Not logged in DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism Riva, Martina; Ferreira, Sofia; Hayashi, Kotaro; Saillour, Yoann; Medvedeva, Vera P.; Honda, Takao; Hayashi, Kanehiro; Altersitz, Claire; Albadri, Shahad; Rosello, Marion; Dang, Julie; Serafini, Malo; Causeret, Frederic; Henry, Olivia J.; Roux, Charles-Joris; Bellesme, Celine; Freri, Elena; Josifova, Dragana; Parrini, Elena; Guerrini, Renzo; Del Bene, Filippo; Nakajima, Kazunori; Bahi-Buisson, Nadia; Pierani, Alessandra Share Save
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N.; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S.; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P.; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M.; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K.; Boennemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A. Share Save
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project Moore, A. Rachel; Yu, Jing; Pei, Yang; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Walker, Woolf T.; Thomas, N. Simon; Kamath, Arveen; Ibitoye, Rita; Josifova, Dragana; Wilsdon, Anna; Ross, Alison; Calder, Alistair D.; Offiah, Amaka C.; Wilkie, Andrew O. M.; Taylor, Jenny C.; Pagnamenta, Alistair T. Share Save
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera-Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A.; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Raymond, F. Lucy; Carss, Keren J. Share Save
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. Share Save
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Schon, Katherine R.; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibanez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D. S.; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Clement, Emma; Ashton, Emma; Sayer, John A.; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J.; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F.; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F. Share Save
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Pathogenic PTPN11 variants involving the poly-glutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation Martinelli, Simone; Pannone, Luca; Lissewski, Christina; Brinkmann, Julia; Flex, Elisabetta; Schanze, Denny; Calligari, Paolo; Anselmi, Massimiliano; Pantaleoni, Francesca; Canale, Viviana Claudia; Radio, Francesca Clementina; Ioannides, Adonis; Rahner, Nils; Schanze, Ina; Josifova, Dragana; Bocchinfuso, Gianfranco; Ryten, Mina; Stella, Lorenzo; Tartaglia, Marco; Zenker, Martin Share Save
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction Williamson, Kathleen A.; Hall, H. Nikki; Owen, Liusaidh J.; Livesey, Benjamin J.; Hanson, Isabel M.; Adams, G. G. W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T.; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T.; Parker, Michael; Reiff, Charlotte M.; Self, Jay; Tobias, Edward S.; Verheij, Joke B. G. M.; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A.; FitzPatrick, David R. Share Save
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics Bayat, Allan; Knaus, Alexej; Juul, Annika Wollenberg; Dukic, Dejan; Gardella, Elena; Charzewska, Agnieszka; Clement, Emma; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Horn, Denise; Horton, Rachel; Hurst, Jane A.; Josifova, Dragana; Larsen, Line H. G.; Lascelles, Karine; Obersztyn, Ewa; Pagnamenta, Alistair; Pal, Deb K.; Pendziwiat, Manuela; Ryten, Mina; Taylor, Jenny; Vogt, Julie; Weber, Yvonne; Krawitz, Peter M.; Helbig, Ingo; Kini, Usha; Moller, Rikke S. Share Save
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi Polubothu, S.; McGuire, N.; Al-Olabi, L.; Baird, W.; Bulstrode, N.; Chalker, J.; Josifova, D.; Lomas, D.; O'Hara, J.; Ong, J.; Rampling, D.; Stadnik, P.; Thomas, A.; Wedgeworth, E.; Sebire, N. J.; Kinsler, V. A. Share Save
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018) Farmery, James H. R.; Smith, Mike L.; Lynch, Andy G.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M.; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C.; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M.; Millar, Carolyn M.; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J.; Rhodes, Christopher J.; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G.; Gosal, David; Perry, David J.; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin K. S.; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J.; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S.; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. C.; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; McCarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael A.; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele P.; Makris, Mike; De Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Melanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Van Zuydam, Natalie; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas W.; Yeatman, Nigel; Roy, Noemi; Shamardina, Olga; Alavijeh, Omid S.; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul A.; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep K.; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R. Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne Share Save
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H. H.; Hurst, Jane; MacLaren, Robert E.; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A.; Wakeling, Emma; Ouwehand, Willem H.; Michaelides, Michel; Moore, Anthony T.; Webster, Andrew R.; Raymond, F. Lucy Share Save
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions Tropeano, Maria; Howley, Deirdre; Gazzellone, Matthew J.; Wilson, C. Ellie; Ahn, Joo Wook; Stavropoulos, Dimitri J.; Murphy, Clodagh M.; Eis, Peggy S.; Hatchwell, Eli; Dobson, Richard J. B.; Robertson, Dene; Holder, Muriel; Irving, Melita; Josifova, Dragana; Nehammer, Annelise; Ryten, Mina; Spain, Debbie; Pitts, Mark; Bramham, Jessica; Asherson, Philip; Curran, Sarah; Vassos, Evangelos; Breen, Gerome; Flinter, Frances; Ogilvie, Caroline Mackie; Collier, David A.; Scherer, Stephen W.; McAlonan, Grainne M.; Murphy, Declan G. Share Save
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity Josifova, Dragana J.; Monroe, Glen R.; Tessadori, Federico; de Graaff, Esther; van der Zwaag, Bert; Mehta, Sarju G.; Harakalova, Magdalena; Duran, Karen J.; Savelberg, Sanne M. C.; Nijman, Isaac J.; Jungbluth, Heinz; Hoogenraad, Casper C.; Bakkers, Jeroen; Knoers, Nine V.; Firth, Helen V.; Beales, Philip L.; van Haaften, Gijs; van Haelst, Mieke M. Share Save
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