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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Cell Reports. Medicine|January 9, 2026
ΔNp73 isoform defines a TP53-mutant-like poor-risk subgroup of acute myeloid leukemiaDiego A Pereira-Martins, Cesar Ortiz, Isabel Weinhäuser, et al.
JCI Insight|July 27, 2018
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein traffickingYuji Kondo, Jianxin Fu, Hua Wang, et al.
Annals of Clinical and Translational Neurology|September 12, 2019
Dominant collagen XII mutations cause a distal myopathyPayam Mohassel, Teerin Liewluck, Ying Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
Nature Communications|November 7, 2022
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51Anne Margriet Heijink, Colin Stok, David Porubsky, et al.
F1000Research|June 23, 2020
A community proposal to integrate structural bioinformatics activities in ELIXIR (3D-Bioinfo Community)Christine Orengo, Sameer Velankar, Shoshana Wodak, et al.
Human Brain Mapping|January 22, 2019
Pregnancy and adolescence entail similar neuroanatomical adaptations: A comparative analysis of cerebral morphometric changesSusanna Carmona, Magdalena Martínez-García, María Paternina-Die, et al.
American Journal of Human Genetics|December 2, 2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal DysfunctionJulia Wang, Justine Rousseau, Emily Kim, et al.
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