Karin Weiss
A5050315219- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Congenital heart defects research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Peptidase Inhibition and Analysis
- Cystic Fibrosis Research Advances
- Ubiquitin and proteasome pathways
- Endoplasmic Reticulum Stress and Disease
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Renal Diseases and Glomerulopathies
- RNA and protein synthesis mechanisms
- Neonatal Health and Biochemistry
- Genomics and Chromatin Dynamics
- Neonatal and fetal brain pathology
- Cardiovascular Effects of Exercise
- RNA Research and Splicing
- Chromatin Remodeling and Cancer
- ATP Synthase and ATPases Research
Technion – Israel Institute of Technology
2019-2025
Rambam Health Care Campus
2018-2025
Rady Children's Hospital-San Diego
2021
University of California, San Diego
2021
Northwestern University
2021
GTx (United States)
2021
University of Haifa
2021
National Institutes of Health
2014-2019
National Human Genome Research Institute
2014-2019
Tel Aviv Sourasky Medical Center
2007-2014
National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates.
Abstract An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge manifestations mutational spectrum is lacking. To address this, we performed detailed analysis 42 -related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, reviewed 35 additional previously reported patients. Analysis 77 affected identified 60 unique disease-causing (30...
Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one most common human developmental disorders. Despite decades phenotype-driven research, 80-90% aneuploidy-negative individuals with a probable genetic aetiology do not have diagnosis. Here we report associated variants in two X-linked cohesin complex genes, STAG2 and SMC1A, loss-of-function 10 missense variant one. Additionally, four genes that are X-linked, SMC3 RAD21. Using whole mount situ hybridization, show...
Abstract Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in nine individuals presenting intellectual disability, global developmental delay and a subset of brain anomalies, together gonadal dysgenesis 46,XY individuals. Knockdown Drosophila orthologue reveals conserved role testicular neuronal development. Human induced...
Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype classically characterized upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency dysmorphic features, while ectopic pituitary various congenital anomalies have also been described. Here, we report a family with unique...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a multisystemic autosomal recessive rare disorder. CDS caused by variants in the abhydrolase domain containing 5 (ABHD5) encoding gene ( CGI-58 ), which ultimately leads to excessive lipid storage, and therefore high abundance of cellular droplets (LDs). Although molecular etiology disease was described many years ago, no treatment for currently available. Results To further characterize basis uncover new avenues, we used skin...
Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described females. Here, we describe the clinical and genetic characteristics of largest PILBOS cohort to date, showing that both sexes can exhibit features, although males are overrepresented. A mouse model carrying a human-derived Chd1 missense variant ( R 616 Q /+ ) displays female-restricted phenotypes, including...
Haploinsufficiency of TAB2 was recently implicated as a cause for variety congenital heart defects. Reported cases have genomic deletions 2–10 Mbs including at 6q24–25 are almost always de novo and show variable cardiac extra phenotype. We report on an inherited, 281 kb deletion in three generation family. This is the smallest reported involving that segregates with Three affected individuals this family present myxomatous valves addition to structural defects commonly associated deletions....
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject this condition identified by whole-exome sequencing. Our findings support the association between disorder neonatal cholestasis distinct liver pathology. Furthermore, provide functional data on two novel missense substitutions expand phenotype to include mild...
Several missense mutations in the orphan transporter FLVCR2 have been reported Fowler syndrome. Affected subjects exhibit signs of severe neurological defects. We identified mouse ortholog Mfsd7c as a gene expressed blood-brain barrier. Here, we report characterizations Mfsd7c-KO mice and compare these to phenotypic findings humans with biallelic mutations. Global KO resulted late-gestation lethality, likely due CNS phenotypes. found that angiogenic growth blood vessels brain embryos was...
Abstract TCF7L2 encodes transcription factor 7‐like 2 (OMIM 602228), a key mediator of the evolutionary conserved canonical Wnt signaling pathway. Although several large‐scale sequencing studies have implicated in intellectual disability and autism, both genetic mechanism clinical phenotype remained incompletely characterized. We present here comprehensive phenotypic description 11 individuals who been identified to carry de novo variants , truncating missense. Missense variation is...
PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults HPE explored underlying molecular causes.MethodsParticipants included 20 subjects 15 years age older. Clinical assessments dysmorphology exams, cognitive testing, swallowing studies, ophthalmic examination, brain magnetic resonance imaging. Genetic testing chromosomal microarray, Sanger sequencing for SHH, ZIC2,...