未登录 分享 收藏
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres 在澳大利亚家族性癌症中心的国家级审查中确定的乳腺癌风险变异的不可识别的可操作性 Fortuno, Cristina; Cops, Elisa J.; Davidson, Aimee L.; Hadler, Johanna; Innella, Giovanni; Mckenzie, Maddison E.; Parsons, Michael; Campbell, Ainsley M.; Dubowsky, Andrew; Fargas, Verna; Field, Michael J.; Mar Fan, Helen G.; Nichols, Cassandra B.; Poplawski, Nicola K.; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; Mcphillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A.; Spurdle, Amanda B. 分享 收藏
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns 表观基因组新生儿筛查澳大利亚新生儿的智力障碍和自闭症特征 Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J.; Godler, David E. 分享 收藏
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析 Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony 分享 收藏
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers Joo, Jihoon E.; Mahmood, Khalid; Walker, Romy; Georgeson, Peter; Candiloro, Ida; Clendenning, Mark; Como, Julia; Joseland, Sharelle; Preston, Susan; Graversen, Lise; Wilding, Mathilda; Field, Michael; Lemon, Michelle; Wakeling, Janette; Marfan, Helen; Susman, Rachel; Isbister, Joanne; Edwards, Emma; Bowman, Michelle; Kirk, Judy; Ip, Emilia; McKay, Lynne; Antill, Yoland; Hopper, John L.; Boussioutas, Alex; Macrae, Finlay A.; Dobrovic, Alexander; Jenkins, Mark A.; Rosty, Christophe; Winship, Ingrid M.; Buchanan, Daniel D. 分享 收藏
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation PRDM1 DNA结合锌指结构域是正常肢体发育所必需的，在分裂的手/脚畸形中被破坏 Truong, Brittany T.; Shull, Lomeli C.; Lencer, Ezra; Bend, Eric G.; Field, Michael; Blue, Elizabeth E.; Bamshad, Michael J.; Skinner, Cindy; Everman, David; Schwartz, Charles E.; Flanagan-Steet, Heather; Artinger, Kristin B. 分享 收藏
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare 澳大利亚基因组学: 一项为期5年的国家计划的成果，以加速基因组学在医疗保健中的整合 Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L.; Goranitis, Ilias; Spurdle, Amanda B.; Hansen, David P.; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J.; Scott, Hamish S.; Thorne, Natalie; Ward, Robyn L.; Dinger, Marcel E.; Best, Stephanie; Long, Janet C.; Grimmond, Sean M.; Pearson, John; Waddell, Nicola; Barnett, Christopher P.; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B.; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J.; Lockhart, Paul J.; Lunke, Sebastian; Mallett, Andrew J.; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E.; Semsarian, Christopher; Simons, Cas; Thomas, David M.; Thorburn, David R.; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T.; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael CJ.; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H.; Christodoulou, John; North, Kathryn N. 分享 收藏
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition 功能和临床研究揭示了CLCN4-related神经发育状况的病理生理复杂性 Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. 分享 收藏
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Ewans, Lisa J.; Minoche, Andre E.; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Ades, Lesley C.; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P.; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F.; Cowley, Mark J.; Dinger, Marcel E.; Roscioli, Tony 分享 收藏
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. 分享 收藏
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability X连锁智障家庭的基因组和基因表达分析揭示了不同类型的致病非编码变异 Field, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding-Byth, Tracy; Carroll, Renee; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, Elizabeth E.; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A. 分享 收藏
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility 在澳大利亚实施遗传性癌症易感性的基因管理: 就具有临床效用的基因达成共识 Tudini, Emma; Davidson, Aimee L.; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda; Susman, Rachel; Townshend, Sharron; Trainer, Alison H.; Tucker, Katherine M.; Mitchell, Gillian; James, Paul A.; Ward, Robyn L.; Fan, Helen Mar; Poplawski, Nicola K.; Spurdle, Amanda B. 分享 收藏
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders Baker, Emma K.; Butler, Merlin G.; Hartin, Samantha N.; Ling, Ling; Minh Bui; Francis, David; Rogers, Carolyn; Field, Michael J.; Slee, Jennie; Gamage, Dinusha; Amor, David J.; Godler, David E. 分享 收藏
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome Baker, Emma K.; Arpone, Marta; Kraan, Claudine; Minh Bui; Rogers, Carolyn; Field, Michael; Bretherton, Lesley; Ling, Ling; Ure, Alexandra; Cohen, Jonathan; Hunter, Matthew F.; Santa Maria, Lorena; Faundes, Victor; Curotto, Bianca; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Alliende, Angelica; Amor, David J.; Godler, David E. 分享 收藏
分享 收藏
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome 与脆性X综合征的镶嵌相关的智力功能和行为特征 Baker, Emma K.; Arpone, Marta; Vera, Solange Aliaga; Bretherton, Lesley; Ure, Alexandra; Kraan, Claudine M.; Bui, Minh; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael J.; Cohen, Jonathan; Santa Maria, Lorena; Faundes, Victor; Curotto, Bianca; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Alliende, Angelica M.; Amor, David J.; Godler, David E. 分享 收藏
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 男性脆性X综合征患者全突变等位基因的不完全沉默与自闭症特征相关 Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Minh Bui; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa Maria, Lorena; Faundes, Victor; Curotto, Bianca; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Alliende, Angelica M.; Amor, David J.; Godler, David E. 分享 收藏
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Ewans, Lisa J.; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin P.; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michael; Dinger, Marcel E.; Buckley, Michael F.; Cowley, Mark J.; Roscioli, Tony 分享 收藏
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M.; Christie, Louise; Corbett, Mark A.; Juusola, Jane; Friend, Kathryn L.; Kirmse, Brian M.; Gecz, Jozef; Field, Michael; Orlowski, John 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
