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Frontiers in Cell and Developmental Biology|February 15, 2021
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-FactorRinse W Barendsen, Inge M E Dijkstra, Wouter F Visser, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|November 15, 2017
Adverse birth outcomes associated with Zika virus exposure during pregnancy in São José do Rio Preto, BrazilM L Nogueira, N R R Nery Júnior, C F Estofolete, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Nature|September 3, 2025
Genetic suppression features ABHD18 as a Barth syndrome therapeutic targetSanna N Masud, Anchal Srivastava, Patricia Mero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.
Journal of Neurological Surgery. Part B, Skull Base|July 5, 2023
International Multicenter Study of Clinical Outcomes of Sinonasal Melanoma Shows Survival Benefit for Patients Treated with Immune Checkpoint Inhibitors and Potential Improvements to the Current TNM Staging SystemMatt Lechner, Yoko Takahashi, Mario Turri-Zanoni, et al.
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