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.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

GENOME MEDICINE

IF11.2

2023-11-0913

OAAI

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.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

GENETICS IN MEDICINE

IF6.2

2023-09-014

OAAI

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-12-212

OAAI

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

GENETICS IN MEDICINE

IF6.2

2022-12-013

OAAI

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.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-04-0114

OAAI

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

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

GENETICS IN MEDICINE

IF6.2

2021-12-0117

OAAI

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

HUMAN MUTATION

IF3.7

2021-05-164

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

HUMAN MUTATION

IF3.7

2021-03-0136

OAAI

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

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-01-128

OAAI

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

GENETICS IN MEDICINE

IF6.2

2020-09-0135

OAAI

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-06-0123

OAAI

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

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

HUMAN MUTATION

IF3.7

2019-07-124

OAAI

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

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

HUMAN MOLECULAR GENETICS

IF3.2

2019-04-0324

OAAI

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-04-0145

OAAI

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.

Eduardo Calpena

个人简介

教育背景

工作经历

荣誉奖项

研究方向