A5077170349- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Cardiac electrophysiology and arrhythmias
- Congenital heart defects research
- Cardiovascular Effects of Exercise
- Metabolism and Genetic Disorders
- Reproductive Biology and Fertility
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Congenital Heart Disease Studies
- Ovarian function and disorders
- Protein Hydrolysis and Bioactive Peptides
- Calcium signaling and nucleotide metabolism
- Hormonal and reproductive studies
- Prenatal Screening and Diagnostics
- Epilepsy research and treatment
- Protease and Inhibitor Mechanisms
- Connective tissue disorders research
- RNA and protein synthesis mechanisms
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Cardiac pacing and defibrillation studies
- Clinical Nutrition and Gastroenterology
- RNA Interference and Gene Delivery
- Cardiac Arrhythmias and Treatments
- Lysosomal Storage Disorders Research
Alfred I. duPont Hospital for Children
2014-2021
DuPont (United States)
2021
Brown University
2016
University of Pennsylvania
2013
Children's Hospital of Philadelphia
2008-2013
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily immune nervous systems. germline variants have been associated variety developmental syndromes. However, genotype-phenotype correlations along pathophysiologic mechanisms selected mostly remain elusive. To dissect these, we performed 92 affected individuals harboring pathogenic or likely variant, followed by...
Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching for this particular while recognizing the rapidly changing landscape of knowledge within domain. was developed with consensus from a diverse group certified counselors utilizing literature relevant CHD and aimed at supporting who encounter in their both pre- postnatally.
<h3>Importance</h3> The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death. <h3>Objective</h3> To investigate the underlying cause of multiple deaths in young individuals and cardiac arrests that occurred 2 large Amish families. <h3>Design, Setting, Participants</h3> Two extended families with were included study. A recessive inheritance pattern was suggested based on an family history arrests, despite unaffected parents. exercise-associated occurring 4...
We identified a potentially novel homozygous duplication involving the promoter region and exons 1-4 of gene encoding type 2 cardiac ryanodine receptor (RYR2) that is responsible for highly penetrant, exertion-related sudden deaths/cardiac arrests in Amish community without an overt phenotype to suggest RYR2-mediated catecholaminergic polymorphic ventricular tachycardia (CPVT). Homozygous RYR2 (RYR2-DUP) induced pluripotent stem cell cardiomyocytes (iPSC-CMs) were generated from unrelated...
Methionine adenosyltransferase I/III (MATI/III) deficiency is the most common genetic cause of persistent isolated hypermethioninemia. Patients and Methods : This a retrospective data analysis 62 newborns with elevated methionine detected by newborn screening between January 2000 June 2013. The clinical, biochemical, molecular findings subset these children MAT1A mutations associated MATI/III are presented.Of methionine, 12 were identified as having classical homocystinuria; 37...
Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified novel mutation in patient with hypoplastic left heart (HLHS) who developed progressive requiring surgical replacement the neoaortic root, ascending aorta, proximal arch. Family screening for revealed that his father, has vascular skeletal features AOS, brother, asymptomatic, also have pathogenic mutation....
PBX1 encodes the pre-B cell leukemia homeobox transcription factor, a three amino acid loop extension (TALE) homeodomain which forms nuclear complexes with other TALE class proteins that ultimately regulate target genes controlling organ patterning during embryogenesis. Heterozygous de novo pathogenic variants in resulting haploinsufficiency are associated congenital anomalies of kidneys and urinary tract, most commonly renal hypoplasia, as well involving external ear, branchial arch, heart,...