Maian Roifman
A5074618879- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Kruppel-like factors research
- Wnt/β-catenin signaling in development and cancer
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Chromatin Remodeling and Cancer
- Cardiovascular Health and Disease Prevention
- Cancer-related gene regulation
- Birth, Development, and Health
- Medical Imaging and Pathology Studies
- Tracheal and airway disorders
- Genomics and Chromatin Dynamics
- Acute Lymphoblastic Leukemia research
- Renal and related cancers
- Acute Myeloid Leukemia Research
- RNA Research and Splicing
- Assisted Reproductive Technology and Twin Pregnancy
- Cancer Mechanisms and Therapy
- Immune Cell Function and Interaction
University of Toronto
2014-2025
Mount Sinai Hospital
2014-2025
Hospital for Sick Children
2015-2024
SickKids Foundation
2013-2023
Sinai Hospital
2018
Academy of Medical Sciences
1989
Research Institute of Physiology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Medical Sciences
1980
Abstract The standard of care for first-tier clinical investigation the aetiology congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) copy-number variations (CNVs), often followed by gene(s)-specific sequencing searching smaller insertion–deletions (indels) single-nucleotide variant (SNV) mutations. Whole-genome (WGS) has potential to capture all classes genetic variation in one experiment; however, diagnostic yield mutation detection WGS...
Abstract Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted identify etiology among NDDs, but this is the first genome-wide CNV analysis autism spectrum disorder (ASD), attention deficit hyperactivity (ADHD), schizophrenia (SCZ), obsessive-compulsive (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ,...
Abstract Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of patients to reveal compound heterozygous variants that disrupt highly conserved positions the RNU4ATAC small nuclear RNA gene, minor spliceosome component essential for intron splicing. Targeted confirms allele segregation in six cases from four unrelated families. have been recently...
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
Children with Down syndrome have a 150-fold increased risk of developing myeloid leukemia, but the mechanism predisposition is unclear. Because leukemogenesis initiates during fetal development, we characterized cellular and developmental context preleukemic initiation leukemic progression using gene editing in human disomic trisomic hematopoietic cells xenotransplantation. GATA binding protein 1 (GATA1) mutations caused transient preleukemia when introduced into trisomy 21 long-term stem...
Intrauterine growth restriction (IUGR), which refers to reduced fetal in the context of placental insufficiency, is etiologically heterogeneous. IUGR associated not only with perinatal morbidity and mortality but also adult-onset disorders, such as cardiovascular disease diabetes, posing a major health burden. Placental epigenetic dysregulation has been proposed one mechanism that causes IUGR; however, spectrum pathophysiological mechanisms leading remains be elucidated. Monozygotic...
Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal vertebral anomalies. Both autosomal dominant recessive patterns of inheritance have been reported. Since the description (ADRS; OMIM 180700) 1969 Meinhard colleagues, molecular etiology remained elusive until only recently. WNT5A was proposed to be candidate gene for ADRS, as mutations were...
ABSTRACT Objectives To determine the incidence of chromosomal abnormalities, submicroscopic abnormalities and RASopathy‐disorder (RD) pathogenic variants in a cohort pregnancies with nuchal translucency thickness (NT) ≥ 3.5 mm, to propose clinical protocol for surveillance this group patients. Methods This was retrospective chart review patients referred The Prenatal Diagnosis Medical Genetics Program at Mount Sinai Hospital between January 2013 December 2015, due NT who underwent chorionic...
Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in post-natal setting. Recent studies demonstrated utility exome (ES) prenatal diagnosis, we investigate potential benefits GS act fetal abnormalities.We performed on prospective cohort 37 singleton fetuses with ultrasound-identified structural abnormalities undergoing invasive testing. was parallel standard diagnostic testing, and prioritized variants were classified...
Abstract Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams–Oliver syndrome (AOS). The clinical presentation of individuals damaging is characterized by variable expressivity incomplete penetrance; however, data on systematic phenotypic characterization limited. We report the genotype phenotype a cohort 33 (20 females, 13 males; median age 23.4 years, range 2.5–68.3 years) from 11 families causative (9 inherited, 2 de novo; 9 novel),...
Abstract SMARCA4 encodes a central ATPase subunit in the BRG1‐/BRM‐associated factors (BAF) or polybromo‐associated BAF (PBAF) complex humans, which is responsible part for chromatin remodeling and transcriptional regulation. Variants this other genes encoding BAF/PBAF complexes have been implicated Coffin–Siris Syndrome, multiple congenital anomaly syndrome classically characterized by learning developmental differences, coarse facial features, hypertrichosis, underdevelopment of fifth...
Pathogenic heterozygous variants in the NOTCH1 gene are known to be associated with both left and right-sided congenital cardiac anomalies strikingly incomplete penetrance variable phenotypic expressivity. De novo whole deletion has been reported rarely literature its association defects is less well established. Here, we report four cases of from two families a spectrum heart bicuspid aortic valve complex anomalies. This first description familial deletion, showing apparently high...
Abstract Glutamine synthetase (GS) is the enzyme responsible for biosynthesis of glutamine, providing only source endogenous glutamine necessary several critical metabolic and developmental pathways. GS deficiency, caused by pathogenic variants in glutamate‐ammonia ligase ( GLUL) gene, a rare autosomal recessive inborn error metabolism characterized systemic persistent moderate hyperammonemia, clinically devastating seizures multi‐organ failure shortly after birth. The four cases reported...
To evaluate the impact of introduction noninvasive prenatal testing (NIPT) on uptake invasive in pregnancies complicated by fetal central nervous system (CNS) anomalies.Retrospective review all singleton CNS anomalies seen at a single tertiary center between 2010 and 2017. Cases who had undergone or NIPT prior to diagnosis anomaly were excluded. segregated according whether they (group A, 2010-2013) thereafter B, 2014-2017). We examined rate genetic each group.We retrieved 500 cases: 308...
Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand characterized by variable limb defects, congenital heart and cardiac conduction defects. HOS caused variants in TBX5, transcription factor involved development. Most reported pathogenic are single nucleotide exons, splicing variants, or deletions resulting null allele haploinsufficiency. Here we report case of an intragenic duplication TBX5 associated with fetal ultrasound findings consistent family ascertained prenatally. The...
Autosomal recessive ROR2-Robinow syndrome is caused by pathogenic variants in the ROR2 gene. Fetal ultrasound done on our patient at 24 + 3/7 weeks gestation showed macrocephaly, brachycephaly, flat face, prominent forehead, mild frontal bossing, lower thoracic hemivertebrae, digital abnormalities and micropenis. trio whole exome sequencing amniocytes two compound heterozygous gene, c.1324 C > T; p.(Arg442*) maternally inherited c.1366dup; p.(Leu456Profs*3) apparently de novo. a nonsense...