A5011667471- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Cellular transport and secretion
- Trypanosoma species research and implications
- RNA modifications and cancer
- Biomedical Text Mining and Ontologies
- Folate and B Vitamins Research
- Glycogen Storage Diseases and Myoclonus
- Bone and Dental Protein Studies
- Porphyrin Metabolism and Disorders
- Biochemical and Molecular Research
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Autophagy in Disease and Therapy
- Electrochemical Analysis and Applications
- Cytomegalovirus and herpesvirus research
- Iron Metabolism and Disorders
- Sphingolipid Metabolism and Signaling
- Pancreatitis Pathology and Treatment
- Genetic Syndromes and Imprinting
- Blood groups and transfusion
Invitae (United States)
2023-2024
Boston Children's Hospital
2015-2023
Harvard University
2016-2023
Dr. John T. Macdonald Foundation
2014-2015
University of Miami
2012-2014
Paracelsus Medical University
2009-2011
Universitätsklinik für Kinder und Jugendpsychiatrie
2011
Semmelweis University
2009
Medical University of Vienna
2009
Hospital for Special Surgery
1996
Abstract Although manganese is an essential trace metal, little known about its transport and homeostatic regulation. Here we have identified a cohort of patients with novel autosomal recessive transporter defect caused by mutations in SLC39A14. Excessive accumulation these results rapidly progressive childhood-onset parkinsonism–dystonia distinctive brain magnetic resonance imaging appearances neurodegenerative features on post-mortem examination. We show that SLC39A14 impair vitro lead to...
<h3>Background</h3> Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% cases. The identification novel associated with has become increasingly challenging, since they might be responsible very small fractions <h3>Methods</h3> A cohort 50 Brazilian probands negative was tested through whole-exome sequencing along...
KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy paroxysmal dyskinesia. Here, we genetically functionally characterize eight novel loss-of-function (LoF) KCNMA1. Genome or exome sequencing participation international Matchmaker Exchange effort allowed for identification variants. Patch clamping was used to assess...
To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships.
Abstract Kabuki syndrome (KS) is a rare, multisystem disorder with variable clinical phenotype. The majority of KS caused by dominant loss-of-function mutations in KMT2D (lysine methyltransferase 2D). mediates chromatin accessibility adding methyl groups to lysine residue 4 histone 3, which plays critical role cell differentiation and homeostasis. molecular underpinnings remain elusive partly because lack modification data from human samples. Consequently, we profiled characterized...
Kabuki Syndrome (KS) is a rare multisystem disorder with variable clinical phenotype. The majority of KS cases are caused by dominant loss-of-function mutations in two genes, KMT2D (lysine methyltransferase 2D, KS1) and KDM6A demethylase 6A, KS2). Both play critical role chromatin accessibility, which essential for developmental processes differentiation. In previous study, we reported that could lead to increased enhancer activity genes related metabolomic pathways KS1. Early detection...
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female with Fabry Disease (FD). This study tested whether lyso-Gb3 could analyzed dried blood spots (DBS) from filter cards concentrations are newborn infants FD. Lyso-Gb3 were DBS following extraction using a novel HPLC-mass spectrometry (MS)/MS method. levels above the lower limit quantitation (0.28 ng/mL) 5/17 FD (16 males; range: 1.02-8.81 ng/mL), but none...
Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male infant with hydrops, pancytopenia, acute liver failure who was listed for transplantation. Given the acuity of presentation, procedure-related morbidity mortality, lack rWES proband both parents turnaround time 10 business days. returned one maternally inherited, likely pathogenic paternally variant NPC1 , suggestive diagnosis...
Abstract Raine syndrome is a rare, autosomal recessive, osteosclerotic bone dysplasia due to pathogenic variants in FAM20C . The clinical phenotype characterized by generalized osteosclerosis affecting all bones, cerebral calcifications, and craniofacial dysmorphism. Most cases present during the neonatal period with early lethality pulmonary hypoplasia respiratory compromise while only few affected individuals have been reported survive into adulthood. ubiquitously expressed protein kinase...
Kabuki syndrome (KS) is a rare genetic disorder caused primarily by mutations in the histone modifier genes KMT2D and KDM6A. The have broad temporal spatial expression many organs, resulting complex phenotypes observed KS patients. Hypotonia one of clinical presentations associated with KS, yet detailed examination skeletal muscle samples from patients has not been reported. We studied consequences loss function both mouse human muscles. In mice, heterozygous Kmt2d resulted reduced...
Primordial growth failure has been linked to defects in the biology of cell division and replication. The complex processes involved microtubule spindle formation, organization function have emerged as a dominant patho-mechanism these conditions. majority reported disease genes encode for centrosome centriole proteins, leaving kinetochore proteins by which apparatus interacts with chromosomes largely unaccounted for. We report novel gene encoding constitutive inner member CENPT, is targeting...
Abstract Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A , genes encoding lysine‐specific methyltransferase demethylase, respectively. The phenotype highly variable, including congenital cardiac and renal anomalies, developmental delay, hypotonia, failure thrive, short stature, immune dysfunction. All affected individuals have characteristic facial features. As KS natural history has not been fully delineated, limited information...
Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with complex phenotype that includes cranio-facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac renal anomalies. Heterozygous, de novo dominant mutations in either KMT2D or KDM6A underlie KS. Limited information available about the phenotypic spectrum KS China. Fourteen Chinese patients genetically confirmed were evaluated addition 11 who identified from medical literature....
There is a need to identify early disease markers facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with severity was investigated in 609 patients enrolled the Outcome Survey (HOS). This analysis indicated that not an marker MPS associated severity. It remains important investigate utility other factors for early/pre-symptomatic diagnosis.