|
| 36384317 | Damaging Mutations in <b><i>AFDN</i></b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate. | Cleft Palate Craniofac J | 2024 |
| 38082334 | De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. | Am J Med Genet A | 2024 |
| 38064009 | Anxiety and dysautonomia symptoms in patients with a Na<sub>V</sub>1.7 mutation and the potential benefits of low-dose short-acting guanfacine. | Clin Auton Res | 2024 |
| 37402574 | Interventional approaches to symptomatic Tarlov cysts: a 15-year institutional experience. | J Neurointerv Surg | 2024 |
| 36002240 | <i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. | J Med Genet | 2023 |
| 37678402 | Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome. | Clin Dysmorphol | 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 |
| 37102306 | Mapping Genetic Susceptibility to Stenosis in the Proximal Airway. | Laryngoscope | 2023 |
| 37462524 | COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. | Hum Mol Genet | 2023 |
| 36869625 | Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands. | Am J Med Genet A | 2023 |
| 36833236 | Exome Sequencing Reveals <i>SLC4A11</i> Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. | Genes (Basel) | 2023 |
| 36710374 | Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. | Am J Med Genet A | 2023 |
| 36672919 | A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. | Genes (Basel) | 2023 |
| 36760094 | Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L. | Am J Med Genet A | 2023 |
| 36728247 | Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis. | Laryngoscope | 2023 |
| 34689653 | Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus. | J Dent Res | 2022 |
| 35384273 | Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1. | Am J Med Genet A | 2022 |
| 35397207 | Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. | Am J Hum Genet | 2022 |
| 36480544 | Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. | PLoS Genet | 2022 |
| 35868801 | LAMA2-related muscular dystrophy mimicking multiple sclerosis. | BMJ Case Rep | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 35170833 | The impact of GeneMatcher on international data sharing and collaboration. | Hum Mutat | 2022 |
| 34748996 | Expansion of the phenotypic and mutational spectrum of Carpenter syndrome. | Eur J Med Genet | 2022 |
| 33381921 | Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome. | Am J Med Genet A | 2021 |
| 33719213 | Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. | Mol Genet Genomic Med | 2021 |
| 33768677 | Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence. | Am J Med Genet A | 2021 |
| 33729517 | Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. | Hum Mol Genet | 2021 |
| 34407837 | PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. | Orphanet J Rare Dis | 2021 |
| 34492150 | Using Online Mendelian Inheritance in Man in low- and middle-income countries. | Am J Med Genet A | 2021 |
| 34756330 | Embryonic lethal genetic variants and chromosomally normal pregnancy loss. | Fertil Steril | 2021 |
| 34478655 | Response to Biesecker et al. | Am J Hum Genet | 2021 |
| 34185153 | IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. | Hum Genet | 2021 |
| 34157943 | Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with <i>RPE65</i>-related leber congenital amaurosis. | Ophthalmic Genet | 2021 |
| 34040189 | UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. | Genet Med | 2021 |
| 33960641 | Next-generation sequencing and the evolution of data sharing. | Am J Med Genet A | 2021 |
| 34209587 | Germline <i>ERBB2</i>/<i>HER2</i> Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms. | Cancers (Basel) | 2021 |
| 33168701 | Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome. | Neurology | 2021 |
| 33368972 | Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. | Am J Med Genet A | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 32369272 | KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. | Am J Med Genet A | 2020 |
| 31994743 | The utility of exome sequencing for fetal pleural effusions. | Prenat Diagn | 2020 |
| 33276377 | Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. | Hum Mol Genet | 2020 |
| 32638197 | Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. | J Clin Immunol | 2020 |
| 32799327 | Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. | Clin Genet | 2020 |
| 32737394 | Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. | J Hum Genet | 2020 |
| 32681043 | Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. | Sci Rep | 2020 |
| 32953227 | Role of telomere shortening in anticipation of inflammatory bowel disease. | World J Gastrointest Pharmacol Ther | 2020 |
| 32420688 | Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. | Am J Med Genet A | 2020 |
| 32144835 | Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. | Am J Med Genet A | 2020 |
| 32302043 | Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. | Am J Med Genet A | 2020 |