American Journal of Medical Genetics, Part A
Journal
Overview
publication venue for
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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience
2019
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Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011
2019
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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
2019
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Health supervision for people with Bloom syndrome
2018
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Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.
170:42-51.
2016
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
2016
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Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
167:95-102.
2015
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Autism traits in children and adolescents with Cornelia de Lange syndrome.
164:1400-10.
2014
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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
164:1850-3.
2014
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Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
164:2147-52.
2014
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Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.
164:2769-2774.
2014
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Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
164:1565-70.
2014
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GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
161:779-86.
2013
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Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.
161:687-95.
2013
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Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.
161:70-75.
2013
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Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
158 A:2393-406.
2012
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Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.
155:2647-53.
2011
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GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening.
155:1281-4.
2011
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Further delineation of the Van den Ende-Gupta syndrome.
152 A:3095-3100.
2010
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New subtype of familial intracranial calcification in a mother and two children.
152:943-6.
2010
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Expanding CEP290 mutational spectrumin ciliopathies.
149:2173-80.
2009
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
149:129-37.
2009
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Elements of morphology: Standard terminology for the head and face.
149:6-28.
2009
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Mutation analysis of B3GALTL in Peters Plus syndrome.
146:2603-10.
2008
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A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
143:2761-7.
2007
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Cerebellar atrophy in schimke-immuno-osseous dysplasia.
143:2040-5.
2007
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Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation.
143:1546-53.
2007
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Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry.
143:1533-45.
2007
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
143:939-44.
2007
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DLL3 as a candidate gene for vertebral malformations.
140:2447-53.
2006
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A new case of Grange syndrome without cardiac findings.
140:1316-20.
2006
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Evaluation, of SLC35A3 as a candidate gene for human vertebral malformations [6].
140:1346-8.
2006
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Schimke immuno-osseous dysplasia: A cell autonomous disorder?.
140 A:340-8.
2006
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A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.
133 A:209-12.
2005
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Phenotype and X inactivation in 45,X/46,X,r(X) cases.
128 A:276-84.
2004
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Five Haplotypes Account for Fifty-Five Percent of ATM Mutations in Brazilian Patients with Ataxia Telangiectasia: Seven New Mutations.
126 A:33-40.
2004
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Preimplantation Genetic Diagnosis of Human Congenital Heart Malformation and Holt-Oram Syndrome.
126 A:93-8.
2004
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Mutations in CYP11B1 gene: Phenotype-genotype correlations.
122 A:193-200.
2003
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Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra-familial association study in an eight-generation hyperlipidemic kindred.
121 A:136-40.
2003
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Athabascan brainstem dysgenesis syndrome.
120 A:169-73.
2003
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Progressive osseous heteroplasia in the face of a child.
118 A:71-5.
2003
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Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".
170:1101-3.
2016
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Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy
2015
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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
164:1614-7.
2014
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A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
155:3128-31.
2011
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Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
152:4-24.
2010
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The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.
149:2569-72.
2009
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Update: PGD and Holt-Oram syndrome [4].
136 A:223.
2005
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Molecular characterization of a patient with 3p deletion syndrome and a review of the literature
2008
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Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds
2005
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Neu-Laxova Syndrome: Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review
2004
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