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Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
Cell|November 20, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variantsRuizhi Deng, Elena Perenthaler, Anita Nikoncuk, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|November 10, 2023
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitisKatharina Eiseler, Lea Neppl, Andreas W Schmidt, et al.
Neurology. Genetics|July 3, 2026
Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson SyndromeTzung-Chien Hsieh, Dylan Todd, Taylor Warner, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.
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