Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, +34

The Lancet

Genetic MutationsMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum +5

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, +177

Nature

Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2 +6

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch, Juliane Hoyer, Sabine Guth, +10

American Journal of Medical Genetics Part A

Genetic TestingGeneticsPathologyEducationGenomics +19

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer, +17

The American Journal of Human Genetics

Clinical DisordersPsychiatryPitt-hopkins SyndromeIntermittent HyperventilationNeurology +4

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele, +16

The American Journal of Human Genetics

ChromatinDevelopmental BiologyChromatin StructureChromatin RemodelingGenetic Disorder +9

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert, +26

JAMA Psychiatry

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava, +33

Journal of Medical Genetics

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven, +11

The American Journal of Human Genetics

Genetic DisorderGeneticsFragile X SpectrumDisease Gene IdentificationGenomics +3

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn Renard, Tammy M. Holm, Regan Veith, +14

European Journal of Human Genetics

InflammationFibrosisCardiovascular ManifestationsDisease PathophysiologyPathogenesis +7

Virulence Factors Produced by Staphylococcus aureus Biofilms Have a Moonlighting Function Contributing to Biofilm Integrity

Alexander C. Graf, Anne Leonard, Manuel Schäuble, +6

Molecular & Cellular Proteomics