American journal of medical genetics. Part A

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A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy. 2024
FOXP1 mutations cause intellectual disability and a recognizable phenotype. 2013
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 2011
Mutation analysis of B3GALTL in Peters Plus syndrome. 2008
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. 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
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. 2006
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. 2023
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.. 191. 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
Patient-reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta.. 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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.. 185. 2021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
Quality of life in adults with achondroplasia in the United States.. 185. 2020
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
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.. 182. 2020
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.. 182. 2019
Blood pressure in adults with short stature skeletal dysplasias.. 182. 2019
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
Best practices in peri-operative management of patients with skeletal dysplasias.. 173. 2017
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
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
Schimke immuno-osseous dysplasia: a cell autonomous disorder?. 140. 2006
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
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.. 164A. 2014
Update: PGD and Holt-Oram syndrome.. 136. 2005
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
Letter to the editor: Hidden pituitary gland: implications for assessment. 2013
The sixth international RASopathies symposium: Precision medicine-From promise to practice. 2019
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
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. 2017
Down syndrome in diverse populations. 2017
A report of three patients with an interstitial deletion of chromosome 15q24. 2005

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