<i>SDH5</i> , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

Huai‐Xiang Hao, Oleh Khalimonchuk, Margit Schraders, +11

Science

Succinate DehydrogenaseGeneticsMolecular BiologyMolecular GeneticsHuman Sdh5 Gene +17

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse, +32

Nature Genetics

Mendelian DisorderGenetic DisorderInherited Metabolic DiseaseGlycobiologyDefective Glycosylation +7

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, +27

European Journal of Human Genetics

BioinformaticsEngineeringGene PanelMedicineGenetics +11

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, +26

The American Journal of Human Genetics

Developmental BiologyGeneticsAudiologyOtorhinolaryngologyAuditory Physiology +8

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, +13

Nature Communications

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

Margit Schraders, Stefan A. Haas, N.J.D. Weegerink, +10

The American Journal of Human Genetics

Identifies MutationsGenetic DisorderProgressive Hearing ImpairmentGeneticsSmall Muscle Protein +6

Lack of Bcl‐2 expression in follicular lymphoma may be caused by mutations in the <i>BCL2</i> gene or by absence of the t(14;18) translocation

Margit Schraders, Daphne de Jong, Philip M. Kluin, +2

The Journal of Pathology

Hematological MalignancyLymphoid NeoplasiaBcl2 GeneAutoimmune DiseaseImmunodeficiencies +13

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

Margit Schraders, Jaap Oostrik, P.L.M. Huygen, +7

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsAudiologyPathology +5

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, +18

The American Journal of Human Genetics

Developmental BiologyGeneticsAudiologyAuditory PhysiologyHearing Disorders +8

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

N.J.D. Weegerink, Margit Schraders, Jaap Oostrik, +11

Journal of the Association for Research in Otolaryngology

Genotype-phenotype CorrelationsFamily MembersGenetic DisorderMedicineGenetics +8