|
| 38082334 | De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. | Am J Med Genet A | 2024 |
| 36760094 | Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L. | Am J Med Genet A | 2023 |
| 35856163 | A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease. | Ophthalmic Genet | 2023 |
| 37151362 | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. | JIMD Rep | 2023 |
| 37042943 | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. | Rev Paul Pediatr | 2023 |
| 35170833 | The impact of GeneMatcher on international data sharing and collaboration. | Hum Mutat | 2022 |
| 35605046 | A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. | J Inherit Metab Dis | 2022 |
| 35782604 | A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy. | Mol Genet Metab Rep | 2022 |
| 36480544 | Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. | PLoS Genet | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 34185153 | IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. | Hum Genet | 2021 |
| 34407837 | PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. | Orphanet J Rare Dis | 2021 |
| 34402580 | Victor McKusick and his short course. | Am J Med Genet A | 2021 |
| 34478655 | Response to Biesecker et al. | Am J Hum Genet | 2021 |
| 32144835 | Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. | Am J Med Genet A | 2020 |
| 31994743 | The utility of exome sequencing for fetal pleural effusions. | Prenat Diagn | 2020 |
| 30849325 | 2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski. | Am J Hum Genet | 2019 |
| 29923087 | Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. | JIMD Rep | 2019 |
| 31273585 | Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. | J Assist Reprod Genet | 2019 |
| 29122926 | Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. | J Med Genet | 2018 |
| 29473047 | Familial monophasic acute transverse myelitis due to the pathogenic variant in <i>VPS37A</i>. | Neurol Genet | 2018 |
| 28663758 | LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes. | Front Genet | 2017 |
| 28321190 | Skeletal Dysplasias: Growing Therapy for Growing Bones. | Front Pharmacol | 2017 |
| 29255178 | Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. | Eur J Hum Genet | 2017 |
| 29237760 | Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel. | Sci Transl Med | 2017 |
| 28777491 | Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. | Am J Med Genet A | 2017 |
| 28641744 | Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD. | Eur Neuropsychopharmacol | 2017 |
| 25824302 | Whole-genome association analysis of treatment response in obsessive-compulsive disorder. | Mol Psychiatry | 2016 |
| 26395437 | Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. | Am J Med Genet A | 2016 |
| 27606322 | Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders. | Mol Neuropsychiatry | 2016 |
| 27801893 | The DPYSL2 gene connects mTOR and schizophrenia. | Transl Psychiatry | 2016 |
| 27416908 | A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. | Leukemia | 2016 |
| 27256881 | GENOME ENGINEERING. The Genome Project-Write. | Science | 2016 |
| 27468413 | Lessons learned from the search for genes responsible for rare Mendelian disorders. | Mol Genet Genomic Med | 2016 |
| 27132593 | A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. | Am J Hum Genet | 2016 |
| 26997609 | The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. | Am J Med Genet A | 2016 |
| 24821223 | Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. | Mol Psychiatry | 2015 |
| 26512060 | Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injury. | Hum Mol Genet | 2015 |
| 26528484 | Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia. | Mol Neuropsychiatry | 2015 |
| 26260244 | Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities. | Neurosci Res | 2015 |
| 26173930 | GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. | Hum Mutat | 2015 |
| 26220891 | GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. | Hum Mutat | 2015 |
| 26141114 | Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). | Cardiovasc Pathol | 2015 |
| 26166479 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. | Am J Hum Genet | 2015 |
| 25958742 | New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation. | J Dermatol | 2015 |
| 25684268 | New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. | Hum Mutat | 2015 |
| 25732146 | Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy. | Curr Mol Med | 2015 |
| 25748357 | 2014 Victor A. McKusick Leadership Award. | Am J Hum Genet | 2015 |
| 25569433 | Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. | Genet Med | 2015 |
| 25348816 | An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. | Am J Med Genet A | 2015 |