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Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephalyRebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, et al.
NPJ Microgravity|December 22, 2022
Rare diseases and space health: optimizing synergies from scientific questions to careMaria Puscas, Gabrielle Martineau, Gurjot Bhella, et al.
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
American Journal of Human Genetics|November 3, 2018
Causative Mutations and Mechanism of Androgenetic Hydatidiform MolesNgoc Minh Phuong Nguyen, Zhao-Jia Ge, Ramesh Reddy, et al.
Nature Communications|April 7, 2016
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine gliomaHamid Nikbakht, Eshini Panditharatna, Leonie G Mikael, et al.
Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylyRhonda E Schnur, Sairah Yousaf, James Liu, et al.
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