T
Tessa van Dijk
Researcher at Leiden University Medical Center
Publications - 6
Citations - 142
Tessa van Dijk is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Pontocerebellar hypoplasia & Newborn screening. The author has an hindex of 3, co-authored 4 publications receiving 80 citations.
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Journal ArticleDOI
What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
TL;DR: The clinical, neuroradiological and genetic characteristics of the different PCH subtypes are described, the differential diagnosis is summarized, and the discovery of new pathways involved in PCH is still symptomatic.
Journal ArticleDOI
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Ratna Tripathy,Ines Leca,Tessa van Dijk,Janneke Weiss,Bregje W.M. van Bon,Maria Christina Sergaki,Thomas Gstrein,Martin W. Breuss,Guoling Tian,Nadia Bahi-Buisson,Alex R. Paciorkowski,Alistair T. Pagnamenta,Andrea Wenninger-Weinzierl,Maria Fernanda Martinez-Reza,Lukas Landler,Stefano Lise,Jenny C. Taylor,Gaetano Terrone,Giuseppina Vitiello,Ennio Del Giudice,Nicola Brunetti-Pierri,Alessandra D'Amico,Alexandre Reymond,Norine Voisin,Jonathan A. Bernstein,Ellyn Farrelly,Usha Kini,Thomas A. Leonard,Stéphanie Valence,Lydie Burglen,Linlea Armstrong,Susan M. Hiatt,Gregory M. Cooper,Kimberly A. Aldinger,William B. Dobyns,Ghayda Mirzaa,Tyler Mark Pierson,Frank Baas,Jamel Chelly,Nicholas J. Cowan,David A. Keays +40 more
TL;DR: It is reported that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations in the absence of megalencephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Journal ArticleDOI
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Tessa van Dijk,Sacha Ferdinandusse,Jos P.N. Ruiter,Marielle Alders,Inge B. Mathijssen,Jillian S. Parboosingh,A. Micheil Innes,Hanne Meijers-Heijboer,Bwee Tien Poll-The,Francois P. Bernier,Ronald J.A. Wanders,Ryan E. Lamont,Frank Baas +12 more
TL;DR: It is demonstrated that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Journal ArticleDOI
Parents’ views on accepting, declining, and expanding newborn bloodspot screening
Sylvia M. van der Pal,Sophie Wins,Jasmijn E. Klapwijk,Tessa van Dijk,Adriana Kater-Kuipers,Catharina P.B. van der Ploeg,Suze Jans,Stephan Kemp,Rendelien K. Verschoof-Puite,Lion J.M. Van Den Bosch,Lidewij Henneman +10 more
TL;DR: Insights into parents’ views on (non-)participation and expansion of NBS can help to ensure that NBS suits the population needs while safeguarding ethical principles for screening.
EXOSC3 Pontocerebellar Hypoplasia
Frank Baas,Tessa van Dijk +1 more
TL;DR: Exosc3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells.