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List of works by Maian Roifman

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

scientific article published on 04 September 2020

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

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