Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems, Magdalena Chmara, Mourad Sahbatou, +12

Nature Genetics

Genome InstabilityDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +6

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, +11

The American Journal of Human Genetics

Histone ModificationsChromatinGene Deletion DataChromatin StructureSubtelomeric Deletion Syndrome +12

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel, +10

The American Journal of Human Genetics

Transcriptional RegulationDevelopmental BiologyGrowth HormoneHuman GrowthGenetic Disorder +8

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, +10

The American Journal of Human Genetics

Novel Hoxa13 MutationsMendelian DisorderGenetic DisorderGeneticsPathology +3

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa, +46

Nature Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsHeterozygous Missense Mutations +3

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn Renard, Bert Callewaert, Machteld Baetens, +13

International Journal of Cardiology

Acta2 MutationsMolecular PhysiologySignal TransductionSignaling PathwayFibroblast Growth Factor +7

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon, +26

The American Journal of Human Genetics

HypertensionRenal FunctionMedicineGeneticsRenal Pathology +8

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, +12

The American Journal of Human Genetics

Developmental BiologyCytogeneticsGenetic DisorderGeneticsPathology +9

Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy

Vinaya Simha, Anil K. Agarwal, Elif A Oral, +2

The Journal of Clinical Endocrinology & Metabolism

Structural chromosome rearrangements in couples with recurrent fetal wastage

Jean‐Pierre Fryns, Griet Van Buggenhout

European Journal of Obstetrics & Gynecology and Reproductive Biology

ChromatinGeneticsChromosome BiologyStructural Chromosome RearrangementsChromosomal Rearrangement +2