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Elife|August 23, 2015
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationAndrew Kodani, Timothy W Yu, Jeffrey R Johnson, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|November 7, 2024
A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetesRussell Donis, Kashyap A Patel, Matthew N Wakeling, et al.
Diabetes|May 5, 2017
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital CataractsElisa De Franco, Sarah E Flanagan, Takuya Yagi, et al.
Cerebral Cortex (New York, N.Y. : 1991)|January 31, 2016
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social DeficitsAdam W Oaks, Marta Zamarbide, Dimira E Tambunan, et al.
Human Genetics|July 26, 2024
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disordersRebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, et al.
Medrxiv : the Preprint Server for Health Sciences|July 1, 2024
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangementsRebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, et al.
Acta Neuropathologica|July 24, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion diseaseGannon A McDonough, Yuchen Cheng, Katherine S Morillo, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Annals of Neurology|May 4, 2010
Developmental and degenerative features in a complicated spastic paraplegiaM Chiara Manzini, Anna Rajab, Thomas M Maynard, et al.
Frontiers in Immunology|August 8, 2025
Blood samples collected under anesthesia can be used as a source of non-diseased controls for immune-based assaysClara Domingo-Vila, Evangelia D Williams, Megan E Smithmyer, et al.
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