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Author/Creator Willemsen, Marjolein H.

1. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. Issue 7 (12th May 2017)

Authors:
Vermeulen, Karlijn; de Boer, Anneke; Janzing, Joost G. E.; Koolen, David A.; Ockeloen, Charlotte W.; Willemsen, Marjolein H.; Verhoef, Floor M.; van Deurzen, Patricia A. M.; van Dongen, Linde; van Bokhoven, Hans; Egger, Jos I. M.; Staal, Wouter G.; Kleefstra, Tjitske
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1821
Record Type:
Journal Article
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2. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience. (5th February 2023)

Authors:
Faas, Brigitte H. W.; Westra, Dineke; de Munnik, Sonja A.; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H.; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P.; Stegmann, Sander P. A.; Macville, Merryn;...
Journal:
Prenatal diagnosis
Issue:
Volume 43:Number 4(2023)
Page Start:
527
Record Type:
Journal Article
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3. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020)

Authors:
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1263
Record Type:
Journal Article
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4. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. Issue 11 (22nd September 2014)

Authors:
Snijders Blok, Charlotte; Corsten‐Janssen, Nicole; FitzPatrick, David R.; Romano, Corrado; Fichera, Marco; Vitello, Girolamo Aurelio; Willemsen, Marjolein H.; Schoots, Jeroen; Pfundt, Rolph; van Ravenswaaij‐Arts, Conny M.A.; Hoefsloot, Lies; Kleefstra, Tjitske
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2843
Record Type:
Journal Article
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5. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. (7th December 2018)

Authors:
Snoeijen‐Schouwenaars, Francesca M.; van Ool, Jans S.; Verhoeven, Judith S.; van Mierlo, Petra; Braakman, Hilde M. H.; Smeets, Eric E.; Nicolai, Joost; Schoots, Jeroen; Teunissen, Mariel W. A.; Rouhl, Rob P. W.; Tan, In Y.; Yntema, Helger G.; Brunner, Han G.; Pfundt, Rolph; Stegmann, Alexander P....
Journal:
Epilepsia
Issue:
Volume 60:issue 1(2019)
Page Start:
155
Record Type:
Journal Article
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7. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021)

Authors:
Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertra...
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3446
Record Type:
Journal Article
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8. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. Issue 9 (5th July 2021)

Authors:
Semino, Francesca; Schröter, Julian; Willemsen, Marjolein H.; Bast, Thomas; Biskup, Saskia; Beck‐Woedl, Stefanie; Brennenstuhl, Heiko; Schaaf, Christian P.; Kölker, Stefan; Hoffmann, Georg F.; Haack, Tobias B.; Syrbe, Steffen
Journal:
Human mutation
Issue:
Volume 42:Issue 9(2021)
Page Start:
1094
Record Type:
Journal Article
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