A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, +53

Human Molecular Genetics

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, +38

Human Mutation

A mutation screen in patients with Kabuki syndrome

Yun Li, Nina Bögershausen, Yasemin Alanay, +20

Human Genetics

Down SyndromeMendelian DisorderGenetic DisorderGeneticsPathology +3

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, +31

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathologyDisease Spectrum +3

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Nina Bögershausen, I-Chun Tsai, Esther Pohl, +25

Journal of Clinical Investigation

Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

Sangamitra Boppudi, Nina Bögershausen, Hanne Hove, +15

Clinical Genetics

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomics +14

CHARGE and Kabuki syndromes: a phenotypic and molecular link

Yvonne Schulz, Luisa Freese, Johanna Mänz, +7

Human Molecular Genetics

Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome

Gökhan Yigit, Karen E. Brown, Hülya Kayserili, +13

Molecular Genetics & Genomic Medicine

Brain DevelopmentGeneticsMotor DevelopmentPathologyMolecular Genetics +20

Update on the <i>ACTG1</i>‐associated Baraitser–Winter cerebrofrontofacial syndrome

Nataliya Di Donato, Alma Kuechler, Samantha A. Schrier Vergano, +15

American Journal of Medical Genetics Part A

Severe Cenani–Lenz syndrome caused by loss of LRP4 function

Ariana Kariminejad, Barbara Stollfuß, Yun Li, +4

American Journal of Medical Genetics Part A