Claudia Ruivenkamp

Claudia Ruivenkamp

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Claudia Ruivenkamp

Publications by authors named "Claudia Ruivenkamp"

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Response to Gorokhova et al.

Genet Med 2019 Nov 20;21(11):2656-2657. Epub 2019 May 20.

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

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http://dx.doi.org/10.1038/s41436-019-0547-5DOI Listing
November 2019

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

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 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

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Front Physiol 2019 8;10:388. Epub 2019 Apr 8.

Department of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL, United States.

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https://www.frontiersin.org/article/10.3389/fphys.2019.00388
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http://dx.doi.org/10.3389/fphys.2019.00388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465419PMC
April 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

Am J Med Genet A 2018 05;176(5):1212-1215

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

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http://dx.doi.org/10.1002/ajmg.a.38666DOI Listing
May 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Am J Med Genet A 2016 12 29;170(12):3289-3293. Epub 2016 Aug 29.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.37934DOI Listing
December 2016

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Eur J Endocrinol 2016 Apr 17;174(4):R145-73. Epub 2015 Nov 17.

Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1530/EJE-15-0937DOI Listing
April 2016

Next-generation diagnostics: gene panel, exome, or whole genome?

Hum Mutat 2015 Jun 17;36(6):648-55. Epub 2015 Apr 17.

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

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http://dx.doi.org/10.1002/humu.22783DOI Listing
June 2015

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.

Am J Med Genet A 2014 Nov 13;164A(11):2863-8. Epub 2014 Aug 13.

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

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http://dx.doi.org/10.1002/ajmg.a.36700DOI Listing
November 2014

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Molecular and clinical characterization of patients with a ring chromosome 11.

Eur J Med Genet 2012 Dec 23;55(12):708-14. Epub 2012 Aug 23.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.08.004DOI Listing
December 2012

Molecular karyotyping: from microscope to SNP arrays.

Horm Res Paediatr 2011 25;76(3):208-13. Epub 2011 Aug 25.

Clinical Genetics, Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1159/000330406DOI Listing
February 2012

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Eur J Med Genet 2011 Jul-Aug;54(4):e409-12. Epub 2011 May 23.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.002DOI Listing
October 2011

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

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

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.003DOI Listing
January 2011

Interstitial duplication in the proximal long arm of chromosome 16.

Am J Med Genet A 2010 Jul;152A(7):1858-61

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

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http://dx.doi.org/10.1002/ajmg.a.33434DOI Listing
July 2010

Genome-wide SNP array analysis in patients with features of sotos syndrome.

Horm Res Paediatr 2010 9;73(4):265-74. Epub 2010 Mar 9.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser @ lumc.nl

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http://dx.doi.org/10.1159/000284391DOI Listing
June 2010

Laboratory methods for the detection of chromosomal abnormalities.

Methods Mol Biol 2010 ;628:53-73

Department of Molecular Medicine & Surgery, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1007/978-1-60327-367-1_4DOI Listing
May 2010

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

J Clin Endocrinol Metab 2009 Dec 28;94(12):4717-27. Epub 2009 Oct 28.

Department of Pediatrics, Subdivision of Endocrinology, Erasmus Medical Center Sophia Children's Hospital, 3015 GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2008-1502DOI Listing
December 2009

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.

Breast Cancer Res Treat 2009 Nov 10;118(1):151-9. Epub 2009 Feb 10.

Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro 3, Madrid, 28029, Spain.

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http://link.springer.com/10.1007/s10549-009-0317-1
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http://dx.doi.org/10.1007/s10549-009-0317-1DOI Listing
November 2009

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Eur J Med Genet 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.

Department of Biomedical Genetics, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.015DOI Listing
November 2009

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

Am J Med Genet A 2009 May;149A(5):975-81

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

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http://dx.doi.org/10.1002/ajmg.a.32748DOI Listing
May 2009

Identification of copy number variants associated with BPES-like phenotypes.

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-008-0574-9DOI Listing
December 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.003DOI Listing
November 2008

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Hum Genet 2005 Nov 15;118(2):185-206. Epub 2005 Nov 15.

Center for Human and Clinical Genetics, Sylvius Laboratory, Leiden University Medical Center, Wassenaarseweg 72, 2333, AL, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0027-7DOI Listing
November 2005

Five new mouse susceptibility to colon cancer loci, Scc11-Scc15.

Oncogene 2003 Oct;22(46):7258-60

Division of Molecular Genetics, The Netherlands Cancer Institute, Plesmanlaan 121, 1066CX Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.onc.1207096DOI Listing
October 2003

LOH of PTPRJ occurs early in colorectal cancer and is associated with chromosomal loss of 18q12-21.

Oncogene 2003 May;22(22):3472-4

Division of Molecular Genetics, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.onc.1206246DOI Listing
May 2003