American journal of medical genetics. Part A

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SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa. 2018
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. 2014
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. 2014
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 2014
Hypoglycemia in Kabuki syndrome. 2013
FOXP1 mutations cause intellectual disability and a recognizable phenotype. 2013
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 2011
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 2011
Further delineation of the Van den Ende-Gupta syndrome. 2010
New subtype of familial intracranial calcification in a mother and two children. 2010
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. 2009
Mutation analysis of B3GALTL in Peters Plus syndrome. 2008
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. 2007
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. 2007
Cerebellar atrophy in Schimke-immuno-osseous dysplasia. 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. 2007
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 2007
DLL3 as a candidate gene for vertebral malformations. 2006
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. 2006
A new case of Grange syndrome without cardiac findings. 2006
Costello syndrome and hyperinsulinemic hypoglycemia. 2005
A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. 2005
A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies. 2004
Phenotype and X inactivation in 45,X/46,X,r(X) cases. 2004
A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. 2004
Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. 2004
Mutations in CYP11B1 gene: phenotype-genotype correlations. 2003
Athabascan brainstem dysgenesis syndrome. 2003
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. 2023
Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.. 188. 2022
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011.. 188. 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.. 185. 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.. 185. 2021
Rubinstein-Taybi syndrome in diverse populations.. 182. 2020
Headaches in hypermobility syndromes: A pain in the neck?. 182. 2020
Ocular measurements in fetal alcohol spectrum disorders.. 182. 2020
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.. 182. 2020
Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.. 179. 2019
Health supervision for people with Bloom syndrome.. 176. 2018
Noonan syndrome in diverse populations.. 173. 2017
22q11.2 deletion syndrome in diverse populations.. 173. 2017
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.. 170. 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.. 170. 2016
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.. 170A. 2015
7q11.23 Duplication syndrome: Physical characteristics and natural history.. 167A. 2015
A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.. 167A. 2015
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.. 164A. 2014
Autism traits in children and adolescents with Cornelia de Lange syndrome.. 164A. 2014
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.. 164A. 2014
Neuromotor synapses in Escobar syndrome.. 161A. 2013
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.. 161A. 2013
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.. 161A. 2013
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.. 161A. 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.. 158A. 2012
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.. 158A. 2012
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.. 158A. 2011
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.. 155A. 2011
Nicolaides-Baraitser syndrome: Delineation of the phenotype.. 149A. 2009
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.. 149A. 2009
Elements of morphology: standard terminology for the head and face.. 149A. 2009
Assessing parental attitudes toward genetic testing for childhood hearing loss: before and after genetic consultation.. 143A. 2007
Parental narratives on genetic testing for children with hearing loss: a qualitative inquiry.. 143A. 2007
Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.. 140. 2006
Schimke immuno-osseous dysplasia: a cell autonomous disorder?. 140. 2006
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.. 121A. 2003
Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.. 119A. 2003
Progressive osseous heteroplasia in the face of a child.. 118A. 2003
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. 2018
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. 2014
Update: PGD and Holt-Oram syndrome. 2005
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. 2017
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. 2010
Down syndrome in diverse populations. 2017
Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. 2008
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. 2005
A report of three patients with an interstitial deletion of chromosome 15q24. 2005
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. 2004

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