Saskia Tamminga

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals

Saskia Tamminga, Rachèl V. van Schendel, Wieke Rommers et al. · Prenatal Diagnosis · 2015 · 33 citations · Full text

Medicine, Maternal Health, Obstetrics +17

Two cases of <i>RIT1</i> associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

Doris Škorić‐Milosavljević, Eline Overwater, Saskia Tamminga et al. · American Journal of Medical Genetics Part A · 2016 · 22 citations · Full text

Medicine, Genetics, Pediatrics +17

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Tessa van Dijk, Fred van Ruissen, Bregje Jaeger et al. · JIMD Reports · 2016 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Population‐Attributable Risk of Risk Factors for Recurrent Wheezing in Moderate Preterm Infants During the First Year of Life

Maarten O. Blanken, Koos Korsten, Niek B. Achten et al. · Paediatric and Perinatal Epidemiology · 2016 · 18 citations

Public Health, Child Health, Pediatrics +16