All papers authored by Rolph Pfundt
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2023
Dong Li 
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
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Charlotte Gehin ,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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2021
Marja W. Wessels,
Marjon H. Cnossen ,
Thamar B. van Dijk,
Nynke Gillemans,
K. L. Juliëtte Schmidt,
Kirsten van Lom,
Divya S. Vinjamur ,
Steven Coyne,
Ryo Kurita,
Yukio Nakamura,
Stella A. de Man ,
Rolph Pfundt ,
Zakia Azmani,
Rutger W. W. Brouwer ,
Daniel E. Bauer
and 3 other authors
,
Thamar B. van Dijk,
Nynke Gillemans,
K. L. Juliëtte Schmidt,
Kirsten van Lom,
Divya S. Vinjamur ,
Steven Coyne,
Ryo Kurita,
Yukio Nakamura,
Stella A. de Man ,
Rolph Pfundt ,
Zakia Azmani,
Rutger W. W. Brouwer ,
Daniel E. Bauer
and 3 other authors
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency
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