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| 37743782 | De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. | | 2023 |
| 36385166 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. | Mol Psychiatry | 2023 |
| 35620252 | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. | | 2022 |
| 33783954 | Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. | Am J Med Genet A | 2021 |
| 32737176 | Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula. | NeoReviews | 2020 |
| 32196822 | Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. | Hum Mutat | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 31723249 | De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. | Genet Med | 2020 |
| 32047287 | Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. | Genet Med | 2020 |
| 33150406 | KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Brain | 2020 |
| 33363922 | Case report: Novel phenotype in central 22q11.2 deletion syndrome. | Clinical Case Reports (discontinued) | 2020 |
| 33088508 | Lisch nodules and iris mammillations in two siblings with familial legius syndrome. | Clinical Case Reports (discontinued) | 2020 |
| 33235745 | A case series of a mother and two daughters with a gene deletion demonstrating variable expressivity and incomplete penetrance. | Clinical Case Reports (discontinued) | 2020 |
| 31006512 | Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. | Am J Hum Genet | 2019 |
| 31672938 | NK cell defects in X-linked pigmentary reticulate disorder. | JCI insight | 2019 |
| 31538609 | Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report. | Journal of Clinical Sleep Medicine | 2019 |
| 27550844 | De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. | Mol Psychiatry | 2018 |
| 28661489 | FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. | Genet Med | 2018 |
| 30455893 | Youngest presenting patient with dystonia 24 and review of the literature. | Clinical Case Reports (discontinued) | 2018 |
| 30344821 | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis. | Journal of Clinical Medicine Research | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 29375847 | Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature. | Clinical Case Reports (discontinued) | 2018 |
| 28394407 | Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature. | American Journal of Medical Genetics, Part A | 2017 |
| 28462982 | Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. | American Journal of Medical Genetics, Part A | 2017 |
| 28588837 | Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. | Clinical Case Reports (discontinued) | 2017 |
| 27545680 | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | Am J Hum Genet | 2016 |
| 29443126 | Tuberous sclerosis complex: Five new things. | Neurology: Clinical Practice | 2016 |
| 27112432 | Three cases of Troyer syndrome in two families of Filipino descent. | American Journal of Medical Genetics, Part A | 2016 |
| 27099743 | Rare case of live born with confirmed mosaic trisomy 17 and review of the literature. | Clinical Case Reports (discontinued) | 2016 |
| 27222873 | Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. | JAAD Case Reports | 2016 |
| 27177193 | Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. | American Journal of Medical Genetics, Part A | 2016 |
| 26697951 | FTO variant associated with malformation syndrome. | Am J Med Genet A | 2016 |
| 26238514 | Mutations in ARID2 are associated with intellectual disabilities. | Neurogenetics | 2015 |
| 25735893 | Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay. | American Journal of Medical Genetics, Part A | 2015 |
| 25516398 | Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. | Pediatric Dermatology | 2015 |
| 25758335 | Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. | American Journal of Medical Genetics, Part A | 2015 |
| 25998219 | New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). | Fetal Diagn Ther | 2015 |
| 24831815 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. | PLoS Genetics | 2014 |
| 25003006 | Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. | Rare Dis | 2013 |
| 21595001 | Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. | American Journal of Medical Genetics, Part A | 2011 |