Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

Timothy R. Rebbeck, Nandita Mitra, Fei Wan, +251

JAMA

The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Cornelis M. van Tilburg, Elke Pfaff, Kristian W. Pajtler, +70

Cancer Discovery

Prevalence of <i>BRCA1/2</i> germline mutations in 21 401 families with breast and ovarian cancer

Karin Kast, Kerstin Rhiem, Barbara Wappenschmidt, +35

Journal of Medical Genetics

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies Köpke, +29

The American Journal of Human Genetics

GeneticsImmunologyRetrograde TransportPathologyDisease Gene Identification +18

Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Dominik Sturm, David Capper, Felipe Andreiuolo, +54

Nature Medicine

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Christian Staufner, Tobias B. Haack, Marlies Köpke, +29

Journal of Inherited Metabolic Disease

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting <i>BRCA1/2</i> mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

Christine Fischer, Karoline Kuchenbäcker, Christoph Engel, +20

Journal of Medical Genetics

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

Radek Szklarczyk, Bas F.J. Wanschers, Leo Nijtmans, +12

Human Molecular Genetics

GeneticsMolecular BiologyPathologyMolecular GeneticsFam36a Gene +18

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

Kerstin Grund, Dominik Sturm, Christian Sutter, +9

OBM Genetics

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi, +47

Biological Psychiatry

Usp9x Function LeadsDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +9