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HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.Blood|July 11, 2024
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predispositionJiarna R Zerella, Claire C Homan, Peer Arts, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|May 4, 2021
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing SurveillanceCarol Durno, Ayse Bahar Ercan, Vanessa Bianchi, et al.The Lancet. Oncology|March 29, 2024
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort studyAyse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, et al.Pageof 6