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Paper Details

Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
0
2023
Author NameAffiliation
Morad AnsariWestern General Hospital
Morad AnsariInstitute of Genetics and Cancer, University of Edinburgh
Morad Ansari
Helen V FirthClinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Ian D KrantzChildren's Hospital of Philadelphia
Moriel Singer-BerkThe Broad Institute of MIT and Harvard
Saskia Biskup
Saskia BiskupCenter for Genomics and Transcriptomics (CeGaT)
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaThe Broad Institute of MIT and Harvard
Anne O'Donnell-LuriaCenter for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaCenter for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-LuriaThe Broad Institute of MIT and Harvard
Siddharth BankaManchester University
Donald F ConradOregon National Primate Research Center, Oregon Health and Science University
Donald F ConradCenter for Embryonic Cell and Gene Therapy, Oregon Health and Science University
David R FitzPatrickInstitute of Genetics and Cancer, University of Edinburgh
David R FitzPatrick
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