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prof. dr. B. (Gepke) Veneman

prof. dr. B. (Gepke) Veneman

Assistant Professor - medical

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Research Output (176)

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

Renkema G. Herma, Visser G., Baertling F., Wintjes L. T., Wolters V. M., van Montfrans J., de Kort G. A.P., Nikkels P. G.J., van Hasselt P. M., van der Crabben S. N., Rodenburg Richard J. T. 1 Jun 2017, In: Human Genetics. 136 , p. 759-769 11 p.

PIGO deficiency:Palmoplantar keratoderma and novel mutations

Morren Marie Anne, Jaeken Jaak, Visser Gepke, Salles Isabelle, Van Geet Chris, Simeoni Ilenia, Turro Ernest, Freson Kathleen 25 May 2017, In: Orphanet Journal of Rare Diseases. 12

Expanding the phenotypic spectrum of GABRG2 variants:a recurrent GABRG2 missense variant associated with a severe phenotype

Zou Fanggeng, McWalter Kirsty, Schmidt Lindsay, Decker Amy, Picker Jonathan D, Lincoln Sharyn, Sweetser David A, Briere Lauren C, Harini Chellamani, Marsh Eric, Medne Livija, Wang Raymond Y, Leydiker Karen, Mower Andrew, Visser Gepke, Cuppen Inge, van Gassen Koen L, van der Smagt Jasper, Yousaf Adeel, Tennison Michael, Shanmugham Anita, Butler Elizabeth, Richard Gabriele, McKnight Dianalee, 2 May 2017, In: Journal of Neurogenetics. 31 , p. 30-36 7 p.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Lipstein Noa, Verhoeven-Duif Nanda M., Michelassi Francesco E., Calloway Nathaniel, Van Hasselt Peter M., Pienkowska Katarzyna, Van Haaften Gijs, Van Haelst Mieke M., van Empelen R., Cuppen Inge, Van Teeseling Heleen C., Evelein Annemieke M V, Vorstman Jacob A., Thoms Sven, Jahn Olaf, Duran KJ, Monroe Glen R., Ryan Timothy A., Taschenberger Holger, Dittman Jeremy S., Rhee Jeong Seop, Visser Gepke, Jans Judith J., Brose Nils 1 Mar 2017, In: Journal of Clinical Investigation. 127 , p. 1005-1018 14 p.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe Glen R., Frederix Gerardus W., Savelberg Sanne M C, De Vries Tamar I., Duran Karen J., Van Der Smagt Jasper J., Terhal Paulien A., Van Hasselt Peter M., Kroes Hester Y., Verhoeven-Duif Nanda M., Nijman Isaäc J., Carbo Ellen C., Van Gassen Koen L., Knoers Nine V., Hövels Anke M., Van Haelst Mieke M., Visser Gepke, Van Haaften Gijs 1 Sep 2016, In: Genetics in Medicine. 18 , p. 949-956 8 p.

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

Prinsen Hubertus C M T, Schiebergen-Bronkhorst B. G M, Roeleveld M. W., Jans J. J M, de Sain-van der Velden M. G M, Visser G., van Hasselt P. M., Verhoeven-Duif N. M. Sep 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 651–660 10 p.

ALG6-CDG:a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava Eva, Tiemes Vera, Tiel Christian, Seta Nathalie, de Lonlay Pascale, de Klerk Hans, Mulder Margot, Rubio-Gozalbo Estela, Visser Gepke, van Hasselt Peter, Horovitz Dafne D G, de Souza Carolina Fischinger Moura, Schwartz Ida V D, Green Andrew, Al-Owain Mohammed, Uziel Graciella, Sigaudy Sabine, Chabrol Brigitte, van Spronsen Franc Jan, Steinert Martin, Komini Eleni, Wurm Donald, Bevot Andrea, Ayadi Addelkarim, Huijben Karin, Dercksen Marli, Witters Peter, Jaeken Jaak, Matthijs Gert, Lefeber Dirk J., Wevers Ron A. Sep 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 713-723 11 p.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (vol 39, pg 713, 2016)

Morava Eva, Tiemes Vera, Thiel Christian, Seta Nathalie, de Lonlay Pascale, de Klerk Hans, Mulder Margot, Rubio-Gozalbo Estela, Visser Gepke, van Hasselt Peter, Horovitz Dafne D. G., Moura de Souza Carolina Fischinger, Schwartz Ida V. D., Green Andrew, Al-Owain Mohammed, Uziel Graciella, Sigaudy Sabine, Chabrol Brigitte, van Spronsen Franc-Jan, Steinert Martin, Komini Eleni, Wurm Donald, Bevot Andrea, Ayadi Addelkarim, Huijben Karin, Dercksen Marli, Witters Peter, Jaeken Jaak, Matthijs Gert, Lefeber Dirk J., Wevers Ron A. Sep 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 759-759

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

Vester Marloes E M, Visser Gepke, Wijburg Frits A., van Spronsen Francjan J., Williams Monique, van Rijn Rick R. 1 Jul 2016, In: European Journal of Pediatrics. 175 , p. 1001-1006 6 p.

Inborn Errors of Metabolism That Cause Sudden Infant Death:A Systematic Review with Implications for Population Neonatal Screening Programmes

van Rijt Willemijn J., Koolhaas Geneviève D., Bekhof Jolita, Heiner Fokkema M. Rebecca, de Koning Tom J., Visser Gepke, Schielen Peter C J I, van Spronsen Francjan J., Derks Terry G J Jun 2016, In: Neonatology. 109 , p. 297-302 6 p.

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