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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variantRaphael Bernier, Kyle J Steinman, Beau Reilly, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 18, 2007
Noggin inhibits postoperative resynostosis in craniosynostotic rabbitsGregory M Cooper, Chris Curry, Timothy E Barbano, et al.Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 10, 2016
Rescue of Premature Coronal Suture Fusion with TGF-β2 Neutralizing Antibody in Rabbits with Delayed-Onset SynostosisMark P Mooney, Jocelyn M Shand, Anne Burrows, et al.The Journal of Craniofacial Surgery|April 7, 2007
Postoperative anti-Tgf-beta2 antibody therapy improves intracranial volume and craniofacial growth in craniosynostotic rabbitsMark P Mooney, H Wolfgang Losken, Amr M Moursi, et al.American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.Pageof 38