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D

David Sillence

University of California System
H指数:57
被引数:1.4万

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Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)
NATURE GENETICS
IF31.8
2022-01-212
OA
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (vol 102, pg 1115, 2018)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-09-015
OAAI
Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludwig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

PLOD3的致病变异导致Stickler综合征样结缔组织病伴血管并发症

JOURNAL OF MEDICAL GENETICS
IF3.7
2019-05-2524
PREAI
Ewans, Lisa Jean; Colley, Alison; Gaston-Massuet, Carles; Gualtieri, Angelica; Cowley, Mark J.; McCabe, Mark James; Anand, Deepti; Lachke, Salil A.; Scietti, Luigi; Forneris, Federico; Zhu, Ying; Ying, Kevin; Walsh, Corrina; Kirk, Edwin P.; Miller, David; Giunta, Cecilia; Sillence, David; Dinger, Marcel; Buckley, Michael; Roscioli, Tony
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-06-0124
OAAI
Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludkig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2017-08-10179
OAAI
Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M. M. A.; Wang, Roni; Moreau, Julie; Lim, Chai K.; Szot, Justin O.; Ip, Eddie; Hughes, James N.; Sugimoto, Kotaro; Humphreys, David T.; McInerney-Leo, Aideen M.; Leo, Paul J.; Maghzal, Ghassan J.; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R.; Collins, Felicity; Sillence, David O.; Winlaw, David S.; Ho, Joshua W. K.; Guillemin, Gilles J.; Brown, Matthew A.; Kikuchi, Kazu; Thomas, Paul Q.; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L.; Sparrow, Duncan B.; Dunwoodie, Sally L.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
HUMAN MOLECULAR GENETICS
IF3.2
2015-08-2066
OAAI
Ilkovski, Biljana; Pagnamenta, Alistair T.; O'Grady, Gina L.; Kinoshita, Taroh; Howard, Malcolm F.; Lek, Monkol; Thomas, Brett; Turner, Anne; Christodoulou, John; Sillence, David; Knight, Samantha J. L.; Popitsch, Niko; Keays, David A.; Anzilotti, Consuelo; Goriely, Anne; Waddell, Leigh B.; Brilot, Fabienne; North, Kathryn N.; Kanzawa, Noriyuki; Macarthur, Daniel G.; Taylor, Jenny C.; Kini, Usha; Murakami, Yoshiko; Clarke, Nigel F.
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
LANCET
IF88.5
2013-10-01157
PREAI
Bishop, Nick; Adami, Silvano; Ahmed, S. Faisal; Anton, Jordi; Arundel, Paul; Burren, Christine P.; Devogelaer, Jean-Pierre; Hangartner, Thomas; Eva Hosszu; Lane, Joseph M.; Lorenc, Roman; Makitie, Outi; Munns, Craig F.; Paredes, Ana; Pavlov, Helene; Plotkin, Horacio; Raggio, Cathleen L.; Loreto Reyes, Maria; Schoenau, Eckhard; Semler, Oliver; Sillence, David O.; Steiner, Robert D.
Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis
HUMAN MUTATION
IF3.7
2012-05-2249
OAAI
Nizon, Mathilde; Huber, Celine; De Leonardis, Fabio; Merrina, Rodolphe; Forlino, Antonella; Fradin, Melanie; Tuysuz, Beyhan; Abu-Libdeh, Bassam Y.; Alanay, Yasemin; Albrecht, Beate; Al-Gazali, Lihadh; Basaran, Sarenur Yilmaz; Clayton-Smith, Jill; Desir, Julie; Gill, Harinder; Greally, Marie T.; Koparir, Erkan; van Maarle, Merel C.; MacKay, Sara; Mortier, Geert; Morton, Jenny; Sillence, David; Vilain, Catheline; Young, Ian; Zerres, Klaus; Le Merrer, Martine; Munnich, Arnold; Le Goff, Carine; Rossi, Antonio; Cormier-Daire, Valerie
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2011-07-01186
OAAI
Le Goff, Carine; Mahaut, Clementine; Wang, Lauren W.; Allali, Slimane; Abhyankar, Avinash; Jensen, Sacha; Zylberberg, Louise; Collod-Beroud, Gwenaelle; Bonnet, Damien; Alanay, Yasemin; Brady, Angela. F.; Cordier, Marie-Pierre; Devriendt, Koen; Genevieve, David; Kiper, Pelin Ozlem Simsek; Kitoh, Hiroshi; Krakow, Deborah; Lynch, Sally Ann; Le Merrer, Martine; Megarbane, Andre; Mortier, Geert; Odent, Sylvie; Polak, Michel; Rohrbach, Marianne; Sillence, David; Stolte-Dijkstra, Irene; Superti-Furga, Andrea; Rimoin, David L.; Topouchian, Vicken; Unger, Sheila; Zabel, Bernhard; Bole-Feysot, Christine; Nitschke, Patrick; Handford, Penny; Casanova, Jean-Laurent; Boileau, Catherine; Apte, Suneel S.; Munnich, Arnold; Cormier-Dairel, Valerie

研究方向

暂未获取到该数据
C
Craig F. Munns
H 指数:55论文数:270被引数:1.1万
R
Ravi Savarirayan
H 指数:57论文数:622被引数:1.2万
D
David Markie
H 指数:31论文数:84被引数:6,537
S
Stephen P. Robertson
H 指数:60论文数:279被引数:1.2万
J
J. Ault
H 指数:10论文数:19被引数:434
S
Stefan Mundlos
H 指数:109论文数:761被引数:4.8万
V
Valérie Cormier‐Daire
H 指数:99论文数:1,152被引数:3.4万
D
Duncan B. Sparrow
H 指数:41论文数:101被引数:5,422
A
Andreas Zankl
H 指数:36论文数:133被引数:5,671
S
Sally L. Dunwoodie
H 指数:54论文数:222被引数:9,791