Fernanda Sarquis Jehee

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville et al. · The American Journal of Human Genetics · 2019 · 374 citations · Full text

Medicine, Maternal Health, Obstetrics +17

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee et al. · The American Journal of Human Genetics · 2007 · 270 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Fernanda Sarquis Jehee et al. · Cytogenetic and Genome Research · 2006 · 125 citations

Life Sciences, Genetics, Molecular Genetics +17

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

Emily S Doherty, Felicitas Lacbawan, Donald W. Hadley et al. · American Journal of Medical Genetics Part A · 2007 · 116 citations · Full text

Health Professions, Audiology, Otolaryngology +17

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal et al. · The American Journal of Human Genetics · 2022 · 97 citations · Full text

Medicine, Genetics, Obstetrics +17