Accurate detection of clinically relevant uniparental disomy from exome sequencing data

av Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian
I publikationen Genet Med (2019)

Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

av Devanna, Paolo, van de Vorst, Maartje, Pfundt, Rolph, Gilissen, Christian, Vernes, Sonja C.
I publikationen Hum Genet (2018)

Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

av Verhoeven, Willem, Egger, Jos, Räkers, Emmy, van Erkelens, Arjen, Pfundt, Rolph, Willemsen, Marjolein H
I publikationen Neuropsychiatr Dis Treat (2018)

Reduced purifying selection prevails over positive selection in human copy number variant evolution

av Nguyen, Duc-Quang, Webber, Caleb, Hehir-Kwa, Jayne, Pfundt, Rolph, Veltman, Joris, Ponting, Chris P.
Publicerad 2008

A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

av Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance
I publikationen Clin Case Rep (2017)

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

av Jongmans, Marjolijn C. J., Diets, Illja J., Quarello, Paola, Garelli, Emanuela, Kuiper, Roland P., Pfundt, Rolph
I publikationen Haematologica (2018)

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

av Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph
I publikationen Mol Genet Genomic Med (2019)

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis

av AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.
I publikationen Genet Res (Camb) (2015)

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

av Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Publicerad 2014

The clustering of functionally related genes contributes to CNV-mediated disease

av Andrews, Tallulah, Honti, Frantisek, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne, Vulto-van Silfhout, Anneke, de Vries, Bert, Webber, Caleb
I publikationen Genome Res (2015)

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

av Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian
I publikationen Am J Hum Genet (2017)

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

av Van de Kerkhof, Noortje WA, Feenstra, Ilse, van der Heijden, Frank MMA, de Leeuw, Nicole, Pfundt, Rolph, Stöber, Gerald, Egger, Jos IM, Verhoeven, Willem MA
Publicerad 2012

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

av Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.
Publicerad 2010

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

av Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H
Publicerad 2012

Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders

av Andrews, Tallulah, Meader, Stephen, Vulto-van Silfhout, Anneke, Taylor, Avigail, Steinberg, Julia, Hehir-Kwa, Jayne, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B. A., Webber, Caleb
I publikationen PLoS Genet (2015)

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

av Verhoeven, Willem M A, Egger, Jos I M, Jongbloed, Rob E, van Putten, Marloes Meijer, de Bruin-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
I publikationen Int Med Case Rep J (2020)

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

av Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Publicerad 2010

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

av Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Publicerad 2010

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

av Stevens-Kroef, Marian JPL, van den Berg, Eva, Olde Weghuis, Daniel, Geurts van Kessel, Ad, Pfundt, Rolph, Linssen-Wiersma, Matty, Benjamins, Marloes, Dijkhuizen, Trijnie, Groenen, Patricia JTA, Simons, Annet
Publicerad 2014

Recurrent Rhabdomyolysis in a Patient with Oculocutaneous Albinism Type 1 and Platelet Storage –Pool Deficiency

av Contopoulos-Ioannidis, Despina, Evangeliou, Athanasios, Laak, Henk ter, de Vries, Bert, Pfundt, Rolph, Scheffer, Hans, Smeitink, Jan, Tzoufi, Meropi, Makis, Alexandros, Marinos, Evangelos, Hess, Richard, Adams, David, Huizing, Marjan, Morava, Eva
Publicerad 2008