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European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
Journal of Medical Genetics|January 20, 2016
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathyJohannes Koch, René G Feichtinger, Peter Freisinger, et al.
Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
Investigational New Drugs|June 6, 2020
Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformaticsYing Zhang, Francesca Garofano, Xiaolong Wu, et al.
American Journal of Medical Genetics. Part A|July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular eventLouiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
NPJ Parkinson'S Disease|June 12, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic backgroundEmadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, et al.
Pediatric Research|July 1, 2017
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Muhammad Umair, Bader Alhaddad, Afzal Rafique, et al.
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