Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, +42

Journal of the American College of Cardiology

A randomized comparison of doxorubicin alone versus doxorubicin plus cyclophosphamide in the management of advanced or recurrent endometrial carcinoma: A Gynecologic Oncology Group study.

J.T. Thigpen, John A. Blessing, Philip J. DiSaia, +3

Journal of Clinical Oncology

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, +22

European Journal of Human Genetics

SequencingMendelian DisorderGenetic DisorderNext-generation SequencingGenetics +5

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter, +20

Genetics in Medicine

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology +5

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, +33

Genome Medicine

Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog, Tatjana Bierhals, K. Gerhard Brand, +17

Orphanet Journal of Rare Diseases

Central 22q11.2 deletions

Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, +13

American Journal of Medical Genetics Part A

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

Christina Evers, Christian Staufner, Martin Granzow, +14

Molecular Genetics and Metabolism

Neurodevelopmental DisordersNeurodegenerative DiseasesMendelian DisorderBrain DevelopmentNeurological Disorder +8

Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance

Anne Thiel, Manfred Beier, Deborah Ingenhag, +8

Leukemia

Karyotype ImagingCytogeneticsMedicineGeneticsPrognostic Relevance +7

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors

Cathrin Huth, Matthias Kloor, Anita Y. Voigt, +7

Modern Pathology

Tumor BiologyMedicinePathologyLynch Syndrome-associated TumorsCancer Genomics +8