American journal of medical genetics. Part A
Journal
Overview
publication venue for
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FOXP1 mutations cause intellectual disability and a recognizable phenotype.
2013
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5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
2011
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Mutation analysis of B3GALTL in Peters Plus syndrome.
2008
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Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.
2007
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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
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Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
2006
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
2023
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Detection of mosaic variants using genome sequencing in a large pediatric cohort..
191.
2022
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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
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Patient-reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta..
188.
2022
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Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011..
188.
2021
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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3..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
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome..
185.
2021
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Quality of life in adults with achondroplasia in the United States..
185.
2020
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Rubinstein-Taybi syndrome in diverse populations..
182.
2020
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Headaches in hypermobility syndromes: A pain in the neck?.
182.
2020
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Ocular measurements in fetal alcohol spectrum disorders..
182.
2020
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Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning..
182.
2020
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KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations..
182.
2020
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study..
182.
2019
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Blood pressure in adults with short stature skeletal dysplasias..
182.
2019
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Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011..
179.
2019
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Health supervision for people with Bloom syndrome..
176.
2018
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Best practices in peri-operative management of patients with skeletal dysplasias..
173.
2017
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Noonan syndrome in diverse populations..
173.
2017
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22q11.2 deletion syndrome in diverse populations..
173.
2017
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Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements..
170.
2016
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome..
170.
2016
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Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy..
170A.
2015
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7q11.23 Duplication syndrome: Physical characteristics and natural history..
167A.
2015
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A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders..
167A.
2015
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Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy..
164A.
2014
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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome..
164A.
2014
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Neuromotor synapses in Escobar syndrome..
161A.
2013
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Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy..
161A.
2013
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GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection..
161A.
2013
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Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy..
161A.
2012
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks..
158A.
2012
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis..
158A.
2012
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Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2..
158A.
2011
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Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge..
155A.
2011
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Nicolaides-Baraitser syndrome: Delineation of the phenotype..
149A.
2009
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2..
149A.
2009
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Elements of morphology: standard terminology for the head and face..
149A.
2009
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Assessing parental attitudes toward genetic testing for childhood hearing loss: before and after genetic consultation..
143A.
2007
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Parental narratives on genetic testing for children with hearing loss: a qualitative inquiry..
143A.
2007
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Schimke immuno-osseous dysplasia: a cell autonomous disorder?.
140.
2006
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Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida..
119A.
2003
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Progressive osseous heteroplasia in the face of a child..
118A.
2003
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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..
164A.
2014
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Update: PGD and Holt-Oram syndrome..
136.
2005
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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?".
2016
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Letter to the editor: Hidden pituitary gland: implications for assessment.
2013
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The sixth international RASopathies symposium: Precision medicine-From promise to practice.
2019
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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, Texas.
2017
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The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
2017
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Down syndrome in diverse populations.
2017
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A report of three patients with an interstitial deletion of chromosome 15q24.
2005
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