Am J Med Genet A

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  Publication Venue For

  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. 2021
  • De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. 2021
  • TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death..  185:923-929. 2021
  • Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature..  185:286-299. 2021
  • EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients..  182:2926-2938. 2020
  • A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome..  182:1947-1951. 2020
  • Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II..  182:1832-1845. 2020
  • Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome..  182:1053-1065. 2020
  • HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals..  179:2049-2055. 2019
  • Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study..  179:1846-1856. 2019
  • Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network..  179:958-965. 2019
  • Cornelia de Lange syndrome in diverse populations..  179:150-158. 2019
  • Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study..  179:85-93. 2019
  • Proceedings of the fifth international RASopathies symposium: When development and cancer intersect..  176:2924-2929. 2018
  • Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects..  176:2172-2181. 2018
  • Therapy development in Huntington disease: From current strategies to emerging opportunities..  176:842-861. 2018
  • Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant..  176:692-698. 2018
  • Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient..  176:246-247. 2018
  • 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..  176:253-256. 2018
  • Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review..  173:3058-3066. 2017
  • Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date..  173:3029-3041. 2017
  • Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?.  173:2628-2634. 2017
  • Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study..  173:1539-1545. 2017
  • Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound..  173:1219-1225. 2017
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia..  173:601-610. 2017
  • Detecting celiac disease in patients with Down syndrome..  170:3098-3105. 2016
  • Death from supine asphyxia in late onset pompe disease: Two patients..  170:1928-1929. 2016
  • Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1..  170:1455-1461. 2016
  • Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial..  170:1545-1555. 2016
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy..  170A:77-86. 2016
  • National down syndrome patient database: Insights from the development of a multi-center registry study..  167A:2520-2526. 2015
  • The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach..  167A:1741-1746. 2015
  • Longitudinal polysomnographic findings in infantile Pompe disease..  167A:858-861. 2015
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature..  164A:2879-2886. 2014
  • Polysomnographic findings in infantile Pompe disease..  161A:3196-3200. 2013
  • Timing of diagnosis of patients with Pompe disease: data from the Pompe registry..  161A:2431-2443. 2013
  • Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers..  161A:2105-2107. 2013
  • Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome..  161A:1096-1100. 2013
  • Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus..  161A:605-610. 2013
  • Response to the letter "How to describe the clinical spectrum in Pompe disease?"..  161A:401-402. 2013
  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia..  161A:198-202. 2013
  • Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy..  158A:3190-3195. 2012
  • Sleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients..  158A:2956-2958. 2012
  • Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization..  158A:2152-2161. 2012
  • Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient..  158A:1208-1211. 2012
  • An inherited disorder with splenomegaly, cytopenias, and vision loss..  158A:475-481. 2012
  • Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge..  155A:2186-2195. 2011
  • Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers..  155A:1264-1271. 2011
  • Cantú syndrome: report of nine new cases and expansion of the clinical phenotype..  155A:508-518. 2011
  • Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations..  155A:168-173. 2011
  • Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17..  152A:3028-3035. 2010
  • Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome..  152A:2365-2371. 2010
  • Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae..  152A:1357-1371. 2010
  • Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome..  152A:333-339. 2010
  • Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2..  152A:169-174. 2010
  • Prenatal diagnosis of Down syndrome: how best to deliver the news..  149A:2361-2367. 2009
  • The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome..  149A:1641-1654. 2009
  • When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families..  149A:1190-1199. 2009
  • Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters..  146A:2794-2798. 2008