Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Stefanie Birnbaum, Kerstin U. Ludwig, Heiko Reutter, +31

Nature Genetics

Cleft LipChromatinDevelopmental BiologyCraniofacial DisorderGenetic Disorder +11

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Elisabeth Mangold, Kerstin U. Ludwig, Stefanie Birnbaum, +35

Nature Genetics

Genome-wide Association StudyNonsyndromic Cleft LipGeneticsGenetic EpidemiologyCleft Lip Repair +7

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, +9

Human Mutation

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Yanqin Yu, Xianbo Zuo, Miao He, +27

Nature Communications

Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic <i>MSH6</i> Germline Mutations Compared With Families With <i>MLH1</i> or <i>MSH2</i> Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium

Jens Plaschke, Christoph Engel, Stefan Krüger, +10

Journal of Clinical Oncology

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

Claudia Günther, Barbara Kind, Martin A.M. Reijns, +42

Journal of Clinical Investigation

Rnase H2 DeficiencyGenome InstabilityAutoimmune DiseaseRnase H2Systemic Lupus Erythematosus Treatment +13

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Johannes Birtel, Tobias Eisenberger, Martin Gliem, +10

Scientific Reports

HNPCC-associated small bowel cancer: Clinical and molecular characteristics

Karsten Schulmann, Frank Brasch, Erdmute Kunstmann, +15

Gastroenterology

Tumor BiologyGastrointestinal OncologyMedicinePathologyMolecular Characteristics +4

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, +44

Nature Genetics

Face DetectionFacial Recognition SystemMedicineBiometricsFacial Phenotype Descriptors +2

<i>MUTYH</i>‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

Stefan Aretz, Siegfried Uhlhaas, Heike Goergens, +7

International Journal of Cancer

Biallelic MutationsGenetic DisorderMedicineGeneticsPathogenesis +9