Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, +22

Science Translational Medicine

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

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, +89

Genetics in Medicine

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech, +53

Genetics in Medicine

VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, +11

Nucleic Acids Research

GeneticsMolecular GeneticsGenomicsGenetic AnalysisBiostatistics +16

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, +35

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologyGenetic DisorderNeurology +6

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Sharissa L. Latham, Nadja Ehmke, P. Reinke, +24

Nature Communications

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, +29

The American Journal of Human Genetics

Mendelian DisorderMitochondrial DysfunctionGenetic DisorderGeneticsInherited Metabolic Disease +8

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, +42

Human Genetics

ChannelopathiesGenetic VariantsGenetic DisorderGeneticsMolecular Biology +6

Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, +17

Arthritis & Rheumatology