Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, +17

Nature Genetics

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +6

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, +87

Science

DnaCytogeneticsGeneticsMolecular BiologyHigher Order Description +22

Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Erwin Petek, Christian Windpassinger, John B. Vincent, +5

The American Journal of Human Genetics

Signal TransductionNovel GeneGenetic DisorderGeneticsMolecular Biology +2

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub, +12

The American Journal of Human Genetics

Mitochondrial MyopathyMechanobiologyMuscle PathologyKinesiologyMendelian Disorder +8

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Anath C. Lionel, Andrea K. Vaags, Daisuke Sato, +29

Human Molecular Genetics

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Gerald Egger, Katharina M. Roetzer, Abdul Noor, +11

Neurogenetics

Syndromic AutismGeneticsRisk GenesGenetic EpidemiologyHuman Polymorphism +6

Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

Thomas Ebner, Katja Tritscher, Richard Bernhard Mayer, +6

Journal of Assisted Reproduction and Genetics

Developmental BiologyFertilityLive BirthReproductive HealthGynecology +8

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

Peter M. Kroisel, Erwin Petek, Klaus Wagner

American Journal of Medical Genetics

The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

Christian Windpassinger, Peter M. Kroisel, Klaus Wagner, +1

Gene

Molecular PharmacologyMolecular CharacterisationSignal TransductionMolecular PhysiologyG Protein-coupled Receptor +6

Epigenetics of the molecular clock and bacterial diversity in bipolar disorder

Susanne Bengesser, Sabrina Mörkl, Annamaria Painold, +18

Psychoneuroendocrinology

ChromatinBacterial DiversityGeneticsMolecular ClockEpigenetic Change +8