未登录 Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C. 分享 收藏
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty 患有生长和青春期体质延迟的患者中MC3R有害变体的患病率 Duckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen 分享 收藏
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland 英国和爱尔兰罕见儿科疾病的基因组诊断 Wright, Caroline F.; Campbell, Patrick; Eberhardt, Ruth Y.; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J.; Chundru, V. Kartik; Lindsay, Sarah J.; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E.; Middleton, Anna; Foreman, Julia; Hobson, Rachel J.; Parker, Michael J.; Martin, Hilary C.; FitzPatrick, David R.; Hurles, Matthew E.; Firth, Helen V. 分享 收藏
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders Gardner, Eugene J.; Sifrim, Alejandro; Lindsay, Sarah J.; Prigmore, Elena; Rajan, Diana; Danecek, Petr; Gallone, Giuseppe; Eberhardt, Ruth Y.; Martin, Hilary C.; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen, V; Hurles, Matthew E. 分享 收藏
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis Mone, F.; Eberhardt, R. Y.; Hurles, M. E.; Mcmullan, D. J.; Maher, E. R.; Lord, J.; Chitty, L. S.; Dempsey, E.; Homfray, T.; Giordano, J. L.; Wapner, R. J.; Sun, L.; Sparks, T. N.; Norton, M. E.; Kilby, M. D. 分享 收藏
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms MEF2C上游的非编码区变异通过三种不同的功能丧失机制导致严重的发育障碍 Wright, Caroline F.; Quaife, Nicholas M.; Ramos-Hernandez, Laura; Danecek, Petr; Ferla, Matteo P.; Samocha, Kaitlin E.; Kaplanis, Joanna; Gardner, Eugene J.; Eberhardt, Ruth Y.; Chao, Katherine R.; Karczewski, Konrad J.; Morales, Joannella; Gallone, Giuseppe; Balasubramanian, Meena; Banka, Siddharth; Gompertz, Lianne; Kerr, Bronwyn; Kirby, Amelia; Lynch, Sally A.; Morton, Jenny E., V; Pinz, Hailey; Sansbury, Francis H.; Stewart, Helen; Zuccarelli, Britton D.; Cook, Stuart A.; Taylor, Jenny C.; Juusola, Jane; Retterer, Kyle; Firth, Helen, V; Hurles, Matthew E.; Lara-Pezzi, Enrique; Barton, Paul J. R.; Whiffin, Nicola 分享 收藏
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The contribution of X-linked coding variation to severe developmental disorders Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V.; Hurles, Matthew E. 分享 收藏
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review Mone, F.; Eberhardt, R. Y.; Morris, R. K.; Hurles, M. E.; McMullan, D. J.; Maher, E. R.; Lord, J.; Chitty, L. S.; Giordano, J. L.; Wapner, R. J.; Kilby, M. D. 分享 收藏
Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study Lord, Jenny; McMullan, Dominic J.; Eberhardt, Ruth Y.; Rinck, Gabriele; Hamilton, Susan J.; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K.; Carey, Georgina K.; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R.; Chandler, Kate E.; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L.; Gardiner, Carol; Henderson, Alex; Holden, Simon T.; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A.; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W.; Ramsden, Simon C.; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J.; Vasudevan, Pradeep C.; Weber, Astrid P.; Wellesley, Diana G.; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H.; Kilby, Mark D.; Chitty, Lyn S.; Hurles, Matthew E.; Maher, Eamonn R. 分享 收藏
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies 通过三外显子组测序 (ES) 进行分子尸检，并在产前发现结构异常的胎儿和新生儿中进行尸检 Quinlan-Jones, Elizabeth; Lord, Jenny; Williams, Denise; Hamilton, Sue; Marton, Tamas; Eberhardt, Ruth Y.; Rinck, Gabriele; Prigmore, Elena; Keelagher, Rebecca; McMullan, Dominic J.; Maher, Eamonn R.; Hurles, Matthew E.; Kilby, Mark D. 分享 收藏
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study 超声检测胎儿结构异常的产前外显子组测序分析 (PAGE): 一项队列研究 Lord, Jenny; McMullan, Dominic J.; Eberhardt, Ruth Y.; Rinck, Gabriele; Hamilton, Susan J.; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K.; Carey, Georgina K.; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R.; Chandler, Kate E.; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L.; Gardiner, Carol; Henderson, Alex; Holden, Simon T.; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A.; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W.; Ramsden, Simon C.; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J.; Vasudevan, Pradeep C.; Weber, Astrid P.; Wellesley, Diana G.; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H.; Kilby, Mark D.; Chitty, Lyn S.; Hurles, Matthew E.; Maher, Eamonn R.; Bateman, Mark; Campbell, Carolyn; Campbell, Jenni; Carey, Georgina; Cohen, Kelly; Collingwood, Emma; Constantinou, Panayiotis; Delmege, Catherine; Ellis, Richard; Evans, Jerry; Everett, Thomas; Pinto, Clare Ferreira; Forrester, Natalie; Fowler, Emma; Gardiner, Carol; Hamilton, Susan; Healey, Karen; Hudson, Rebecca; Marton, Tamas; Mehta, Sarju; Park, Soo-Mi; Prigmore, Elena; Quarrell, Oliver; Ramsden, Simon; Rowland, Jayne; Steer, James; Taylor, Emma Jane; Wilson, Elizabeth 分享 收藏
The Pfam protein families database: towards a more sustainable future Pfam蛋白质家族数据库: 迈向更可持续的未来 Finn, Robert D.; Coggill, Penelope; Eberhardt, Ruth Y.; Eddy, Sean R.; Mistry, Jaina; Mitchell, Alex L.; Potter, Simon C.; Punta, Marco; Qureshi, Matloob; Sangrador-Vegas, Amaia; Salazar, Gustavo A.; Tate, John; Bateman, Alex 分享 收藏
Rfam 12.0: updates to the RNA families database Nawrocki, Eric P.; Burge, Sarah W.; Bateman, Alex; Daub, Jennifer; Eberhardt, Ruth Y.; Eddy, Sean R.; Floden, Evan W.; Gardner, Paul P.; Jones, Thomas A.; Tate, John; Finn, Robert D. 分享 收藏
Pfam: the protein families database Finn, Robert D.; Bateman, Alex; Clements, Jody; Coggill, Penelope; Eberhardt, Ruth Y.; Eddy, Sean R.; Heger, Andreas; Hetherington, Kirstie; Holm, Liisa; Mistry, Jaina; Sonnhammer, Erik L. L.; Tate, John; Punta, Marco 分享 收藏
The challenge of increasing Pfam coverage of the human proteome (vol 2013, bat023, 2013) Mistry, Jaina; Coggill, Penny; Eberhardt, Ruth Y.; Deiana, Antonio; Giansanti, Andrea; Finn, Robert D.; Bateman, Alex; Punta, Marco 分享 收藏
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