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Human Mutation|June 30, 2020
General population ZBTB18 missense variants influence DNA binding and transcriptional regulationIsabel A Hemming, Steven Blake, Mark Agostino, et al.
Human Mutation|January 24, 2015
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotypeFrancesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, et al.
Human Mutation|June 26, 2014
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrixBenjamin Nota, Joseph D T Ndika, Jiddeke M van de Kamp, et al.
Human Mutation|July 28, 2012
Joint analysis of SNPs and proteins identifies regulatory IL18 gene variations decreasing the chance of spastic cerebral palsyMads Vilhelm Hollegaard, Kristin Skogstrand, Poul Thorsen, et al.
Human Mutation|July 11, 2012
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunitiesFlorian Mittag, Finja Büchel, Mohamad Saad, et al.
Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Human Mutation|February 10, 2015
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory ElementAndrea Dal Mas, Paola Fortugno, Irving Donadon, et al.
Human Mutation|February 24, 2015
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domainDésirée von Alpen, Hoai Viet Tran, Nicolas Guex, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Human Mutation|July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocationJesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
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