A5058025908- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Biblical Studies and Interpretation
- Family and Disability Support Research
- Historical and Linguistic Studies
- Cancer-related gene regulation
- RNA modifications and cancer
- Biochemical and Molecular Research
- Historical, Religious, and Philosophical Studies
- Genetic Syndromes and Imprinting
- Congenital Ear and Nasal Anomalies
- Christian Theology and Mission
- Head and Neck Anomalies
- Osteoarthritis Treatment and Mechanisms
- Theology and Philosophy of Evil
- History and Theory of Mathematics
- Archaeology and Historical Studies
- Medieval Philosophy and Theology
- Congenital limb and hand anomalies
- Classical Antiquity Studies
- Tracheal and airway disorders
University of California, San Francisco
2025
Kennedy Krieger Institute
2018-2024
Johns Hopkins Medicine
2018-2024
Johns Hopkins University
2018-2024
John Wiley & Sons (United States)
2021
American Dental Education Association
2021
Harvard University
2021
Saturday Academy
2021
Phillips Exeter Academy
2012
University of Birmingham
2012
Abstract Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized intellectual disability hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical molecular spectrum diverse populations, identify physical features that may be more prevalent White versus Black Indigenous People Color individuals, delineate genotype–phenotype...
The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individuals with rare disorders that involve disrupted epigenetics. Initially centered on classical imprinting disorders, the focus shifted to rapidly emerging group of genetic resulting from pathogenic germline variants in epigenetic machinery genes. These are collectively called Mendelian (MDEMs), or more broadly, Chromatinopathies. In five years, 741 clinic visits have been...
Objectives: Underrepresented minority (URM, comprising Hispanic, non-Hispanic Black, and Native American) children with sensorineural hearing loss have fivefold lower odds of receiving a genetic diagnosis after undergoing gene-panel testing. Using loss-specific American College Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines applied to URM-specific cohort demonstrates the utility these in reducing disparity diagnostic efficacy testing URM populations. Design: A...
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 AKS (26 previously unpublished), including 13 missense variants. We propose new clinical diagnostic criteria for that differentiate it from the clinically overlapping Kabuki describe significant phenotypic expansion to include who present subtle...
Abstract Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in genes encoding chromatin modifiers KMT2D KDM6A are responsible for 1 (KS1) 2 (KS2), respectively. In addition, 11 cases KS1 caused mosaic have been reported literature. Some these individuals display milder craniofacial phenotypes, most do not congenital heart defects. We report case an...
Abstract Background KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in lysine acetyltransferase 6 A ( ) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features disorder, with late-truncating associated more severe form intellectual disability. However, much cognitive phenotype remains elusive given dearth research. Participants methods This study examined non-verbal social...
Abstract This study focused on the development and initial psychometric evaluation of a set online, webcam‐collected, artificial intelligence‐derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing qualitative input was used to develop four stimulus paradigms capturing social cognitive processes, including attention, receptive vocabulary, processing speed, single‐word reading. The were administered sample 375 participants, 163 with NDGS, 56...
Abstract Background Kabuki (Niikawa‐Kuroki) syndrome (KS) is caused by disease‐causing variants in either of two components (KMT2D and KDM6A) the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, most intellectual disability. Recent studies on a mouse model suggest disruption normal adult neurogenesis granule cell layer dentate gyrus hippocampus. These mutant mice also demonstrate hippocampal memory defects compared littermates, but this phenotype...
KAT6A syndrome is a Mendelian Disorder of the Epigenetic Machinery characterized by intellectual disability and profound expressive language impairment. This study aimed to further characterize behavior sleep in this syndrome. 26 participants between ages 3 35 years with were assessed via parental informant using Adaptive Behavior Assessment System version (ABAS-3), Achenbach Child or Adult Checklist (CBCL/ABCL), Modified Simonds Parraga Sleep Questionnaire (MSPSQ). The ABAS reports...
Wiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of the epigenetic machinery caused by heterozygous pathogenic variants in KMT2A. Currently, specific neurocognitive profile this remains unknown. This case series provides insight into cognitive phenotype WSS.This study involves retrospective medical chart review 10 pediatric patients, each with molecularly confirmed diagnosis WSS who underwent clinical neuropsychological evaluation at an academic center.The majority patients...
Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss function variants in either two genes involved regulation histone methylation, KMT2D (34-76%) or KDM6A (9-13%). Previously, representative neurobehavioral deficits KS were recapitulated mouse model, emphasizing role brain development, specifically ongoing hippocampal neurogenesis granule cell layer dentate gyrus. Interestingly, anxiety, phenotype that has known association with decreased...
Abstract Purpose/objective Self‐assessment is a fundamental skill for dentists and other health care providers. It enables these professionals' ability to critically evaluate the quality of their clinical work improve through self‐directed learning. Researchers have investigated how gender affects self‐assessment skills shown that male students tend overestimate performance while female underestimate theirs as compared peer or faculty assessment. The goal this study was dental differ by in...
Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs halluces, characteristic facial features. Pathogenic variants in CREBBP lead to RSTS type 1 (RSTS1) EP300 2 (RSTS2). Individuals with can demonstrate variety behavioral neuropsychiatric challenges, including anxiety, hyperactivity/inattention, self-injury, repetitive behaviors, aggression. Behavioral challenges are consistently reported...
Abstract Objectives Wiedemann–Steiner syndrome (WSS) is a neurogenetic disorder caused by heterozygous variants in KMT2A. Recent investigations suggest increased anxiety and behavior regulation challenges among those with WSS although the neurobehavioral phenotype remains largely unknown. This study aims to examine pattern of associations between executive functioning (EF) WSS. Method involved utilizing caregiver-report inventories (Behavior Rating Inventory Executive Function 2nd Edition,...