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
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes 复发性从头MAX p.Arg60Gln变体通过c-myc靶基因的差异表达引起综合征过度生长障碍 Harris, Erica L.; Roy, Vincent; Montagne, Martin; Rose, Ailsa M. S.; Livesey, Helen; Reijnders, Margot R. F.; Hobson, Emma; Sansbury, Francis H.; Willemsen, Marjolein H.; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M.; Brunner, Han G.; Sheridan, Eamonn G.; Firth, Helen V.; Lavigne, Pierre; Poulter, James A. 分享 收藏
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis Kiss, Robert S.; Chicoine, Jarred; Khalil, Youssef; Sladek, Robert; Chen, He; Pisaturo, Alessandro; Martin, Cyril; Dale, Jessica D.; Brudenell, Tegan A.; Kamath, Archith; Kyei-Boahen, Jeffrey; Hafiane, Anouar; Daliah, Girija; Alecki, Celia; Hopes, Tayah S.; Heier, Martin; Aligianis, Irene A.; Lebrun, Jean -Jacques; Aspden, Julie; Paci, Emanuele; Kerksiek, Anja; Luetjohann, Dieter; Clayton, Peter; Wills, Jimi C.; von Kriegsheim, Alex; Nilsson, Tommy; Sheridan, Eamonn; Handley, Mark T. 分享 收藏
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Fine-scale population structure and demographic history of British Pakistanis Arciero, Elena; Dogra, Sufyan A.; Malawsky, Daniel S.; Mezzavilla, Massimo; Tsismentzoglou, Theofanis; Huang, Qin Qin; Hunt, Karen A.; Mason, Dan; Sharif, Saghira Malik; van Heel, David A.; Sheridan, Eamonn; Wright, John; Small, Neil; Carmi, Shai; Iles, Mark M.; Martin, Hilary C. 分享 收藏
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Chai, Guoliang; Webb, Alice; Li, Chen; Antaki, Danny; Lee, Sangmoon; Breuss, Martin W.; Lang, Nhi; Stanley, Valentina; Anzenberg, Paula; Yang, Xiaoxu; Marshall, Trevor; Gaffney, Patrick; Wierenga, Klaas J.; Chung, Brian Hon-Yin; Tsang, Mandy Ho-Yin; Pais, Lynn S.; Lovgren, Alysia Kern; VanNoy, Grace E.; Rehm, Heidi L.; Mirzaa, Ghayda; Leon, Eyby; Diaz, Jullianne; Neumann, Alexander; Kalverda, Arnout P.; Manfield, Iain W.; Parry, David A.; Logan, Clare, V; Johnson, Colin A.; Bonthron, David T.; Valleley, Elizabeth M. A.; Issa, Mahmoud Y.; Abdel-Ghafar, Sherif F.; Abdel-Hamid, Mohamed S.; Jennings, Patricia; Zaki, Maha S.; Sheridan, Eamonn; Gleeson, Joseph G. 分享 收藏
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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (vol 13, 22, 2020) Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏
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PEDIA: prioritization of exome data by image analysis PEDIA: 通过图像分析对外显子组数据进行优先排序 Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. 分享 收藏
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings Danyel, Magdalena; Cheng, Zhuo; Jung, Christine; Boschann, Felix; Pantel, Jean Tori; Hajjir, Nurulhuda; Floettmann, Ricarda; Schulz, Solveig; Demuth, Ilja; Sheridan, Eamonn; Mundlos, Stefan; Horn, Denise; Mensah, Martin A. 分享 收藏
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (vol 9, 1340, 2018) 全基因组关联研究确定儿童b细胞急性淋巴细胞白血病的易感位点 (第9卷，1340，2018) Vijayakrishnan, Jayaram; Studd, James; Broderick, Peter; Kinnersley, Ben; Holroyd, Amy; Law, Philip J.; Kumar, Rajiv; Allan, James M.; Harrison, Christine J.; Moorman, Anthony V.; Vora, Ajay; Roman, Eve; Rachakonda, Sivaramakrishna; Kinsey, Sally E.; Sheridan, Eamonn; Thompson, Pamela D.; Irving, Julie A.; Koehler, Rolf; Hoffmann, Per; Noethen, Markus M.; Heilmann-Heimbach, Stefanie; Joeckel, Karl-Heinz; Easton, Douglas F.; Pharaoh, Paul D. P.; Dunning, Alison M.; Peto, Julian; Canzian, Frederico; Swerdlow, Anthony; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Muir, Kenneth; Pashayan, Nora; Henderson, Brian E.; Haiman, Christopher A.; Benlloch, Sara; Schumacher, Fredrick R.; Al Olama, Ali Amin; Berndt, Sonja I.; Conti, David V.; Wiklund, Fredrik; Chanock, Stephen; Stevens, Victoria L.; Tangen, Catherine M.; Batra, Jyotsna; Clements, Judith; Gronberg, Henrik; Schleutker, Johanna; Albanes, Demetrius; Weinstein, Stephanie; Wolk, Alicja; West, Catharine; Mucci, Lorelei; Cancel-Tassin, Geraldine; Koutros, Stella; Sorensen, Karina Dalsgaard; Maehle, Lovise; Neal, David E.; Travis, Ruth C.; Hamilton, Robert J.; Ingles, Sue Ann; Rosenstein, Barry; Lu, Yong-Jie; Giles, Graham G.; Kibel, Adam S.; Vega, Ana; Kogevinas, Manolis; Penney, Kathryn L.; Park, Jong Y.; Stanford, Janet L.; Cybulski, Cezary; Nordestgaard, Borge G.; Brenner, Hermann; Maier, Christiane; Kim, Jeri; John, Esther M.; Teixeira, Manuel R.; Neuhausen, Susan L.; De Ruyck, Kim; Razack, Azad; Newcomb, Lisa F.; Lessel, Davor; Kaneva, Radka; Usmani, Nawaid; Claessens, Frank; Townsend, Paul A.; Gago-Dominguez, Manuela; Roobol, Monique J.; Menegaux, Florence; Greaves, Mel; Zimmerman, Martin; Bartram, Claus R.; Schrappe, Martin; Stanulla, Martin; Hemminki, Kari; Houlston, Richard S. 分享 收藏
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects Bonnefoy, Serge; Watson, Christopher M.; Kernohan, Kristin D.; Lemos, Moara; Hutchinson, Sebastian; Poulter, James A.; Crinnion, Laura A.; Berry, Ian; Simmonds, Jennifer; Vasudevan, Pradeep; O'Callaghan, Chris; Hirst, Robert A.; Rutman, Andrew; Huang, Lijia; Hartley, Taila; Grynspan, David; Moya, Eduardo; Li, Chunmei; Carr, Ian M.; Bonthron, David T.; Leroux, Michel; Boycott, Kym M.; Bastin, Philippe; Sheridan, Eamonn G. 分享 收藏
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Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia Vijayakrishnan, Jayaram; Studd, James; Broderick, Peter; Kinnersley, Ben; Holroyd, Amy; Law, Philip J.; Kumar, Rajiv; Allan, James M.; Harrison, Christine J.; Moorman, Anthony V.; Vora, Ajay; Roman, Eve; Rachakonda, Sivaramakrishna; Kinsey, Sally E.; Sheridan, Eamonn; Thompson, Pamela D.; Irving, Julie A.; Koehler, Rolf; Hoffmann, Per; Noethen, Markus M.; Heilmann-Heimbach, Stefanie; Joeckel, Karl-Heinz; Easton, Douglas F.; Pharaoh, Paul D. P.; Dunning, Alison M.; Peto, Julian; Canzian, Frederico; Swerdlow, Anthony; Eeles, Rosalind A.; Kote-Jarai, ZSofia; Muir, Kenneth; Pashayan, Nora; Greaves, Mel; Zimmerman, Martin; Bartram, Claus R.; Schrappe, Martin; Stanulla, Martin; Hemminki, Kari; Houlston, Richard S. 分享 收藏
DNAAF1 links heart laterality with the AAA plus ATPase RUVBL1 and ciliary intraflagellar transport Hartill, Verity L.; van de Hoek, Glenn; Patel, Mitali P.; Little, Rosie; Watson, Christopher M.; Berry, Ian R.; Shoemark, Amelia; Abdelmottaleb, Dina; Parkes, Emma; Bacchelli, Chiara; Szymanska, Katarzyna; Knoers, Nine V.; Scambler, Peter J.; Ueffing, Marius; Boldt, Karsten; Yates, Robert; Winyard, Paul J.; Adler, Beryl; Moya, Eduardo; Hattingh, Louise; Shenoy, Anil; Hogg, Claire; Sheridan, Eamonn; Roepman, Ronald; Norris, Dominic; Mitchison, Hannah M.; Giles, Rachel H.; Johnson, Colin A. 分享 收藏
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A.; Patel, Mitali P.; Robson, Evelyn; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R.; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S.; Rogers, Andrew; Rutman, Andrew; Jackson, Claire L.; Goggin, Patricia; Ollosson, Sarah; Carr, Siobhan; Walker, Woolf; Adler, Beryl; Loebinger, Michael R.; Wilson, Robert; Bush, Andrew; Williams, Hywel; Boustred, Christopher; Jenkins, Lucy; Sheridan, Eamonn; Chung, Eddie M. K.; Watson, Christopher M.; Cullup, Thomas; Lucas, Jane S.; Kenia, Priti; O'Callaghan, Christopher; King, Stephen M.; Hogg, Claire; Mitchison, Hannah M. 分享 收藏
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