|
| 37705207 | Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. | Am J Med Genet A | 2024 |
| 35246606 | Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition. | Pediatr Res | 2023 |
| 36148638 | A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual. | Mol Genet Genomic Med | 2023 |
| 37572794 | Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes. | J Hepatol | 2023 |
| 37626566 | Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient. | Brain Sci | 2023 |
| 37550488 | Insights Image for "Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition". | Pediatr Res | 2023 |
| 37154160 | Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. | JCI Insight | 2023 |
| 37264205 | Genomic profiling informs diagnoses and treatment in vascular anomalies. | Nat Med | 2023 |
| 37194624 | Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly. | | 2023 |
| 36751037 | A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. | Am J Med Genet A | 2023 |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. | Nat Commun | 2023 |
| 36610046 | Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. | Am J Med Genet A | 2023 |
| 36919775 | Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review. | | 2023 |
| 36916904 | Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome. | | 2023 |
| 34751387 | Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report. | Journal of Clinical Endocrinology and Metabolism | 2022 |
| 35654890 | Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. | Eur J Hum Genet | 2022 |
| 36083290 | Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. | Genet Med | 2022 |
| 35935362 | The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing. | Frontiers in Pediatrics | 2022 |
| 35932041 | Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. | Mol Cytogenet | 2022 |
| 35860725 | Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>. | HGG Adv | 2022 |
| 35606495 | Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. | Eur J Hum Genet | 2022 |
| 36408368 | A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | HGG Adv | 2022 |
| 35469323 | Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | HGG Adv | 2022 |
| 36583168 | Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | HGG Adv | 2022 |
| 35300924 | Expanding the phenotypic spectrum of ARCN1-related syndrome. | Genet Med | 2022 |
| 35253988 | Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability. | Am J Med Genet A | 2022 |
| 35265567 | Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by Variant and Mitochondrial Gene Variant. | Frontiers in Pediatrics | 2022 |
| 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. | Genet Med | 2022 |
| 34906466 | Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. | Genet Med | 2022 |
| 35189041 | A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. | Mol Genet Genomic Med | 2022 |
| 35165722 | Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism. | Journal of Clinical Endocrinology and Metabolism | 2022 |
| 34881817 | Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. | Am J Med Genet A | 2022 |
| 35072799 | Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. | Human Genetics | 2022 |
| 35223715 | Complicated Hereditary Spastic Paraplegia Caused by Variants in a Chinese Family. | Frontiers in Pediatrics | 2021 |
| 32064741 | Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. | Addict Biol | 2021 |
| 33811546 | Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. | Hum Genet | 2021 |
| 34291880 | Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. | Am J Med Genet A | 2021 |
| 33960657 | A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. | Am J Med Genet A | 2021 |
| 33743206 | A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. | Am J Hum Genet | 2021 |
| 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | J Inherit Metab Dis | 2021 |
| 34157100 | High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects. | Journal of Clinical Endocrinology and Metabolism | 2021 |
| 33783954 | Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. | Am J Med Genet A | 2021 |
| 33671795 | Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry. | Genes (Basel) | 2021 |
| 33980485 | Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. | Sci Adv | 2021 |
| 33597246 | The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleep. | Sci Adv | 2021 |
| 33547761 | A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. | Am J Med Genet A | 2021 |
| 33369054 | Ciliopathies: Coloring outside of the lines. | Am J Med Genet A | 2021 |
| 32925199 | Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features. | Clin Dysmorphol | 2021 |
| 33244166 | De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. | Genet Med | 2021 |
| 33433009 | Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. | Clin Genet | 2021 |