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American Journal of Human Genetics|April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndromeAnna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
TNF promoter hypomethylation is associated with mucosal inflammation in IBD and anti-TNF responseDaniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
Gastro Hep Advances|September 17, 2024
TNF Promoter Hypomethylation Is Associated With Mucosal Inflammation in IBD and Anti-TNF ResponseDaniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
The Journal of Clinical Investigation|March 2, 2023
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisNafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
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