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The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expressionChelsea Lowther, Marsha Speevak, Christine M Armour, et al.
Blood|May 23, 2024
Phase 1 study of CAR-37 T cells in patients with relapsed or refractory CD37+ lymphoid malignanciesMatthew J Frigault, Charlotte E Graham, Trisha R Berger, et al.
Blood|July 14, 2012
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiencyAmel Hassan, Claire Booth, Alex Brightwell, et al.
Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Clinical Immunology (Orlando, Fla.)|September 9, 2023
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patientsNalan Yakici, Alexandra Y Kreins, Mehmet Cihangir Catak, et al.
Nature Genetics|June 12, 2023
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran ProgramDerek Klarin, Poornima Devineni, Anoop K Sendamarai, et al.
Clinical Immunology (Orlando, Fla.)|February 18, 2025
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopeniaZainab M Golwala, Helena Spiridou Goncalves, Ranjita Devi Moirangthem, et al.
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