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American Journal of Human Genetics|June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceDavut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.
Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participantsLincoln Mp Shade, Mohsen Sharifitabar, Alexa Beiser, et al.
Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
Nature Genetics|April 21, 2015
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisLevi B Watkin, Birthe Jessen, Wojciech Wiszniewski, et al.
Cell Reports|January 26, 2016
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT DysregulationMarie-Claude Gingras, Kyle R Covington, David K Chang, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationTadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.
Human Molecular Genetics|May 15, 2024
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortiumMin-Zhi Jiang, Sheila M Gaynor, Xihao Li, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
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