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Author/Creator Pfundt, R.

1. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Issue 6 (8th April 2016)

Authors:
Schönewolf‐Greulich, B.; Tejada, M.‐I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brøndum‐Nielsen, K.; Pfundt, R.; Ravn, K.; Maortua, H.; Gener, B.; Martínez‐Bouzas, C.; Piton, A.; Rouleau, G.; Clayton‐Smith, J.; Kleefstra, T.; Bisgaard, A.‐M.; Tümer, Z.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 6(2016)
Page Start:
733
Record Type:
Journal Article
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2. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Issue 1 (December 2017)

Authors:
Reijnders, M.; Kousi, M.; Woerden, G.; Klein, M.; Bralten, J.; Mancini, G.; Essen, T.; Proietti-Onori, M.; Smeets, E.; Gastel, M.; Stegmann, A.; Stevens, S.; Lelieveld, S.; Gilissen, C.; Pfundt, R.; Tan, P.; Kleefstra, T.; Franke, B.; Elgersma, Y.; Katsanis, N.
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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3. De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum. Issue 5 (14th February 2016)

Authors:
Jansen, S.; Kleefstra, T.; Willemsen, M.H.; de Vries, P.; Pfundt, R.; Hehir‐Kwa, J.Y.; Gilissen, C.; Veltman, J.A.; de Vries, B.B.A.; Vissers, L.E.L.M.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 5(2016)
Page Start:
413
Record Type:
Journal Article
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4. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018)

Authors:
Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1030
Record Type:
Journal Article
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5. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018)

Authors:
van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1000
Record Type:
Journal Article
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6. Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Issue 4 (13th February 2018)

Authors:
Chiu, A.T.G.; Pei, S.L.C.; Mak, C.C.Y.; Leung, G.K.C.; Yu, M.H.C.; Lee, S.L.; Vreeburg, M.; Pfundt, R.; van der Burgt, I.; Kleefstra, T.; Frederic, T.M.‐T.; Nambot, S.; Faivre, L.; Bruel, A.‐L.; Rossi, M.; Isidor, B.; Küry, S.; Cogne, B.; Besnard, T.; Willems, M.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 4(2018)
Page Start:
880
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗