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Sarju Mehta
Addenbrooke's Hospital
47H-index
94Paper Count
1.0WCitation Count
Published Papers 42
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Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?.png)
Prenatal Diagnosis.png)
2026-06-18
0
OAAI
A. Gibbs; R. Braham; V. Ramachandran; R. Roberts; C. Willison; T. Ashraf; J. Cobben; A. Gardham; M. Holder-Espinasse; T. Homfray; S. G. Mehta; D. Tapon; P. Vasudevan; N. J. Chandler
Prenatal DiagnosisIF2.7
2026-06-180OAAIA. Gibbs; R. Braham; V. Ramachandran; R. Roberts; C. Willison; T. Ashraf; J. Cobben; A. Gardham; M. Holder-Espinasse; T. Homfray; S. G. Mehta; D. Tapon; P. Vasudevan; N. J. Chandler.png){kind=icon}
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SaveComprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeClinical Genetics2026-04-090OAAIAmber S. E. van Oirsouw; Tzung-Chien Hsieh; Martijn Koetsier; Abdulrazak Alali; Fatimah Albuainain; Elena Bacchelli; Tahsin Stefan Barakat; Yline Capri; Sandra Chantot-Bastaraud; Valeria Capra; Deanna Alexis Carere; Emma Clement; Nour Elkhateeb; Madeleine Franchi; Jing-Mei Li; Nicole Matthews; Vanda McNiven; Sarju G. Mehta; Masayuki Nakamura; Chanika Phornphutkul; Nicole Revencu; Marcello Scala; Natalie Shallow; Jennifer Stefanich; Marta Viggiano; Paola Visconti; Susan Walker; Federico Zara; Mariëlle Alders; Bobby P. C. Koeleman; Renske Oegema
Clinical GeneticsIF2.3
2026-04-090OAAIAmber S. E. van Oirsouw; Tzung-Chien Hsieh; Martijn Koetsier; Abdulrazak Alali; Fatimah Albuainain; Elena Bacchelli; Tahsin Stefan Barakat; Yline Capri; Sandra Chantot-Bastaraud; Valeria Capra; Deanna Alexis Carere; Emma Clement; Nour Elkhateeb; Madeleine Franchi; Jing-Mei Li; Nicole Matthews; Vanda McNiven; Sarju G. Mehta; Masayuki Nakamura; Chanika Phornphutkul; Nicole Revencu; Marcello Scala; Natalie Shallow; Jennifer Stefanich; Marta Viggiano; Paola Visconti; Susan Walker; Federico Zara; Mariëlle Alders; Bobby P. C. Koeleman; Renske OegemaShareSaveFamilial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome2026-02-250OAAISarju G. Mehta; Simon Holden; Judith Babar; Sumit Karia; Maria T. A. Wetscherek; Allanah P. Barker; Jessica White; Sunwoo Liv Lee; Alison Foster; Eamonn R. Maher; Stefan J. Marciniak
2026-02-250OAAISarju G. Mehta; Simon Holden; Judith Babar; Sumit Karia; Maria T. A. Wetscherek; Allanah P. Barker; Jessica White; Sunwoo Liv Lee; Alison Foster; Eamonn R. Maher; Stefan J. MarciniakShareSaveAntenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related DisordersPrenatal Diagnosis2025-08-300OAAIVijaya Ramachandran; Natalie J. Chandler; Alexander Gibbs; Elspeth Whitby; Ruth Braham; Joseph Christopher; Sarju G. Mehta
Prenatal DiagnosisIF2.7
2025-08-300OAAIVijaya Ramachandran; Natalie J. Chandler; Alexander Gibbs; Elspeth Whitby; Ruth Braham; Joseph Christopher; Sarju G. MehtaShareSaveAn HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome2025-08-070
OAAISanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
2025-08-070OAAISanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna WeksbergShareSaveAn HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome2022-10-0117OAAIChoufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
2022-10-0117OAAIChoufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, RosannaShareSaveBiallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease2022-04-016OAAIThompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, Agnes
2022-04-016OAAIThompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, AgnesShareSaveThe broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionGENETICS IN MEDICINE2021-02-0127OAAILenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle
GENETICS IN MEDICINEIF6.2
2021-02-0127OAAILenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, VeerleShareSaveA Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK)2021-02-0151OAAIHonarbakhsh, Shohreh; Providencia, Rui; Garcia-Hernandez, Jorge; Martin, Claire A.; Hunter, Ross J.; Lim, Wei Y.; Kirkby, Claire; Graham, Adam J.; Sharifzadehgan, Ardalan; Waldmann, Victor; Marijon, Eloi; Munoz-Esparza, Carmen; Lacunza, Javier; Ramon Gimeno-Blanes, Juan; Ankou, Benedicte; Chevalier, Philippe; Antonio, Natalia; Elvas, Luis; Castelletti, Silvia; Crotti, Lia; Schwartz, Peter; Scanavacca, Mauricio; Darrieux, Francisco; Sacilotto, Luciana; Mueller-Leisse, Johanna; Veltmann, Christian; Vicentini, Alessandro; Demarchi, Andrea; Cortez-Dias, Nuno; Antonio, Pedro Silverio; de Sousa, Joao; Adragao, Pedro; Cavaco, Diogo; Costa, Francisco Morosco; Khoueiry, Ziad; Boveda, Serge; Sousa, Mario Joao; Jebberi, Zeynab; Heck, Patrick; Mehta, Sarju; Conte, Giulio; Ozkartal, Tardu; Auricchio, Angelo; Lowe, Martin D.; Schilling, Richard J.; Prieto-Merino, David; Lambiase, Pier D.
2021-02-0151OAAIHonarbakhsh, Shohreh; Providencia, Rui; Garcia-Hernandez, Jorge; Martin, Claire A.; Hunter, Ross J.; Lim, Wei Y.; Kirkby, Claire; Graham, Adam J.; Sharifzadehgan, Ardalan; Waldmann, Victor; Marijon, Eloi; Munoz-Esparza, Carmen; Lacunza, Javier; Ramon Gimeno-Blanes, Juan; Ankou, Benedicte; Chevalier, Philippe; Antonio, Natalia; Elvas, Luis; Castelletti, Silvia; Crotti, Lia; Schwartz, Peter; Scanavacca, Mauricio; Darrieux, Francisco; Sacilotto, Luciana; Mueller-Leisse, Johanna; Veltmann, Christian; Vicentini, Alessandro; Demarchi, Andrea; Cortez-Dias, Nuno; Antonio, Pedro Silverio; de Sousa, Joao; Adragao, Pedro; Cavaco, Diogo; Costa, Francisco Morosco; Khoueiry, Ziad; Boveda, Serge; Sousa, Mario Joao; Jebberi, Zeynab; Heck, Patrick; Mehta, Sarju; Conte, Giulio; Ozkartal, Tardu; Auricchio, Angelo; Lowe, Martin D.; Schilling, Richard J.; Prieto-Merino, David; Lambiase, Pier D.ShareSaveOpposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders2020-03-0165OAAIBarbosa, Sonia; Greville-Heygate, Stephanie; Bonnet, Maxime; Godwin, Annie; Fagotto-Kaufmann, Christine; Kajava, Andrey, V; Laouteouet, Damien; Mawby, Rebecca; Wai, Htoo Aung; Dingemans, Alexander J. M.; Hehir-Kwa, Jayne; Willems, Marjorlaine; Capri, Yline; Mehta, Sarju G.; Cox, Helen; Goudie, David; Vansenne, Fleur; Turnpenny, Peter; Vincent, Marie; Cogne, Benjamin; Lesca, Gaetan; Hertecant, Jozef; Rodriguez, Diana; Keren, Boris; Burglen, Lydie; Gerard, Marion; Putoux, Audrey; Cantagrel, Vincent; Siquier-Pernet, Karine; Rio, Marlene; Banka, Siddharth; Sarkar, Ajoy; Steeves, Marcie; Parker, Michael; Clement, Emma; Moutton, Sebastien; Mau-Them, Frederic Tran; Piton, Amelie; de Vries, Bert B. A.; Guille, Matthew; Debant, Anne; Schmidt, Susanne; Baralle, Diana
2020-03-0165OAAIBarbosa, Sonia; Greville-Heygate, Stephanie; Bonnet, Maxime; Godwin, Annie; Fagotto-Kaufmann, Christine; Kajava, Andrey, V; Laouteouet, Damien; Mawby, Rebecca; Wai, Htoo Aung; Dingemans, Alexander J. M.; Hehir-Kwa, Jayne; Willems, Marjorlaine; Capri, Yline; Mehta, Sarju G.; Cox, Helen; Goudie, David; Vansenne, Fleur; Turnpenny, Peter; Vincent, Marie; Cogne, Benjamin; Lesca, Gaetan; Hertecant, Jozef; Rodriguez, Diana; Keren, Boris; Burglen, Lydie; Gerard, Marion; Putoux, Audrey; Cantagrel, Vincent; Siquier-Pernet, Karine; Rio, Marlene; Banka, Siddharth; Sarkar, Ajoy; Steeves, Marcie; Parker, Michael; Clement, Emma; Moutton, Sebastien; Mau-Them, Frederic Tran; Piton, Amelie; de Vries, Bert B. A.; Guille, Matthew; Debant, Anne; Schmidt, Susanne; Baralle, DianaShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)GENETICS IN MEDICINE2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromeGENETICS IN MEDICINE2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveMutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons2019-05-0184OAAIBell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Ostern, Rune; Houge, Gunnar; Hafstrom, Maria; Fassi, Emily; Houlden, Henry; Wassink-Ruiter, Jolien S. Klein; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M., Jr.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M.
2019-05-0184OAAIBell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Ostern, Rune; Houge, Gunnar; Hafstrom, Maria; Fassi, Emily; Houlden, Henry; Wassink-Ruiter, Jolien S. Klein; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M., Jr.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M.ShareSavePrenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyLANCET2019-02-01498OAAILord, Jenny; McMullan, Dominic J.; Eberhardt, Ruth Y.; Rinck, Gabriele; Hamilton, Susan J.; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K.; Carey, Georgina K.; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R.; Chandler, Kate E.; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L.; Gardiner, Carol; Henderson, Alex; Holden, Simon T.; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A.; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W.; Ramsden, Simon C.; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J.; Vasudevan, Pradeep C.; Weber, Astrid P.; Wellesley, Diana G.; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H.; Kilby, Mark D.; Chitty, Lyn S.; Hurles, Matthew E.; Maher, Eamonn R.; Bateman, Mark; Campbell, Carolyn; Campbell, Jenni; Carey, Georgina; Cohen, Kelly; Collingwood, Emma; Constantinou, Panayiotis; Delmege, Catherine; Ellis, Richard; Evans, Jerry; Everett, Thomas; Pinto, Clare Ferreira; Forrester, Natalie; Fowler, Emma; Gardiner, Carol; Hamilton, Susan; Healey, Karen; Hudson, Rebecca; Marton, Tamas; Mehta, Sarju; Park, Soo-Mi; Prigmore, Elena; Quarrell, Oliver; Ramsden, Simon; Rowland, Jayne; Steer, James; Taylor, Emma Jane; Wilson, Elizabeth
LANCETIF88.5
2019-02-01498OAAILord, Jenny; McMullan, Dominic J.; Eberhardt, Ruth Y.; Rinck, Gabriele; Hamilton, Susan J.; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K.; Carey, Georgina K.; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R.; Chandler, Kate E.; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L.; Gardiner, Carol; Henderson, Alex; Holden, Simon T.; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A.; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W.; Ramsden, Simon C.; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J.; Vasudevan, Pradeep C.; Weber, Astrid P.; Wellesley, Diana G.; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H.; Kilby, Mark D.; Chitty, Lyn S.; Hurles, Matthew E.; Maher, Eamonn R.; Bateman, Mark; Campbell, Carolyn; Campbell, Jenni; Carey, Georgina; Cohen, Kelly; Collingwood, Emma; Constantinou, Panayiotis; Delmege, Catherine; Ellis, Richard; Evans, Jerry; Everett, Thomas; Pinto, Clare Ferreira; Forrester, Natalie; Fowler, Emma; Gardiner, Carol; Hamilton, Susan; Healey, Karen; Hudson, Rebecca; Marton, Tamas; Mehta, Sarju; Park, Soo-Mi; Prigmore, Elena; Quarrell, Oliver; Ramsden, Simon; Rowland, Jayne; Steer, James; Taylor, Emma Jane; Wilson, ElizabethShareSaveTelomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)SCIENTIFIC REPORTS2018-09-030OAAIFarmery, James H. R.; Smith, Mike L.; Lynch, Andy G.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M.; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C.; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M.; Millar, Carolyn M.; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J.; Rhodes, Christopher J.; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G.; Gosal, David; Perry, David J.; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin K. S.; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J.; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S.; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. 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Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne
SCIENTIFIC REPORTSIF3.9
2018-09-030OAAIFarmery, James H. 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Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. C.; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; McCarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael A.; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele P.; Makris, Mike; De Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Melanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Van Zuydam, Natalie; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas W.; Yeatman, Nigel; Roy, Noemi; Shamardina, Olga; Alavijeh, Omid S.; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul A.; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep K.; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R. Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, YvonneShareSaveMaternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring2018-03-24112OAAIBegemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; Fassrainer, Daniela Gonzalez; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Can Thi Bich Ngoc; Vu Chi Dung; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G.
2018-03-24112OAAIBegemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; Fassrainer, Daniela Gonzalez; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Can Thi Bich Ngoc; Vu Chi Dung; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G.ShareSaveA mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3HUMAN MUTATION2018-03-06134OAAISchepers, Dorien; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, Mark; Liang, David; Mehta, Sarju G.; Hague, Jennifer; Verhagen, Judith; van de Laar, Ingrid; Wessels, Marja; Detisch, Yvonne; van Haelst, Mieke; Baas, Annette; Lichtenbelt, Klaske; Braun, Kees; van der Linde, Denise; Roos-Hesselink, Jolien; McGillivray, George; Meester, Josephina; Maystadt, Isabelle; Coucke, Paul; El-Khoury, Elie; Parkash, Sandhya; Diness, Birgitte; Risom, Lotte; Scurr, Ingrid; Hilhorst-Hofstee, Yvonne; Morisaki, Takayuki; Richer, Julie; Desir, Julie; Kempers, Marlies; Rideout, Andrea L.; Horne, Gabrielle; Bennett, Chris; Rahikkala, Elisa; Vandeweyer, Geert; Alaerts, Maaike; Verstraeten, Aline; Dietz, Hal; Van Laer, Lut; Loeys, Bart
HUMAN MUTATIONIF3.7
2018-03-06134OAAISchepers, Dorien; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, Mark; Liang, David; Mehta, Sarju G.; Hague, Jennifer; Verhagen, Judith; van de Laar, Ingrid; Wessels, Marja; Detisch, Yvonne; van Haelst, Mieke; Baas, Annette; Lichtenbelt, Klaske; Braun, Kees; van der Linde, Denise; Roos-Hesselink, Jolien; McGillivray, George; Meester, Josephina; Maystadt, Isabelle; Coucke, Paul; El-Khoury, Elie; Parkash, Sandhya; Diness, Birgitte; Risom, Lotte; Scurr, Ingrid; Hilhorst-Hofstee, Yvonne; Morisaki, Takayuki; Richer, Julie; Desir, Julie; Kempers, Marlies; Rideout, Andrea L.; Horne, Gabrielle; Bennett, Chris; Rahikkala, Elisa; Vandeweyer, Geert; Alaerts, Maaike; Verstraeten, Aline; Dietz, Hal; Van Laer, Lut; Loeys, BartShareSaveHUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients2017-11-2775OAAIMoortgat, Stephanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, Francois-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjorn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cecile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A.
2017-11-2775OAAIMoortgat, Stephanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, Francois-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjorn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cecile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A.ShareSaveHaploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features2017-10-0165OAAIStankiewicz, Pawel; Khan, Tahir N.; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A.; Brown, Chester W.; Rosenfeld, Jill A.; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L.; Parsons, Donald W.; Plon, Sharon E.; Vieira, Marta W.; Quaio, Caio R. D. C.; Baratela, Wagner A. R.; Acosta Guio, Johanna C.; Armstrong, Ruth; Mehta, Sarju G.; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M.; Shinde, Deepali N.; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Bacino, Carlos A.; Xiao, Rui; Breman, Amy M.; Smith, Janice L.; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E.; Yang, Yaping
2017-10-0165OAAIStankiewicz, Pawel; Khan, Tahir N.; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A.; Brown, Chester W.; Rosenfeld, Jill A.; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L.; Parsons, Donald W.; Plon, Sharon E.; Vieira, Marta W.; Quaio, Caio R. D. C.; Baratela, Wagner A. R.; Acosta Guio, Johanna C.; Armstrong, Ruth; Mehta, Sarju G.; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M.; Shinde, Deepali N.; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Bacino, Carlos A.; Xiao, Rui; Breman, Amy M.; Smith, Janice L.; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E.; Yang, YapingShareSaveCERVICAL ARTERY DISSECTION AND ILIAC ARTERY ANEURYSM IN AN SMAD-4 MUTATION CARRIERNEUROLOGY-GENETICS2017-10-012OAAIWiener, Emmanuel; Martin, Peter; Mehta, Sarju; Markus, Hugh Stephen
NEUROLOGY-GENETICSIF3.7
2017-10-012OAAIWiener, Emmanuel; Martin, Peter; Mehta, Sarju; Markus, Hugh StephenShareSaveResearch Directions
No research directions