding the phenotype of <i>DST</i>‐related disorder: A case report suggesting a genotype/phenotype correlation |
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| Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays |
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| Best practices in peri‐operative management of patients with skeletal dysplasias |
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| Three cases of multi‐generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? |
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| Monoallelic <i>FGFR3</i> and Biallelic <i>ALPL</i> mutations in a Thai girl with hypochondroplasia and hypophosphatasia |
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| Noonan syndrome in diverse populations |
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✓ |
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✓ |
✓ |
✓ |
European descent; African descent; African; Asian; Latin American |
| Autopsy findings in <i>EPG5</i>‐related Vici syndrome with antenatal onset |
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| Co‐occurring Down syndrome and <i>SUCLA2</i>‐related mitochondrial depletion syndrome |
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✓ |
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✓ |
Hispanic descent; Italian |
| Congenital disorders of glycosylation: The Saudi experience |
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✓ |
✓ |
Saudi |
| Novel <i>PRPS1</i> gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies |
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| Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion |
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| Additional report on Moreno‐Nishimura‐Schmidt overgrowth syndrome |
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| Biallelic <i>COL3A1</i> mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities |
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| <scp>MED</scp> resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase <scp>CANT1</scp> |
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| Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients |
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| Drug discovery and development for rare genetic disorders |
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| Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with <i>ribosomal protein L11</i> splicing variant |
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| Cover Image, Volume 173A, Number 8, August 2017 |
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| In this issue |
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| Table of Contents, Volume 173A, Number 8, August 2017 |
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| Publication schedule for 2017 |
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| 23andMe resumes giving consumers genetic health information |
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| Greater focus on patient data sharing urged |
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| Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the <i>POLH</i> gene |
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✓ |
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| Cervical artery dissection expands the cardiovascular phenotype in <i>FBN1</i>‐related Weill–Marchesani syndrome |
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| Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the <i>KAT6B</i> related disorders |
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| The phenotype of <i>EZH2</i> haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability |
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| A novel microduplication of <i>ARID1B</i>: Clinical, genetic, and proteomic findings |
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| Automatic recognition of the <scp>XLHED</scp> phenotype from facial images |
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| Neural tube defects in Waardenburg syndrome: A case report and review of the literature |
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| <i>RNF213</i> variants in a child with PHACE syndrome and moyamoya vasculopathy |
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| Juvenile‐onset generalized lipodystrophy due to a novel heterozygous missense <i>LMNA</i> mutation affecting lamin C |
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✓ |
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| Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes |
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| Homozygous null variant in <i>CRADD</i>, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly |
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| Demographics and co‐occurring conditions in a clinic‐based cohort with Down syndrome in the United Arab Emirates |
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| A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies |
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| Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events |
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| Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease |
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| <i>FOXC1</i> haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease |
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| von Hippel‐Lindau development in children and adolescents |
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| Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype |
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| Deficiency of <i>WARS2</i>, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy |
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| Two patients with the heterozygous R189H mutation in <i>ACTA2</i> and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome |
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| Expansion of the phenotype of Kosaki overgrowth syndrome |
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| Growth hormone excess in children with neurofibromatosis type‐1 and optic glioma |
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| Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins |
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| <i>SERPINI1</i> pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy |
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| The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci |
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| Expanding the allelic disorders linked to <i>TCTN1</i> to include Varadi syndrome (Orofaciodigital syndrome type VI) |
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| Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain |
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✓ |
✓ |
Pakistani |
| Variants in <i>KAT6A</i> and pituitary anomalies |
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| Marfan syndrome with a homozygous <i>FBN1</i> splicing mutation |
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| Xq26.1‐26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle |
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| Motor performance in children with Noonan syndrome |
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| Characterization of thrombosis in patients with Proteus syndrome |
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| The immune deficiency of chromosome 22q11.2 deletion syndrome |
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| Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood |
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| Psychiatric and cognitive characteristics of individuals with Danon disease (<i>LAMP2</i> gene mutation) |
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| Cover Image, Volume 173A, Number 7, July 2017 |
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| In this issue |
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| Publication schedule for 2017 |
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| Table of Contents, Volume 173A, Number 7, July 2017 |
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| Proposed federal legislation could compromise genetic privacy |
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| Agreement reached on initially discordant genetic variant interpretations |
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| Variable expressivity of a likely pathogenic variant in <i>KCNQ2</i> in a three‐generation pedigree presenting with intellectual disability with childhood onset seizures |
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| Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions |
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| Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter |
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| Growth charts for Australian children with achondroplasia |
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| Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment |
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✓ |
✓ |
male of Han ethnicity |
| On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant <i>KMT2D</i> mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion |
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| A heterozygous microdeletion of 20p12.2–3 encompassing <i>PROKR2</i> and <i>BMP2</i> in a patient with congenital hypopituitarism and growth hormone deficiency |
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| Co‐occurrence of Jalili syndrome and muscular overgrowth |
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| Associated anomalies in cases with esophageal atresia |
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| Neuroradiographic findings in 22q11.2 deletion syndrome |
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| A new diagnosis of Williams–Beuren syndrome in a 49‐year‐old man with severe bullous emphysema |
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| Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome |
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| A heritable microduplication encompassing <i>TBL1XR1</i> causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome |
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| Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients |
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| A novel mutation in <i>GMPPA</i> in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction |
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| Anthropometric charts and congenital anomalies in newborns with Down syndrome |
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| Revisions to common rule regarding human research issued |
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| Publication schedule for 2017 |
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| Reanalyzing exomes may be worthwhile |
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| In this issue |
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| Cover Image, Volume 173A, Number 6, June 2017 |
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| Table of Contents, Volume 173A, Number 6, June 2017 |
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| Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the <i>MOCS3</i> gene |
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| Mandibulofacial dysostosis Bauru type: Refining the phenotype |
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| A novel variant in <i>MED12</i> gene: Further delineation of phenotype |
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| Renal anomalies and lymphedema distichiasis syndrome. A rare association? |
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| Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support |
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| Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the <i>SH2B1</i> gene |
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| 4.7 Mb deletion encompassing <i>TGFB2</i> associated with features of Loeys–Dietz syndrome and osteoporosis in adulthood |
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| Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in <i>LAMA5</i> combines myopia, facial tics, and failure of neuromuscular transmission |
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| 37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting |
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| Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic <i>PIK3CA</i> mutation |
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| A tumor profile in Patau syndrome (trisomy 13) |
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| A mutation in <i>GABRB3</i> associated with Dravet syndrome |
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| Haploinsufficiency of <i>NR4A2</i> is associated with a neurodevelopmental phenotype with prominent language impairment |
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| Phenotypes and genotypes in individuals with <i>SMC1A</i> variants |
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| Identification of a de novo variant in <i>CHUK</i> in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia |
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| <i>CMIP</i> haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues |
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| A rapid gene sequencing panel strategy to facilitate precision neonatal medicine |
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| Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic <i>AMER1</i> frameshift mutation |
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| Recurrent <i>ATP2A2</i> p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease |
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| Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype |
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| Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center |
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| Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities |
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| Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review |
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| Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort |
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| Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye |
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| A comparison of the functional health of children with Costello syndrome in 1999 and in 2015 |
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| Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome |
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| Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature |
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| Homozygous microdeletion of the <i>ERI1</i> and <i>MFHAS1</i> genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation |
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| Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos‐Machancoses et al. () |
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| Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34‐q36.3 heterozygous terminal deletion |
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| Sclerotic bone lesions in tuberous sclerosis complex: A genotype–phenotype study |
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| Acne conglobata in a long‐term survivor with trisomy 13, accompanied by selective IgM deficiency |
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| Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism |
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| Nomenclature and definition in asymmetric regional body overgrowth |
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| Whole exome sequencing of families with 1q21.1 microdeletion or microduplication |
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| Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the <i>ADNP</i> gene detected by exome sequencing |
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| Response to: Milosavljevic et al. “Two cases of <i>RIT1</i> associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature” |
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| Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome |
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| Somatic Mosaicism of <i>PCDH19</i> in a male with early infantile epileptic encephalopathy and review of the literature |
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| Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II |
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| <i>PLXNA1</i> developmental encephalopathy with syndromic features: A case report and review of the literature |
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| 6q25.1 (<i>TAB2</i>) microdeletion syndrome: Congenital heart defects and cardiomyopathy |
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| Response to: Toriello et al., “Update on the Toriello–Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12‐q42.2 |
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| Vascular twin nevi |
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| KBG syndrome: An Australian experience |
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| Trisomy 18 and holoprosencephaly |
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| A case of familial transmission of the newly described <i>DNMT3A</i>‐Overgrowth Syndrome |
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| The impact of a sibling's life‐limiting genetic condition on adult brothers and sisters |
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| Wiedemann–Rautenstrauch syndrome: A phenotype analysis |
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| Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly |
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| Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome? |
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| Lissencephaly: Expanded imaging and clinical classification |
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| Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a <i>FLNA</i> gene mutation |
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| Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet |
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| Novel de novo <i>FOXC1</i> nonsense mutation in an Axenfeld‐Rieger syndrome patient |
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| Novel 3q27.2‐qter deletion in a patient with Diamond–Blackfan anemia and immunodeficiency: Case report and review of literature |
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| Compound heterozygous mutations in <i>COL1A1</i> associated with an atypical form of type I osteogenesis imperfecta |
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| Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers–Danlos syndrome cohort |
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| Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy? |
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| The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis |
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| DiGeorge‐like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus |
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✓ |
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| Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature |
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| Table of Contents, Volume 173A, Number 5, May 2017 |
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| Publication schedule for 2017 |
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| Mutations in <i>TGDS</i> associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus |
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| Cranial irradiation in childhood mimicking neurofibromatosis type II |
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| Homozygous variant in <i>C21orf2</i> in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum |
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| Variable phenotype in a novel mutation in <i>PHOX2B</i> |
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| Cover Image, Volume 173A, Number 5, May 2017 |
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| Foremost Prenatal Physician, Scientist Tapped to Lead National Child Health Agency |
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| In This Issue |
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| Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience |
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✓ |
✓ |
✓ |
European children; Italian–French |
| Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature |
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| De Novo Variants Associated With Developmental Disability |
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| Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the <i>ADNP</i> gene |
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| A further family of Stromme syndrome carrying <i>CENPF</i> mutation |
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| Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy |
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| Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders |
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| De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome |
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| Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature |
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| Defining mandibular morphology in Robin sequence: A matched case‐control study |
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| Gene‐gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non‐syndromic cleft lip with or without cleft palate in Chinese case‐parent trios |
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✓ |
✓ |
Chinese populations; Chinese case-parent trios |
| Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in <i>SLC19A3</i>, and calculation of prevalence based on allele frequencies f |
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| Association studies of low‐frequency coding variants in nonsyndromic cleft lip with or without cleft palate |
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| Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age |
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| Three families with mild PMM2‐CDG and normal cognitive development |
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| Recurrence of congenital heart defects among siblings—a nationwide study |
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| WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion |
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| Novel MCA/ID syndrome with <i>ASH1L</i> mutation |
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| Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype |
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| Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature |
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| Neonatal characteristics and perinatal complications in neonates with Down syndrome |
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| Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn |
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| Intragenic deletion of the <i>WDR45</i> gene in a male with encephalopathy, severe psychomotor disability, and epilepsy |
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| Long‐term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita |
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| A height‐for‐age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data |
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| Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype |
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| Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome |
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| A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome |
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| Neurofibromatosis type 2: Multiple intra‐dermal tumors in a toddler |
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| Newborn screening for spinal muscular atrophy: The views of affected families and adults |
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| Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp |
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| Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum |
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| Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings |
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| Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern |
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| Oxytocin treatment in children with Prader–Willi syndrome: A double‐blind, placebo‐controlled, crossover study |
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| Bilateral second toe superposition associated with neurofibromatosis type 1 and <i>NF1</i> whole gene deletion |
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| Variations on the theme of how to write a scientific article |
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| John M Opitz, Founder of AJMG, awarded the German Merit of Honor |
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| Nonsense pathogenic variants in exon 1 of <i>PHOX2B</i> lead to translational reinitiation in congenital central hypoventilation syndrome |
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| <i>DDX3X</i> mutations in two girls with a phenotype overlapping Toriello–Carey syndrome |
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| The proceedings of the 15th professional conference on Williams Syndrome |
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| <i>MED13L</i> haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism |
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| In gratitude for an undeserved gift* |
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| Molecular analysis of a novel intragenic deletion in <i>GPC3</i> in three cousins with Simpson–Golabi–Behmel syndrome |
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| A de novo nonsense mutation in <i>ZBTB18</i> plus a de novo 15q13.3 microdeletion in a 6‐year‐old female |
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| <i>ZC4H2</i> deletions can cause severe phenotype in female carriers |
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| Clinical features of trisomy 12 mosaicism—Report and review |
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| Normal IQ is possible in Smith‐Lemli‐Opitz syndrome |
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| <i>Alu</i>‐mediated deletion of <i>PIGL</i> in a Patient with CHIME syndrome |
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| Introduction Special Series: Professor John M. Opitz, Founding Editor of <i>AJMG</i>, Awarded the Order of Merit from the Federal Republic of Germany |
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| Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites |
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| Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in <i>IFT122</i> |
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| Mortality in Joubert syndrome |
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| Inherited germline <i>ATRX</i> mutation in two brothers with ATR‐X syndrome and osteosarcoma |
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| NDUFS4‐related Leigh syndrome in Hutterites |
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| Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation |
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| <i>BCAP31‐</i>associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy |
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| Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use |
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| Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic <i>WDR35</i> mutations |
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✓ |
✓ |
Polish family |
| Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study |
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| The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in <i>ARID1B</i> |
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| The association of maternal lymphatic markers and critical congenital heart defects in the fetus—A population based case‐control study |
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| Multigenerational pedigree with STAR syndrome: A novel <i>FAM58A</i> variant and expansion of the phenotype |
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| A novel aberrant splice site mutation in <i>COL27A1</i> is responsible for Steel syndrome and extension of the phenotype to include hearing loss |
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|
✓ |
✓ |
Puerto Rican; Emirati |
| Mystery solved: Our son's autism and extreme self‐injury is genetic and treatable |
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| Novel compound heterozygous mutations in <i>BCS1L</i> gene causing Bjornstad syndrome in two siblings |
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✓ |
✓ |
Italian |
| Publication schedule for 2017 |
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| In this issue |
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| Two patients with the heterozygous R189H mutation in <i>ACTA2</i> and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome |
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| Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of <i>DIS3L2</i> |
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| Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the <i>NSD1</i> gene |
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| Noonan syndrome, <i>PTPN11</i> mutations, and brain tumors. A clinical report and review of the literature |
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| Recessive mutations in <i>SLC35A3</i> cause early onset epileptic encephalopathy with skeletal defects |
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| Brain morphology in children with nevoid basal cell carcinoma syndrome |
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| A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome |
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✓ |
✓ |
Japanese |
| The phenotypic spectrum of congenital Zika syndrome |
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| Lawsuit raises questions about variant interpretation and communication |
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| Cover Image, Volume 173A, Number 4, April 2017 |
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| Table of Contents, Volume 173A, Number 4, April 2017 |
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| Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann–Pick disease type C1 patients |
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| Somatic <i>PIK3CA</i> mutations in seven patients with <i>PIK3CA</i>‐related overgrowth spectrum |
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| A novel patient with an attenuated Costello syndrome phenotype due to an <i>HRAS</i> mutation affecting codon 146—Literature review and update |
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| Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18 |
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| Turner syndrome‐specific and general population Z‐scores are equivalent for most adults with Turner syndrome |
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| Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11 |
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| A qualitative study of adolescents’ understanding of biobanks and their attitudes toward participation, re‐contact, and data sharing |
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| Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in <i>IARS2</i> |
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✓ |
✓ |
French–Canadian descent; Danish |
| Exome sequencing identifies novel <i>NTRK1</i> mutations in patients with HSAN‐IV phenotype |
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| Homozygous mutation in <i>PTRH2</i> gene causes progressive sensorineural deafness and peripheral neuropathy |
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| 22q11.2 deletion syndrome in diverse populations |
|
✓ |
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✓ |
✓ |
African descent (African), Africans, Asian/Asians, Latin American, Caucasians |
| First drug to treat spinal muscular atrophy gets FDA approval |
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| 22q11.2q13 duplication including <i>SOX10</i> causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease |
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| An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment |
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| Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly |
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| Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome |
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| Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia |
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| Maternal uniparental disomy of chromosome 15 and concomitant <i>STRC</i> and <i>CATSPER2</i> deletion‐mediated deafness‐infertility syndrome |
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| DEVELOPMENTAL BIOLOGY, 11TH EDITION 2016 |
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| Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness |
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| Adding value to genetic testing through utilization management: Commercial laboratory's experience |
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| Further evidence for specific <i>IFIH1</i> mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity |
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| Novel pathogenic variants in <i>FOXP3</i> in fetuses with echogenic bowel and skin desquamation identified by ultrasound |
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| Thomas H. Shepard, M.D., pioneer in embryology and teratology |
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| De novo loss‐of‐function variants in <i>STAG2</i> are associated with developmental delay, microcephaly, and congenital anomalies |
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| In Memoriam: Laurence E. Karp (1939–2016) |
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| Refining patterns of joint hypermobility, <i>habitus</i>, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type |
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| The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options |
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| Tissue‐specific mosaicism for a lethal osteogenesis imperfecta <i>COL1A1</i> mutation causes mild OI/EDS overlap syndrome |
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| Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome |
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| Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel <i>TRPS1</i> mutations |
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| Sleep‐disordered breathing and its management in children with achondroplasia |
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| A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy |
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| Table of Contents, Volume 173A, Number 3, March 2017 |
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| The p.R56* mutation in <i>PTHLH</i> causes variable brachydactyly type E |
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| In this issue |
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| 10‐year‐old female with intragenic <i>KANSL1</i> mutation, no <i>KANSL1</i>‐related intellectual disability, and preserved verbal intelligence |
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| Cover Image, Volume 173A, Number 3, March 2017 |
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| Constitutional bone impairment in Noonan syndrome |
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| Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations |
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| The recurrent<i>PPP1CB</i>mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype |
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| Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I |
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| Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18 |
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| Serum alpha‐fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome |
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| 1q21.3 deletion involving <i>GATAD2B</i>: An emerging recurrent microdeletion syndrome |
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| <i>TSC2</i> c.1864C>T variant associated with mild cases of tuberous sclerosis complex |
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| Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations |
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| Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple fami |
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| Early embryonic development detailed in new digital atlas |
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| A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome |
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| Publication schedule for 2017 |
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| Homozygous mutation in <i>PRUNE1</i> in an Oji‐Cree male with a complex neurological phenotype |
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| A de novo <i>SATB2</i> mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay |
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| Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature |
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| De novo 11q deletion including <i>SHANK2</i> in a patient with global developmental delay |
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| First report of factors associated with satisfaction in patients with neurofibromatosis |
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✓ |
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| American college of medical genetics and genomics updates secondary findings guidelines |
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| High prevalence of fatigue in adults with a 22q11.2 deletion syndrome |
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| Foramen magnum compression in Coffin–Lowry syndrome: A case report |
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| A novel de novo germline mutation Glu40Lys in <i>AKT3</i> causes megalencephaly with growth hormone deficiency |
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| Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016 |
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| Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome |
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| Corrigendum to “Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335–2347.” |
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| Spectrum of mutations in the <i>SMPD1</i> gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease |
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| Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys <i>FGFR3</i> mutation |
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| Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features |
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| Novel <i>LINS1</i> missense mutation in a family with non‐syndromic intellectual disability |
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| The society for craniofacial genetics and developmental biology 39th annual meeting |
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| Descriptive study of the complete blood count in newborn infants with Down syndrome |
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| Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by <i>EGP5</i> mutation |
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| Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology |
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| A novel <i>AMPD2</i> mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9 |
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| Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe) |
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| A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy |
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| Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype |
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| The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome |
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| Genetic advances in craniosynostosis |
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| A de novo splice site mutation in <i>CASK</i> causes FG syndrome‐4 and congenital nystagmus |
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| Incidence of Fragile X syndrome in Ireland |
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| Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature |
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| Potocki–Shaffer syndrome in a child without intellectual disability—The role of <i>PHF21A</i> in cognitive function |
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| Molecular and clinical analysis of <i>ALPL</i> in a cohort of patients with suspicion of Hypophosphatasia |
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| Rare familial <i>TSC2</i> gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex |
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| Signs of dysarthria in adults with 22q11.2 deletion syndrome |
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| Additional three patients with Smith‐McCort dysplasia due to novel <i>RAB33B</i> mutations |
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| A predictive model for obstructive sleep apnea and Down syndrome |
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| Missense variant in <i>UBA2</i> associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway |
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| Non‐European populations still underrepresented in genomic testing samples |
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✓ |
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Non-European populations |
| Table of Contents & Publication Schedule, Volume 173A, Number 2, February 2017 |
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| Cover Image, Volume 173A, Number 2, February 2017 |
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| In this issue |
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| Resolving different interpretations of gene variants boosts effective use of test results |
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| <i>CELSR2</i>, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency |
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