Not logged in A Scoping Review of Human Teratogens and Their Impact on the Developing Brain: A Contribution From the ConcePTION Project Bluett-Duncan, M.; Adams, J.; Berkovitch, M.; Berlin, M.; Cahoon, A.; Clayton-Smith, J.; Jackson, C.; Khanom, S.; Molgaard-Nielsen, D.; Richardson, J. L.; Simms, V.; Stellfeld, M.; Winterfeld, U.; Yates, L. M.; Bromley, R. L. Share Save
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina Share Save
The use of parent-completed questionnaires to investigate developmental outcomes in large populations of children exposed to antiseizure medications in pregnancy Bluett-Duncan, Matthew; Bullen, Philip; Campbell, Ellen; Clayton-Smith, Jill; Craig, John; Garcia-Finana, Marta; Hughes, David M.; Ingham, Amy; Irwin, Beth; Jackson, Cerian; Kelly, Teresa; Morrow, James; Rushton, Sarah; Winterbottom, Janine; Wood, Amanda G.; Yates, Laura M.; Bromley, Rebecca L. Share Save
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan Share Save
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A. Share Save
Timing of Primary Surgery for Cleft Palate Gamble, Carrol; Persson, Christina; Willadsen, Elisabeth; Albery, Liz; Andersen, Helene Soegaard; Antoneli, Melissa Zattoni; Appelqvist, Malin; Aukner, Ragnhild; Bodling, Pia; Bowden, Melanie; Brunnegard, Karin; Cairns, Gillian; Calladine, Samantha; Campbell, Linsay; Clayton-Smith, Jill; Cooper, Rachael; Conroy, Elizabeth; El-Angbawi, Ahmed; Emborg, Berit Kildegaard; Wikman, Josefin Enfalt; Fitzpatrick, Beth; Fukushiro, Ana Paula; de Azevedo Bento Goncalves, Cristina Guedes; Havstam, Christina; Hvistendahl, Anne Katherine; Jorgensen, Line Dahl; Klinto, Kristina; Kvinnsland, Marit Berntsen; Larham, Catriona; Lemvik, Jorunn; Leturgie, Louise; Liljerehn, Eva; Lodge, Natalie; Lohmander, Anette; McMahon, Siobhan; Mehendale, Felicity; Miguel, Haline Coracine; Moe, Marianne; Nielsen, Joan Bogh; Nyberg, Jill; Pedersen, Nina-Helen; Phippen, Ginette; Alvarez Piazentin-Penna, Silvia Helena; Patrick, Kathryn; Pliskin, Lindsay; Rigby, Lucy; Semb, Gunvor; Southby, Lucy; Sporre, Maria; Taleman, Ann-Sofie Bjorkman; Tangstad, Jorid; Kiemle Trindade, Inge Elly; Underwood, Imogen; van Eeden, Stephanie; Westberg, Liisi Raud; Williamson, Paula Ruth; Yamashita, Renata Paciello; Munro, Kevin; Walsh, Tanya; Shaw, William Share Save
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child Bromley, Rebecca; Adab, Naghme; Bluett-Duncan, Matt; Clayton-Smith, Jill; Christensen, Jakob; Edwards, Katherine; Greenhalgh, Janette; Hill, Ruaraidh A.; Jackson, Cerian F.; Khanom, Sonia; McGinty, Ronan N.; Smith, Catrin Tudur; Pulman, Jennifer; Marson, Anthony G. Share Save
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Elgersma, Ype; van Esbroeck, Annelot C. M. Share Save
Neurodevelopment of babies born to mothers with epilepsy: A prospective observational cohort study Bromley, Rebecca; Bullen, Philip; Campbell, Ellen; Craig, John; Ingham, Amy; Irwin, Beth; Jackson, Cerain; Kelly, Teresa; Morrow, James; Rushton, Sarah; Garcia-Finana, Marta M.; Hughes, David; Winterbottom, Janine; Wood, Amanda M.; Yates, Laura; Clayton-Smith, Jill; NaME Study Grp Share Save
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Guo, Long; Salian, Smrithi; Xue, Jing-yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-min; Wei, Zhen-jie; Huening, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly F.; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Donato, Nataliya Di; Yigit, Goekhan; Yamada, Takahiro; Nishimura, Gen; Ansel, K. Mark; Wollnik, Bernd; de Angelis, Martin Hrabe; Megarbane, Andre; Rosenfeld, Jill A.; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe M. Share Save
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision Chrystal, Paul W.; Lambacher, Nils J.; Doucette, Lance P.; Bellingham, James; Schiff, Elena R.; Noel, Nicole C. L.; Li, Chunmei; Tsiropoulou, Sofia; Casey, Geoffrey A.; Zhai, Yi; Nadolski, Nathan J.; Majumder, Mohammed H.; Tagoe, Julia; D'Esposito, Fabiana; Cordeiro, Maria Francesca; Downes, Susan; Clayton-Smith, Jill; Ellingford, Jamie; Mahroo, Omar A.; Hockin, Jennifer C.; Cheetham, Michael E.; Webster, Andrew R.; Jansen, Gert; Blacque, Oliver E.; Allison, W. Ted; Au, Ping Yee Billie; MacDonald, Ian M.; Arno, Gavin; Leroux, Michel R. Share Save
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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study Luu, M.; Vabres, P.; Devilliers, H.; Loffroy, R.; Phan, A.; Martin, L.; Morice-Picard, F.; Petit, F.; Willems, M.; Bessis, D.; Jacquemont, M. L.; Maruani, A.; Chiaverini, C.; Mirault, T.; Clayton-Smith, J.; Carpentier, M.; Fleck, C.; Maurer, A.; Yousfi, M.; Parker, V. E. R.; Semple, R. K.; Bardou, M.; Faivre, L. Share Save
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders Rowlands, Charlie; Thomas, Huw B.; Lord, Jenny; Wai, Htoo A.; Arno, Gavin; Beaman, Glenda; Sergouniotis, Panagiotis; Gomes-Silva, Beatriz; Campbell, Christopher; Gossan, Nicole; Hardcastle, Claire; Webb, Kevin; O'Callaghan, Christopher; Hirst, Robert A.; Ramsden, Simon; Jones, Elizabeth; Clayton-Smith, Jill; Webster, Andrew R.; Douglas, Andrew G. L.; O'Keefe, Raymond T.; Newman, William G.; Baralle, Diana; Black, Graeme C. M.; Ellingford, Jamie M. Share Save
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders (vol 22, pg 745, 2020) Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C.; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L.; Fletcher, Tracy A.; Taylor, Rachel L.; Ellingford, Jamie M.; Newman, William D.; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I. Chris; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. Share Save
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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C.; Rice, Sarah J.; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A. Share Save
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T. Share Save
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria Vetro, Annalisa; Nielsen, Hang N.; Holm, Rikke; Hevner, Robert F.; Parrini, Elena; Powis, Zoe; Moller, Rikke S.; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaetan; Helbig, Katherine L.; Palmer, Elizabeth E.; Mei, Davide; Ballardini, Elisa; Van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J.; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M. S.; Clayton-Smith, Jill; Bigoni, Stefania; Scheffer, Ingrid E.; Dobyns, William B.; Vilsen, Bente; Guerrini, Renzo Share Save
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