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dr. C.M.L. (Nienke) Volker-Touw

dr. C.M.L. (Nienke) Volker-Touw

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (10)

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant

Duvekot Jantiene C., Baas Annette F., Volker-Touw Catharina M.L., Bikker Hennie, Schroer Christian, Breur Johannes M.P.J. Nov 2021, In: Canadian Journal of Cardiology. 37 , p. 1864-1866 3 p.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Harris Holly K et al. Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 1028-1040 13 p.

NBEA:Developmental disease gene with early generalized epilepsy phenotypes

Mulhern Maureen S, Stumpel Constance, Stong Nicholas, Brunner Han G, Bier Louise, Lippa Natalie, Riviello James, Rouhl Rob P W, Kempers Marlies, Pfundt Rolph, Stegmann Alexander P A, Kukolich Mary K, Telegrafi Aida, Lehman Anna, Lopez-Rangel Elena, Houcinat Nada, Barth Magalie, den Hollander Nicolette, Hoffer Mariette J V, Weckhuysen Sarah, Roovers Jolien, Djemie Tania, Barca Diana, Ceulemans Berten, Craiu Dana, Lemke Johannes R, Korff Christian, Mefford Heather C, Meyers Candace T, Siegler Zsuzsanna, Hiatt Susan M, Cooper Gregory M, Bebin E Martina, Snijders Blok Lot, Veenstra-Knol Hermine E, Baugh Evan H, Brilstra Eva H, Volker-Touw Catharina M L, van Binsbergen Ellen, Revah-Politi Anya, Pereira Elaine, McBrian Danielle, Pacault Mathilde, Isidor Bertrand, Le Caignec Cedric, Gilbert-Dussardier Brigitte, Bilan Frederic, Heinzen Erin L, Goldstein David B, Stevens Servi J C, Nov 2018, In: Annals of Neurology. 84 , p. 788-795 8 p.

Cantú syndrome, the changing phenotype:a report of the two oldest Dutch patients

Roessler Helen I, Volker-Touw Catharina M L, Terhal Paulien A, van Haaften Gijs, van Haelst Mieke M Jul 2018, In: Clinical dysmorphology. 27 , p. 78-83 6 p.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin Claire et al. Jan 2017, In: Nature Genetics. 49 , p. 36–45 10 p.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

Volker-Touw C. M L, de Koning H. D., Giltay J. C., de Kovel C. G F, van Kempen T. S., Oberndorff K. M E J, Boes M. L., van Steensel M. A M, van Well G. T J, Blokx W. A M, Schalkwijk J., Simon A., Frenkel J., van Gijn M. E. Jan 2017, In: British Journal of Dermatology. 176 , p. 244-248 5 p.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Ait-El-Mkadem Samira, Dayem-Quere Manal, Gusic Mirjana, Chaussenot Annabelle, Bannwarth Sylvie, François Bérengère, Genin Emmanuelle C, Fragaki Konstantina, Volker-Touw Catharina L M, Vasnier Christelle, Serre Valérie, van Gassen Koen L I, Lespinasse Françoise, Richter Susan, Eisenhofer Graeme, Rouzier Cécile, Mochel Fanny, De Saint-Martin Anne, Abi Warde Marie-Thérèse, de Sain-van der Velden Monique G M, Jans Judith J M, Amiel Jeanne, Avsec Ziga, Mertes Christian, Haack Tobias B, Strom Tim, Meitinger Thomas, Bonnen Penelope E, Taylor Robert W, Gagneur Julien, van Hasselt Peter M, Rötig Agnès, Delahodde Agnès, Prokisch Holger, Fuchs Sabine A, Paquis-Flucklinger Véronique 10 Dec 2016, In: American Journal of Human Genetics. 100 , p. 151–159

Living on the edge:Substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

van Eunen Karen, Volker-Touw Catharina M L, Gerding Albert, Bleeker Aycha, Wolters Justina C., van Rijt Willemijn J., Martines Anne Claire M F, Niezen-Koning Klary E., Heiner Rebecca M., Permentier Hjalmar, Groen Albert K., Reijngoud Dirk Jan, Derks Terry G J, Bakker Barbara M. 7 Dec 2016, In: BMC Biology. 14

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

Volker-Touw N., de Koning H., van Kempen T., Oberndorff K., van Steensel M., Giltay J., Boes M., de Kovel C., Simon A., Frenkel J., van Gijn M. 28 Sep 2015, In: Pediatric Rheumatology. 13

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka Akemi J., Cho Megan T., Millan Francisca, Juusola Jane, Retterer Kyle, Joshi Charuta, Niyazov Dmitriy, Garnica Adolfo, Gratz Edward, Deardorff Matthew, Wilkins Alisha, Ortiz-Gonzalez Xilma, Mathews Katherine, Panzer Karin, Brilstra Eva, Van Gassen Koen L I, Volker-Touw Catharina M L, van Binsbergen Ellen, Sobreira Nara, Hamosh Ada, McKnight Dianalee, Monaghan Kristin G., Chung Wendy K. 3 Sep 2015, In: American Journal of Human Genetics. 97 , p. 457-464 8 p.

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