Concepedia
Statistics
Publications
17
Citations
1.5K
H-Index
15
Active since
2003
Affiliations
Hospital for Sick Children(Current)
University of Toronto
SickKids Foundation
Mount Sinai Hospital
Children's Hospital of Philadelphia
Maian Roifman is an author at Hospital for Sick Children specializing in medicine, genetics, and molecular genetics.
Top concepts
MedicineGeneticsMolecular GeneticsDevelopmental BiologyPathologyUrologyCardiologyGynecologyHeart FailureMaternal Health
Publications per year
2003–2024
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text
A large data resource of genomic copy number variation across neurodevelopmental disorders
Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan et al. · npj Genomic Medicine · 2019 · 189 citations · Full text
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi et al. · The American Journal of Human Genetics · 2017 · 163 citations · Full text
Developmental Biology, Rac1 Missense Mutations, Genetic Disorder +5
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Daniele Merico, Maian Roifman, Ulrich Braunschweig et al. · Nature Communications · 2015 · 134 citations · Full text
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text
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