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Author/Creator Willemsen, Marjolein H

1. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. Issue 12 (15th October 2011)

Authors:
Willemsen, Marjolein H; Vallès, Astrid; Kirkels, Laurens A M H; Mastebroek, Mathilde; Olde Loohuis, Nikkie; Kos, Aron; Wissink-Lindhout, Willemijn M; de Brouwer, Arjan P M; Nillesen, Willy M; Pfundt, Rolph; Holder-Espinasse, Muriel; Vallée, Louis; Andrieux, Joris; Coppens-Hofman, Marjolein C; Ren...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 12(2011)
Page Start:
810
Record Type:
Journal Article
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2. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Issue 5 (27th February 2015)

Authors:
Blanchard, Maxime G; Willemsen, Marjolein H; Walker, Jaclyn B; Dib-Hajj, Sulayman D; Waxman, Stephen G; Jongmans, Marjolijn CJ; Kleefstra, Tjitske; van de Warrenburg, Bart P; Praamstra, Peter; Nicolai, Joost; Yntema, Helger G; Bindels, René JM; Meisler, Miriam H; Kamsteeg, Erik-Jan
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
330
Record Type:
Journal Article
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3. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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4. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Issue 12 (11th October 2013)

Authors:
Schuurs-Hoeijmakers, Janneke H M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; van de Vondervoort, Ilse I G M; van Bon, Bregje W M; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla,...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
802
Record Type:
Journal Article
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5. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. Issue 7 (8th May 2014)

Authors:
Willemsen, Marjolein H; Ba, Wei; Wissink-Lindhout, Willemijn M; de Brouwer, Arjan P M; Haas, Stefan A; Bienek, Melanie; Hu, Hao; Vissers, Lisenka E L M; van Bokhoven, Hans; Kalscheuer, Vera; Nadif Kasri, Nael; Kleefstra, Tjitske
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 7(2014)
Page Start:
487
Record Type:
Journal Article
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6. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Issue 3 (24th February 2012)

Authors:
Willemsen, Marjolein H; Vissers, Lisenka E L; Willemsen, Michèl A A P; van Bon, Bregje W M; Kroes, Thessa; de Ligt, Joep; de Vries, Bert B; Schoots, Jeroen; Lugtenberg, Dorien; Hamel, Ben C J; van Bokhoven, Hans; Brunner, Han G; Veltman, Joris A; Kleefstra, Tjitske
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 3(2012)
Page Start:
179
Record Type:
Journal Article
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7. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Issue 7 (24th January 2017)

Authors:
Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sé...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
479
Record Type:
Journal Article
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