Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, +34

Genetics in Medicine

Intimate RelationshipGender StudiesSociologyConsanguineous MarriagesForced Marriage +6

Prenatal diagnostic indicators of paternal uniparental disomy 14

Logos Curtis, E. Antonelli, Yvan Vial, +5

Prenatal Diagnosis

The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

Claudia Ginsburg, Siv Fokstuen, Albert Schinzel

American Journal of Medical Genetics

FertilityGeneticsGenetic EpidemiologyReproductive HealthMaternal Upd 15 +22

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni, +32

Human Mutation

Array CghRare DiseasesMendelian DisorderGenetic DisorderExome Sequencing +13

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Siv Fokstuen, Robert Lyle, Analia Muñoz, +11

Human Mutation

GeneticsGenetic EpidemiologyDna AnalysisMolecular BiologyPathology +16

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

Matthias Wilhelm, Stephan A. Bolliger, Christine Bärtsch, +14

Swiss Medical Weekly

Genetic TestingHeart FailureMultidisciplinary ApproachDiagnosisCongenital Heart Anomaly +15

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

Siv Fokstuen, U Arbenz, Sevilhan Artan, +6

Clinical Genetics

Heart DefectsPediatric Heart DiseaseGeneticsGenetic EpidemiologyPathology +18

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

Siv Fokstuen, Claudia Ginsburg, M. Zachmann, +1

The Journal of Pediatrics

Developmental AnomalyInfertilityDevelopmental BiologyFertilityEarly Onset +11

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients

Siv Fokstuen, Armand Bottani, P. Medeiros, +3

American Journal of Medical Genetics

Developmental AnomalyGlottic WebMedicineGeneticsPediatrics +11

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart, +27

Journal of Medical Genetics