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Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus Tenorio-castano, Jair; Feito, Marta; De Lucas, Raul; Sendagorta, Elena; Gomez-fernandez, Cristina; Parra, Alejandro; Vallespin, Elena; Gallego-zazo, Natalia; Cazalla, Mario; Jimenez-estrada, Juan A.; Miranda-alcaraz, Lucia; Mora-gomez, Monica; Rodriguez-cano, Manuel Jesus; Vazquez-amell, Valeria; Ramos, Sergio; Valle, Tomas; Mansilla, Elena; Santiago, Fe Garcia; Galan-gomez, Enrique; Calpena, Eduardo; Ruiz-perez, Victor L.; Nevado, Julian; Lapunzina, Pablo Share Save
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo Share Save
The impact of inversions across 33,924 familieswith rare disease from a nationalgenome sequencing project Pagnamenta, Alistair T.; Yu, Jing; Walker, Susan; Noble, Alexandra J.; Lord, Jenny; Dutta, Prasun; Hashim, Mona; Camps, Carme; Green, Hannah; Devaiah, Smrithi; Nashef, Lina; Parr, Jason; Fratter, Carl; Hussein, Rana Ibnouf; Lindsay, Sarah J.; Lalloo, Fiona; Banos-Pinero, Benito; Evans, David; Mallin, Lucy; Waite, Adrian; Evans, Julie; Newman, Andrew; Allen, Zoe; Perez-Becerril, Cristina; Ryan, Gavin; Hart, Rachel; Taylor, John; Bedenham, Tina; Clement, Emma; Blair, Ed; Hay, Eleanor; Forzano, Francesca; Higgs, Jenny; Canham, Natalie; Majumdar, Anirban; Mcentagart, Meriel; Lahiri, Nayana; Stewart, Helen; Smithson, Sarah; Calpena, Eduardo; Jackson, Adam; Banka, Siddharth; Titheradge, Hannah; Mcgowan, Ruth; Rankin, Julia; Shaw-Smith, Charles; Evans, D. Gareth; Burghel, George J.; Smith, Miriam J.; Anderson, Emily; Madhu, Rajesh; Firth, Helen; Ellard, Sian; Brennan, Paul; Anderson, Claire; Taupin, Doug; Rogers, Mark T.; Cook, Jackie A.; Durkie, Miranda; East, James E.; Fowler, Darren; Wilson, Louise; Igbokwe, Rebecca; Gardham, Alice; Tomlinson, Ian; Baralle, Diana; Uhlig, Holm H.; Taylor, Jenny C. Share Save
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos-Pinero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C. Share Save
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay Lippincott, Margaret F.; Xu, Wanxue; Smith, Abigail A.; Miao, Xinyu; Lafont, Agathe; Shennib, Omar; Farley, Gordon J.; Sabbagh, Riwa; Delaney, Angela; Stamou, Maria; Plummer, Lacey; Salnikov, Kathryn; Georgopoulos, Neoklis A.; Mericq, Veronica; Quinton, Richard; Mau-Them, Frederic Tran; Nambot, Sophie; Hamad, Asma; Brittain, Helen; Tooze, Rebecca S.; Calpena, Eduardo; Wilkie, Andrew O. M.; Willems, Marjolaine; Crowley, William F.; Balasubramanian, Ravikumar; Lamarche-Vane, Nathalie; Davis, Erica E.; Seminara, Stephanie B. Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S.; Brittain, Helen; Twigg, Stephen R. F.; Cilliers, Deirdre; Morton, Jenny E., V; McCann, Emma; Weber, Astrid; Wilson, Louise C.; Douglas, Andrew G. L.; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R. A.; Hill, Susan L.; Deans, Zandra C.; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H.; Wilkie, Andrew O. M. Share Save
Dissection of contiguous gene effects for deletions around ERF on chromosome 19 Calpena, Eduardo; McGowan, Simon J.; Blanco Kelly, Fiona; Boudry-Labis, Elise; Dieux-Coeslier, Anne; Harrison, Rachel; Johnson, Diana; Lachlan, Katherine; Morton, Jenny E. V.; Stewart, Helen; Vasudevan, Pradeep; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Baranano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Roisin; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A.; Gabriel, Melissa K.; Rossi, Mari; Fitzpatrick, David R.; Wilkie, Andrew O. M.; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A. Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G.; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J.; Juusola, Jane; Monaghan, Kristin G.; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske Share Save
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J.; Atique, Rodrigo; Bertola, Debora R.; Cunningham, Michael L.; Gustafson, Jonas A.; Johnson, David; Morton, Jenny E., V; Passos-Bueno, Maria Rita; Timberlake, Andrew T.; Lifton, Richard P.; Wall, Steven A.; Twigg, Stephen R. F.; Maire, Pascal; Wilkie, Andrew O. M. Share Save
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E., V; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boyadjiev, Simeon A.; Wilkie, Andrew O. M. Share Save
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas Tolchin, Dara; Yeager, Jessica P.; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian A.; Haseeb, Abdul; Angelozzi, Marco; Santen, G. W. E.; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Kuechler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; Van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian D.; Krock, Bryan L.; Pechter, Kieran B.; Arkader, Alexandre; Medne, Livija; DeChene, Elizabeth T.; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O. M.; Suri, Mohnish; Foulds, Nicola; Begtrup, Amber; Henderson, Lindsay B.; Forster, Cara; Reed, Patrick; McDonald, Marie T.; McConkie-Rosell, Allyn; Thevenon, Julien; Le Tanno, Pauline; Coutton, Charles; Tsai, Anne C. H.; Stewart, Sarah; Maver, Ales; Gorazd, Rudolf; Pichon, Olivier; Nizon, Mathilde; Cogne, Benjamin; Isidor, Bertrand; Martin-Coignard, Dominique; Stoeva, Radka; Lefebvre, Veronique; Le Caignec, Cedric Share Save
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert-Desurmont, Stephanie; Bardel, Claire; Buisine, Marie-Pierre; Calpena, Eduardo; Capri, Yline; Galbany, Jordi Corominas; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Levy, Jonathan; Lecoquierre, Francois; Lindenbaum, Pierre; Pichon, Olivier; Rollat-Farnier, Pierre-Antoine; Simonet, Thomas; Saugier-Veber, Pascale; Tabet, Anne-Claude; Toutain, Annick; Wilkie, Andrew O. M.; Lesca, Gaetan; Sanlaville, Damien; Nicolas, Gael; Schluth-Bolard, Caroline Share Save
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis Goos, Jacqueline A. C.; Vogel, Walter K.; Mlcochova, Hana; Millard, Christopher J.; Esfandiari, Elahe; Selman, Wisam H.; Calpena, Eduardo; Koelling, Nils; Carpenter, Evan L.; Swagemakers, Sigrid M. A.; van Der Spek, Peter J.; Filtz, Theresa M.; Schwabe, John W. R.; Iwaniec, Urszula T.; Mathijssen, Irene M. J.; Leid, Mark; Twigg, Stephen R. F. Share Save
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder Calpena, Eduardo; Hervieu, Alexia; Kaserer, Teresa; Swagemakers, Sigrid M. A.; Goos, Jacqueline A. C.; Popoola, Olajumoke; Ortiz-Ruiz, Maria Jesus; Barbaro-Dieber, Tina; Bownass, Lucy; Brilstra, Eva H.; Brimble, Elise; Foulds, Nicola; Grebe, Theresa A.; Harder, Aster V. E.; Lees, Melissa M.; Monaghan, Kristin G.; Newbury-Ecob, Ruth A.; Ong, Kai-Ren; Osio, Deborah; Santos, Francis Jeshira Reynoso; Ruzhnikov, Maura R. Z.; Telegrafi, Aida; van Binsbergen, Ellen; van Dooren, Marieke F.; van der Spek, Peter J.; Blagg, Julian; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Clarke, Paul A.; Wilkie, Andrew O. M. Share Save
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane Share Save
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