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J

Jill Clayton-Smith

University of Manchester
H指数:93
被引数:2.7万

个人简介

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教育背景

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工作经历

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荣誉奖项

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-10-243
OAAI
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
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-03-014
OAAI
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
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

涉及异常肺静脉回流的临床外显子组测序功效和表型扩展

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-09-075
PRE
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.
Timing of Primary Surgery for Cleft Palate
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-08-3117
OA
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
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-08-019
OAAI
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.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-07-012
OAAI
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.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
NATURE COMMUNICATIONS
IF15.7
2022-11-0311
OAAI
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.
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
GENETICS IN MEDICINE
IF6.2
2021-12-0111
OAAI
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.
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
SCIENTIFIC REPORTS
IF3.9
2021-10-1843
OAAI
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.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders (vol 22, pg 745, 2020)
GENETICS IN MEDICINE
IF6.2
2021-10-010
OAAI
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.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0117
OAAI
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.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

ATP1A2-并ATP1A3-associated早期深度癫痫性脑病和多微回

BRAIN
IF11.7
2021-05-1040
OA
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

研究方向

暂未获取到该数据
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Graeme C. Black
H 指数:77论文数:467被引数:2.4万
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Rebecca Bromley
H 指数:35论文数:105被引数:5,609
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Gus A. Baker
H 指数:82论文数:347被引数:2.3万
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Kate Chandler
H 指数:53论文数:211被引数:1.1万
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Jill Urquhart
H 指数:40论文数:97被引数:5,445
S
Siddharth Banka
H 指数:52论文数:252被引数:9,672
S
Simon Ramsden
H 指数:34论文数:171被引数:5,153
I
I. Karen Temple
H 指数:76论文数:307被引数:1.9万
S
Sally Ann Lynch
H 指数:62论文数:351被引数:1.4万
S
Sofia Douzgou
H 指数:36论文数:134被引数:4,857