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

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

Kay MacDermot, Elena Bonora, Nuala Sykes, +8

The American Journal of Human Genetics

NeurolinguisticsLanguage DevelopmentAtypical Language DevelopmentPsycholinguisticsSpeech Disorders +14

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

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, +18

American Journal of Medical Genetics Part A

Nicolaides-baraitser SyndromeSevere Mental RetardationMendelian DisorderNeurological DisorderGenetic Disorder +12

Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

Robin L. Bennett, Erin O’Rourke, John A. Barranger, +5

Journal of Genetic Counseling

Reproductive Genetic CounselingCounselingGenetic TestingFabry DiseaseMendelian Disorder +12

Fabry Disease: Fourteenα-Galactosidase A Mutations inUnrelated Families from theUnited Kingdom and OtherEuropean Countries

Joanna P. Davies, Christine M. Eng, Jane A. Hille, +4

European Journal of Human Genetics

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Sonja C. Vernes, Kay MacDermot, Anthony P. Monaco, +1

European Journal of Human Genetics

Radial ray defect and Duane anomaly: Report of a family with autosomal dominant transmission

Kay MacDermot, Robin M. Winter, James F. Reynolds

American Journal of Medical Genetics

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

Juliette Piard, Muriel Holder‐Espinasse, Bernard Aral, +17

European Journal of Medical Genetics

Systematic SearchImmunodeficienciesSurgical PathologyClinical EpidemiologyDiagnosis +4