Gijs W E Santen

Gijs W E Santen

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Gijs W E Santen

Gijs W E Santen

Publications by authors named "Gijs W E Santen"

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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

Rare disease specialists and clinical pharmacologists unite: Increase collection of longitudinal data!

Br J Clin Pharmacol 2019 Sep 4. Epub 2019 Sep 4.

Centre for Human Drug Research, Leiden, The Netherlands.

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http://dx.doi.org/10.1111/bcp.14079DOI Listing
September 2019

A functional assay to classify ZBTB24 missense variants of unknown significance.

Hum Mutat 2019 08 18;40(8):1077-1083. Epub 2019 Jun 18.

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

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http://dx.doi.org/10.1002/humu.23786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771626PMC
August 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

Exome sequencing in families with chronic central serous chorioretinopathy.

Mol Genet Genomic Med 2019 04 6;7(4):e00576. Epub 2019 Feb 6.

Department of Ophthalmology, Donders Institute of Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.576
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http://dx.doi.org/10.1002/mgg3.576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465660PMC
April 2019

The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.

Prog Neuropsychopharmacol Biol Psychiatry 2019 03 24;89:30-38. Epub 2018 Aug 24.

Department of Biological Sciences, Kent State University, Kent, OH 44242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pnpbp.2018.08.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249083PMC
March 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

δ-Catenin () missense mutation in familial cortical myoclonic tremor and epilepsy.

Neurology 2017 Dec 10;89(23):2341-2350. Epub 2017 Nov 10.

From the Departments of Neurology and Clinical Neurophysiology (A.-F.v.R., A.B., M.A.J.T.), Academic Medical Centre, Amsterdam Neuroscience, University of Amsterdam; Departments of Functional Genomics and Clinical Genetics (A.J.G.), CNCR, Neuroscience Campus Amsterdam, VU University and VU Medical Centre; Departments of Human Genetics (B.d.V., S.K., L.S.V., A.M.J.M.v.d.M.), Clinical Genetics (G.W.E.S.), and Neurology (A.M.J.M.v.d.M.), Leiden University Medical Centre; and Department of Neurology (P.M.C.C., M.A.J.T.), University Medical Centre Groningen, University of Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004709DOI Listing
December 2017

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

Mutations in TBL1X Are Associated With Central Hypothyroidism.

J Clin Endocrinol Metab 2016 12 7;101(12):4564-4573. Epub 2016 Sep 7.

Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2016-2531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155687PMC
December 2016

Imprinting: the Achilles heel of trio-based exome sequencing.

Genet Med 2016 11 15;18(11):1163-1164. Epub 2016 Sep 15.

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

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http://dx.doi.org/10.1038/gim.2016.128DOI Listing
November 2016

ESHG Plenary Debate 2015: Should Clinical Geneticists have their Genome Sequenced?

Authors:
Gijs W E Santen

Hum Mutat 2016 May 17;37(5):495-7. Epub 2016 Feb 17.

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

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http://dx.doi.org/10.1002/humu.22964DOI Listing
May 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 novel variant of FGFR3 causes proportionate short stature.

Eur J Endocrinol 2015 Jun 16;172(6):763-70. Epub 2015 Mar 16.

Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1530/EJE-14-0945DOI Listing
June 2015

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.

J Clin Endocrinol Metab 2015 Apr 16;100(4):E672-80. Epub 2015 Jan 16.

Department of Pediatrics (W.O., M.C.d.V., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Centre for Endocrinology, Diabetes, and Metabolism (J.I., J.W.M., P.J.H., A.E.T., M.W.O., B.A.H., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Clinical Genetics (S.G.K., G.W.E.S., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; and Department of Internal Medicine (A.J.M.H.V., A.G.U.), Erasmus Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2014-3556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399300PMC
April 2015

The ARID1B phenotype: what we have learned so far.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):276-89. Epub 2014 Aug 28.

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http://dx.doi.org/10.1002/ajmg.c.31414DOI Listing
September 2014

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Am J Med Genet A 2013 May 13;161A(5):973-6. Epub 2013 Mar 13.

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

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http://doi.wiley.com/10.1002/ajmg.a.35808
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http://dx.doi.org/10.1002/ajmg.a.35808DOI Listing
May 2013

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

Hum Mutat 2013 Mar 20;34(3):430-4. Epub 2012 Dec 20.

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

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http://dx.doi.org/10.1002/humu.22252DOI Listing
March 2013

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Epigenetics 2012 Nov 25;7(11):1219-24. Epub 2012 Sep 25.

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

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http://dx.doi.org/10.4161/epi.22299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499322PMC
November 2012