|
| 37434556 | 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature. | Am J Med Genet A | 2023 |
| 37386468 | Significant improvement of psychotic symptoms in treatment-resistant schizophrenia with clozapine in an adolescent with SHINE syndrome: a case report. | BMC Psychiatry | 2023 |
| 35253644 | Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG). | Genet Med | 2022 |
| 34314705 | TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Am J Hum Genet | 2021 |
| 33569883 | A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation. | Am J Med Genet A | 2021 |
| 33774578 | Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature. | Clin Imaging | 2021 |
| 34790866 | <i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. | Neurol Genet | 2021 |
| 34446925 | Expanded phenotype of AARS1-related white matter disease. | Genet Med | 2021 |
| 33980485 | Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. | Sci Adv | 2021 |
| 32516855 | An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. | Hum Mutat | 2020 |
| 33268356 | Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients. | Sci Adv | 2020 |
| 31019990 | Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. | Ann Clin Transl Neurol | 2019 |
| 30905399 | De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. | Am J Hum Genet | 2019 |
| 28661489 | FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. | Genet Med | 2018 |
| 30055086 | De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. | Am J Med Genet A | 2018 |
| 27667302 | WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. | Hum Mutat | 2017 |
| 28168676 | Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. | J Autism Dev Disord | 2017 |
| 28346496 | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. | PLoS Genet | 2017 |
| 27853923 | The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. | J Autism Dev Disord | 2017 |
| 26060304 | Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. | J Child Neurol | 2016 |
| 28070495 | An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. | Mol Genet Metab Rep | 2016 |
| 27502353 | Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. | Epileptic Disord | 2016 |
| 27108799 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | Am J Hum Genet | 2016 |
| 26535115 | Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. | F1000Res | 2015 |
| 26297936 | Chronic pain in Noonan Syndrome: A previously unreported but common symptom. | Am J Med Genet A | 2015 |
| 22351889 | Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children. | Pediatrics | 2012 |
| 21379579 | Autism and increased paternal age related changes in global levels of gene expression regulation. | PLoS One | 2011 |
| 21925314 | Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. | Cell | 2011 |
| 20186804 | 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. | Am J Med Genet A | 2010 |
| 19920235 | Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. | JAMA | 2009 |
| 18495510 | The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. | Mol Genet Metab | 2008 |
| 19029900 | Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. | Nat Genet | 2008 |
| 17172942 | Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. | Genet Med | 2006 |
| 15690370 | Further delineation of Kabuki syndrome in 48 well-defined new individuals. | Am J Med Genet A | 2005 |
| 12690205 | Human chromosome 7: DNA sequence and biology. | Science | 2003 |
| 11829489 | Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. | Genomics | 2002 |
| 11685205 | A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. | Nat Genet | 2001 |
| 11078563 | Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. | Am J Med Genet | 2000 |
| 10529389 | Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency. | Biochem Biophys Res Commun | 1999 |
| 9311744 | Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. | Am J Hum Genet | 1997 |
| 9217215 | Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. | Am J Med Genet | 1997 |
| 9192261 | Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. | J Med Genet | 1997 |
| 8659538 | A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al. | Am J Hum Genet | 1996 |
| 8958318 | Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity? | Am J Med Genet | 1996 |
| 8950676 | Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. | J Med Genet | 1996 |
| 7509564 | Genetic analysis of Hispanic individuals with cystic fibrosis. | Am J Hum Genet | 1994 |
| 7527370 | Complete detection of mutations in cystic fibrosis patients of Native American origin. | Hum Genet | 1994 |
| 8368247 | Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. | Am J Med Genet | 1993 |
| 1384321 | Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. | Am J Hum Genet | 1992 |
| 1519644 | 7p deletion syndrome: an adult with mild manifestations. | Am J Med Genet | 1992 |