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The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 91 - 104
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2017, Volume 100, Issue 4, pp. 650 - 658
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 10/2014, Volume 23, Issue 4, pp. 143 - 146
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article
by van der Sluijs, Pleuntje J and Jansen, Sandra and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Wödl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W Y and Chung, Brain H Y and Dahan, Karin and De Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, Hülya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and López-González, Vanesa and Maas, Saskia and Mancini, Grazia M S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C E H and Calvo, Amparo Sanchis and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Sonmez, Fatma Mujgan and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P A and Stumpel, Constance T R M and Tanabe, Saori and Uctepe, Eyyup and Utine, G Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2019, Volume 21, Issue 9, pp. 2160 - 2161
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)... 
Index Medicus
Journal Article
by van der Sluijs, Eline (P.J.) and Jansen, Sandra and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Wödl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F. J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W. Y and Chung, Brain H. Y and Dahan, Karin and De Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, Hülya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and López-González, Vanesa and Maas, Saskia and Mancini, Grazia M. S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N. M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A. L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C. E. H and Sanchis Calvo, Amparo and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Mujgan Sonmez, Fatma and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P. A and Stumpel, Constance T. R. M and Tanabe, Saori and Uctepe, Eyyup and Utine, G. Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1295 - 1307
Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most... 
Coffin–Siris syndrome | ARID1B | intellectual disability | bias | Intellectual disabilities
Journal Article
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article