Constance Stumpel

Constance Stumpel

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Constance Stumpel

Constance Stumpel

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.

Am J Med Genet A 2019 02 17;179(2):219-223. Epub 2018 Dec 17.

Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.60696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590336PMC
February 2019

Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results.

Horm Res Paediatr 2017 9;88(3-4):258-264. Epub 2017 Aug 9.

Department of Clinical Genetics and GROW - School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, the Netherlands.

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http://dx.doi.org/10.1159/000479368DOI Listing
June 2018

The 6p25 deletion syndrome: An update on a rare neurocristopathy.

Ophthalmic Genet 2017 Mar-Apr;38(2):101-107. Epub 2016 Apr 12.

a Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW) , Maastricht University Medical Center+ , Maastricht , the Netherlands.

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http://dx.doi.org/10.3109/13816810.2016.1164191DOI Listing
November 2017

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

Clin Case Rep 2017 08 15;5(8):1213-1217. Epub 2017 Jun 15.

Department of Clinical Genetics and School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands.

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http://dx.doi.org/10.1002/ccr3.1038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538050PMC
August 2017

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.

Horm Res Paediatr 2016 21;86(5):319-324. Epub 2016 Sep 21.

Department of Paediatrics, Zuyderland Medical Centre, Heerlen, The Netherlands.

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http://dx.doi.org/10.1159/000449221DOI Listing
April 2017

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.

Fetal Pediatr Pathol 2016 16;35(2):112-9. Epub 2016 Feb 16.

d Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW) , Maastricht University Medical Center , Maastricht , The Netherlands.

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http://dx.doi.org/10.3109/15513815.2016.1139018DOI Listing
December 2016

Growth pattern in Kabuki syndrome with a KMT2D mutation.

Am J Med Genet A 2016 12 17;170(12):3172-3179. Epub 2016 Aug 17.

Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37930DOI Listing
December 2016

The cilium: a cellular antenna with an influence on obesity risk.

Br J Nutr 2016 Aug 20;116(4):576-92. Epub 2016 Jun 20.

2Department of Clinical Genetics,Maastricht University Medical Centre,PO Box 5800, 6202 AZ Maastricht,The Netherlands.

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http://dx.doi.org/10.1017/S0007114516002282DOI Listing
August 2016

The inflatable thymus herniation of the normal mediastinal thymus: A case report and review of the literature.

Int J Pediatr Otorhinolaryngol 2016 Apr 28;83:74-7. Epub 2016 Jan 28.

Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876160003
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http://dx.doi.org/10.1016/j.ijporl.2016.01.019DOI Listing
April 2016

Body proportions in children with Kabuki syndrome.

Am J Med Genet A 2016 Mar 9;170(3):610-4. Epub 2015 Nov 9.

Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37467DOI Listing
March 2016