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Blood|March 3, 2005
Copper-dependent activation of hypoxia-inducible factor (HIF)-1: implications for ceruloplasmin regulationFalk Martin, Tobias Linden, Dörthe M Katschinski, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyLuisa Averdunk, Karin Konzett, Hanna Mandel, et al.
Iscience|August 12, 2025
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescueMelanie J Ludlow, Oleksandr V Povstyan, Deborah M Linley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
The New England Journal of Medicine|June 21, 2023
Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencyJana Block, Christina Rashkova, Irinka Castanon, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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