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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S. 分享 收藏
Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma (vol 1, pg 840, 2020) Tamayo-Orrego, Lukas; Gallo, David; Racicot, Frederic; Bemmo, Amandine; Mohan, Sushmetha; Ho, Brandon; Salameh, Samer; Hoang, Trang; Jackson, Andrew P.; Brown, Grant W.; Charron, Frederic 分享 收藏
DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain Zhang, Jing; Bellani, Marina A.; James, Ryan C.; Pokharel, Durga; Zhang, Yongqing; Reynolds, John J.; McNee, Gavin S.; Jackson, Andrew P.; Stewart, Grant S.; Seidman, Michael M. 分享 收藏
Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma Tamayo-Orrego, Lukas; Gallo, David; Racicot, Frederic; Bemmo, Amandine; Mohan, Sushmetha; Ho, Brandon; Salameh, Samer; Trang Hoang; Jackson, Andrew P.; Brown, Grant W.; Charron, Frederic 分享 收藏
Defining the clinical phenotype of Saul-Wilson syndrome 定义saul-wilson综合征的临床表型 Ferreira, Carlos R.; Zein, Wadih M.; Huryn, Laryssa A.; Merker, Andrea; Berger, Seth I.; Wilson, William G.; Tiller, George E.; Wolfe, Lynne A.; Merideth, Melissa; Carvalho, Daniel R.; Duker, Angela L.; Bratke, Heiko; Haug, Marte Gjol; Rohena, Luis; Hove, Hanne B.; Xia, Zhi-Jie; Ng, Bobby G.; Freeze, Hudson H.; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L.; Tham, Emma; Nishimura, Gen; Phillips, John A.; Gahl, William A.; Hamid, Rizwan; Jackson, Andrew P.; Grigelioniene, Giedre; Bober, Michael B. 分享 收藏
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome Knapp, Karen M.; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G.; Jackson, Andrew P.; Ferreira, Carlos; Bicknell, Louise S. 分享 收藏
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly Hull, Sarah; Arno, Gavin; Ostergaard, Pia; Pontikos, Nikolas; Robson, Anthony G.; Webster, Andrew R.; Hogg, Chris R.; Wright, Genevieve A.; Henderson, Robert H. H.; Martin, Carol-Anne; Jackson, Andrew P.; Mansour, Sahar; Moore, Anthony T.; Michaelides, Michel 分享 收藏
Biallelic variants in DNA2 cause microcephalic primordial dwarfism Tarnauskaite, Zygimante; Bicknell, Louise S.; Marsh, Joseph A.; Murray, Jennie E.; Parry, David A.; Logan, Clare, V; Bober, Michael B.; deSilva, Deepthi C.; Duker, Angela L.; Sillence, David; Wise, Carol; Jackson, Andrew P.; Murina, Olga; Reijns, Martin A. M. 分享 收藏
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy ITPase缺乏导致致命的婴儿扩张型心肌病的Martsolf样综合征 Handley, Mark T.; Reddy, Kaalak; Wills, Jimi; Rosser, Elisabeth; Kamath, Archith; Halachev, Mihail; Falkous, Gavin; Williams, Denise; Cox, Phillip; Meynert, Alison; Raymond, Eleanor S.; Morrison, Harris; Brown, Stephen; Allan, Emma; Aligianis, Irene; Jackson, Andrew P.; Ramsahoye, Bernard H.; von Kriegsheim, Alex; Taylor, Robert W.; Finch, Andrew J.; FitzPatrick, David R. 分享 收藏
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Burrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan 分享 收藏
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume TP53的低频变异对头围和颅内容积有很大影响 Haworth, Simon; Shapland, Chin Yang; Hayward, Caroline; Prins, Bram P.; Felix, Janine F.; Medina-Gomez, Carolina; Rivadeneira, Fernando; Wang, Carol; Ahluwalia, Tarunveer S.; Vrijheid, Martine; Guxens, Monica; Sunyer, Jordi; Tachmazidou, Ioanna; Walter, Klaudia; Iotchkova, Valentina; Jackson, Andrew; Cleal, Louise; Huffmann, Jennifer; Min, Josine L.; Sass, Laerke; Timmers, Paul R. H. J.; Al Turki, Saeed; Anderson, Carl A.; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Bala, Senduran; Barrett, Jeffrey C.; Barroso, Ines; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick F.; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Charlton, Ruth; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebahattin; Clapham, Peter; Clement, Gail; Coates, Guy; Cocca, Massimiliano; Collier, David A.; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Danecek, Petr; Day, Ian N. M.; Day-Williams, Aaron; Dominiczak, Anna; Down, Thomas; Du, Yuanping; Dunham, Ian; Durbin, Richard; Edkins, Sarah; Ekong, Rosemary; Ellis, Peter; Evans, David M.; Farooqi, I. Sadaf; Fitzpatrick, David R.; Flicek, Paul; Floyd, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Gaunt, Tom R.; Geihs, Matthias; Geschwind, Daniel; Greenwood, Celia M. T.; Griffin, Heather; Grozeva, Detelina; Guo, Xiaosen; Guo, Xueqin; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey E.; Holmans, Peter; Howie, Bryan; Huang, Jie; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hurles, Matthew E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Joyce, Chris; Karczewski, Konrad J.; Kaye, Jane; Keane, Thomas; Kemp, John P.; Kennedy, Karen; Kent, Alastair; Keogh, Julia; Khawaja, Farrah; van Kogelenberg, Margriet; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Li, Rui; Li, Yingrui; Liang, Jieqin; Lin, Hong; Liu, Ryan; Lonnqvist, Jouko; Lopes, Luis R.; Lopes, Margarida; MacArthur, Daniel G.; Mangino, Massimo; Marchini, Jonathan; Marenne, Gaelle; Maslen, John; Mathieson, Iain; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew M.; McKechanie, Andrew G.; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Migone, Nicola; Mitchison, Hannah M.; Moayyeri, Alireza; Morris, Andrew; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael C.; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Payne, Stewart J.; Perry, John R. B.; Pietilainen, Olli; Plagnol, Vincent; Pollitt, Rebecca C.; Porteous, David J.; Povey, Sue; Quail, Michael A.; Quaye, Lydia; Raymond, F. Lucy; Rehnstrom, Karola; Richards, J. Brent; Ridout, Cheryl K.; Ring, Susan; Ritchie, Graham R. S.; Roberts, Nicola; Robinson, Rachel L.; Savage, David B.; Scambler, Peter; Schiffels, Stephan; Schmidts, Miriam; Schoenmakers, Nadia; Scott, Richard H.; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shaw, Adam; Shihab, Hashem A.; Shin, So-Youn; Skuse, David; Small, Kerrin S.; Smee, Carol; Smith, Blair H.; Soranzo, Nicole; Southam, Lorraine; Spasic-Boskovic, Olivera; Spector, Timothy D.; St Clair, David; Stalker, Jim; Stevens, Elizabeth; Sun, Jianping; Surdulescu, Gabriela; Suvisaari, Jaana; Syrris, Petros; Taylor, Rohan; Tian, Jing; Tobin, Martin D.; Valdes, Ana M.; Vandersteen, Anthony M.; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walters, James T. R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Eleanor; Whyte, Tamieka; Williams, Hywel J.; Williamson, Kathleen A.; Wilson, Crispian; Wilson, Scott G.; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zhang, Feng; Zhang, Pingbo; Zheng, Hou-Feng; Smith, George Davey; Fisher, Simon E.; Wilson, James F.; Cole, Tim J.; Fernandez-Orth, Dietmar; Bonnelykke, Klaus; Bisgaard, Hans; Pennell, Craig E.; Jaddoe, Vincent W. V.; Dedoussis, George; Timpson, Nicholas; Zeggini, Eleftheria; Vitart, Veronique; St Pourcain, Beate 分享 收藏
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Logan, Clare, V; Murray, Jennie E.; Parry, David A.; Robertson, Andrea; Bellelli, Roberto; Tarnauskaite, Zygimante; Challis, Rachel; Cleal, Louise; Bore, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Ines; Basel, Donald; Bicknell, Louise S.; Goe, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E.; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A.; Morrissey, Rose; Murphy, Nuala; Netchine, Irene; O'connell, Susan M.; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A.; Sherlock, Mark; Syverson, Erin; White, Perrin C.; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B.; Semple, Robert K.; Boulton, Simon J.; Rios, Jonathan J.; Jackson, Andrew P. 分享 收藏
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions Heyn, Patricia; Logan, Clare V.; Fluteau, Adeline; Challis, Rachel C.; Auchynnikava, Tatsiana; Martin, Carol-Anne; Marsh, Joseph A.; Taglini, Francesca; Kilanowski, Fiona; Parry, David A.; Cormier-Daire, Valerie; Fong, Chin-To; Gibson, Kate; Hwa, Vivian; Ibanez, Lourdes; Robertson, Stephen P.; Sebastiani, Giorgia; Rappsilber, Juri; Allshire, Robin C.; Reijns, Martin A. M.; Dauber, Andrew; Sproul, Duncan; Jackson, Andrew P. 分享 收藏
Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin Hiller, Bjoern; Hoppe, Anja; Haase, Christa; Hiller, Christina; Schubert, Nadja; Mueller, Werner; Reijns, Martin A. M.; Jackson, Andrew P.; Kunkel, Thomas A.; Wenzel, Joerg; Behrendt, Rayk; Roers, Axel 分享 收藏
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Ferreira, Carlos R.; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A.; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G.; Logan, Clare V.; Wolfe, Lynne A.; Solomon, Benjamin D.; Cho, Megan T.; Douglas, Ganka; Carvalho, Daniel R.; Bratke, Heiko; Haug, Marte Gjol; Phillips, Jennifer B.; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjo, Anna; Duker, Angela L.; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J.; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zoe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M.; Phillips, John A., III; Tiller, George E.; Wilson, William G.; Hamid, Rizwan; Malicdan, May C. V.; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B.; Gahl, William A.; Freeze, Hudson H. 分享 收藏
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome Llorens-Agost, Marta; Luessing, Janna; van Beneden, Amandine; Eykelenboom, John; O'Reilly, Dawn; Bicknell, Louise S.; Reynolds, John J.; van Koegelenberg, Marianne; Hurles, Matthew E.; Brady, Angela F.; Jackson, Andrew P.; Stewart, Grant S.; Lowndes, Noel F. 分享 收藏
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Martin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A. Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; GOSgene; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Stabej, Polona Le Quesne; Malallah, Asam Jassim; Nuernberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Goekhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesais, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P. 分享 收藏
RNase H2, mutated in Aicardi-Goutieres syndrome, promotes LINE-1 retrotransposition Benitez-Guijarro, Maria; Lopez-Ruiz, Cesar; Tarnauskait, Zygimante; Murina, Olga; Mohammad, Mahwish Mian; Williams, Thomas C.; Fluteau, Adeline; Sanchez, Laura; Vilar-Astasio, Raquel; Garcia-Canadas, Marta; Cano, David; Kempen, Marie-Jeanne H. C.; Sanchez-Pozo, Antonio; Heras, Sara R.; Jackson, Andrew P.; Reijns, Martin A. M.; Garcia-Perez, Jose L. 分享 收藏
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