Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler, +26

Science

BiologyPcnt ResultsDevelopmental BiologyHuman GrowthCytogenetics +8

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom, +13

Nature Genetics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsNew Gene +5

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, +24

The American Journal of Human Genetics

Rad21 Mutations CauseGenetic DisorderGeneticsPathologyDisease Gene Identification +2

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer, +22

European Journal of Human Genetics

Developmental AnomalyMolecular Diagnostic TechniquesMendelian DisorderTreacher CollinsGenetic Disorder +7

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

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

Simone Schiller, Stephanie Spranger, Birgit Schechinger, +8

European Journal of Human Genetics

Allelic VariantGenetic DisorderGeneticsGenetic VariationGenetic Heterogeneity +1

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès, +19

Human Mutation

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz‐Depiereux, +8

The American Journal of Human Genetics

Single-nucleotide–polymorphism Oligonucleotide ArraysPsychiatryCopy-number VariationsGeneticsPsychiatric Genetics +4

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange, Burkhard S. Kasper, Axel Bohring, +21

Orphanet Journal of Rare Diseases

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