Chaim M Roifman

Dr. Chaim M Roifman


Research Focus & Metrics

Academic Career Length

36Years (1991-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 February 2006 in JAMA
Verified
Journal Article
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EGEyal Grunebaum
Eyal Grunebaum
EMEvelina Mazzolari
Evelina Mazzolari
FPFulvio Porta
Fulvio Porta
DDDaniela Dallera
Daniela Dallera
AAAdelle Atkinson
Adelle Atkinson
CRChaim M Roifman
Chaim M Roifman
Severe combined immune deficiency (SCID) is a heterogeneous group of inherited diseases with an estimated frequency of 1 in 50 000 to 100 000 live births.1 It is characterized by significant impaired immunity leading to death in infancy unless treated by hematopoietic stem cell transplantation. The optimal treatment for most patients with SCID is bone marrow transplantation (BMT) from a related, HLA-identical donor (RID).2 Unfortunately, such donors are found for only a minority of patients with SCID.3,4

2 November 2015 in Nature Communications
Verified
Journal Article
Open access
PDF file
DMDaniele Merico
Daniele Merico
MRMaian Roifman
Maian Roifman
UBUlrich Braunschweig
Ulrich Braunschweig
RYRyan K. C. Yuen
Ryan K. C. Yuen
RARoumiana Alexandrova
Roumiana Alexandrova
SSStephan Scherer
Stephan Scherer
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 Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families. RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome. Strikingly, all six of the Roifman Syndrome cases have one variant that overlaps MOPD1-implicated structural elements, while the other variant overlaps a highly conserved structural element not previously implicated in disease. RNA-seq analysis confirms extensive and specific defects of minor intron splicing. Available allele frequency data suggest that recessive genetic disorders caused by RNU4ATAC rare variants may be more prevalent than previously reported.

1 July 2012 in Journal of Allergy and Clinical Immunology
Verified
Journal Article
Closed access
CRChaim M Roifman
Chaim M Roifman
RSRaz Somech
Raz Somech
FKFotini Kavadas
Fotini Kavadas
LPLinda Pires
Linda Pires
ANAmit Nahum
Amit Nahum
EGEyal Grunebaum
Eyal Grunebaum

1 May 2018 in Journal of Allergy and Clinical Immunology
Verified
Journal Article
Closed access
HDHarjit Dadi
Harjit Dadi
TJTyler A. Jones
Tyler A. Jones
DMDaniele Merico
Daniele Merico
NSNigel Sharfe
Nigel Sharfe
AOAdi Ovadia
Adi Ovadia
CRChaim M Roifman
Chaim M Roifman

1 April 2006 in Journal of Allergy and Clinical Immunology
Verified
Journal Article
Closed access
CRChaim M Roifman
Chaim M Roifman
YGYiping Gu
Yiping Gu
ACAmos Cohen
Amos Cohen

1 December 2015 in Journal of Autoimmunity
Verified
Journal Article
Closed access
NSNigel Sharfe
Nigel Sharfe
DMDaniele Merico
Daniele Merico
AKAriana Karanxha
Ariana Karanxha
CMCarly Macdonald
Carly Macdonald
HDHarjit Dadi
Harjit Dadi
CRChaim M Roifman
Chaim M Roifman