학술논문
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'학술논문'
에서 검색결과 63건 | 목록
1~20
Academic Journal
Amy Frost; Aine Kelly; Michelle Bishop; Danielle Bogue; Ellen Copson; Lianne Gompertz; Eleanor Hay; Jude Hayward; Emile Hendriks; Terri McVeigh; Siobhan Simpson; Kate Tatton-Brown
BMC Medical Education, Vol 24, Iss 1, Pp 1-12 (2024)
Academic Journal
Journal of Genetic Counseling. 33:222-231
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. 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Christopher; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; 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. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; 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. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Oral Presentations. :A6.1-A6
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
Academic Journal
Danielle Bogue; Eleanor Hay; Emile Hendriks; Amy Frost; Áine Kelly; Liam King; GeNotes Authors; Lianne Gompertz; Melody Redman; Dawn Taroni; Michelle Bishop; Kate Tatton-Brown
Paediatric Educator’s Special Interest Group. :A324.1-A324
Academic Journal
Lynette G. Sadleir; Emily I. Mountier; Deepak Gill; Suzanne Davis; Charuta Joshi; Catherine DeVile; Manju A. Kurian; Simone Mandelstam; Elaine Wirrell; Katherine C. Nickels; Hema R. Murali; Gemma Carvill; Candace T. Myers; Heather C. Mefford; Ingrid E. Scheffer; A. Paul Bevan; Abhijit Dixit; Abigail Pridham; Adrian R. Tivey; Ajoy Sarkar; Alan Donaldson; Alan Fryer; Alejandro Sifrim; Alex Henderson; Alex Magee; Alexis Duncan; Alison Kraus; Alison Male; Alison Ross; Amanda Collins; Anand Saggar; Andrea Coates; Andrea Nemeth; Andrew Fry; Andrew Green; Andrew Jackson; Andrew Norman; Angela Barnicoat; Angela Brady; Angela Douglas; Angus Clarke; Angus Dobbie; Ann Selby; Anna Middleton; Anne Lampe; Anneke Seller; Annie Procter; Karenza Evans; Anthony Vandersteen; Astrid Weber; Audrey Smith; Audrey Torokwa; Beckie Kaemba; Becky Treacy; Beiyuan Fu; Ben Hutton; Birgitta Bernhard; Bronwyn Kerr; Bruce Castle; Carina Donnelly; Carol Gardiner; Carol Scott; Carole Brewer; Caroline F. Wright; Caroline Langman; Caroline Ogilvie; Caroline Pottinger; Carolyn Tysoe; Cat Taylor; Catherine McWilliam; Charles Shaw-Smith; Charu Deshpande; Cheryl Longman; Cheryl Sequeira; Chirag Patel; Chris Bennett; Chris Nellåker; Christopher Wragg; Claire Kirk; Claire Turner; Daniel King; Daniel M. Barrett; Daniel Perrett; Daniela T. Pilz; Danielle Walker; David Baty; David Bohanna; David Bourn; David Goudie; David J. Bunyan; David Jones; David Moore; David R. FitzPatrick; Debbie Rice; Debbie Shears; Deirdre Cilliers; Deirdre Donnelly; Denise Williams; Derek Lim; Dhavendra Kumar; Emma McCann; Dian Donnai; Diana Baralle; Diana Johnson; Diana Rajan; Diana Wellesley; Dominic J McMullan; Douglas Simpkin; Dragana Josifova; Dylan de Vries; Eamonn Sheridan; Eddy Maher; Edward Blair; Eileen Roberts; Elena Chatzimichali; Elena Prigmore; Elisabeth Rosser; Elizabeth Jones; Elizabeth Sweeney; Emily Wilkinson; Emma Gray; Pipelines Staff; Emma Hobson; Emma Kivuva; Emma Miles; Emma Shearing; Emma Wakeling; Esther Kinning; Eugene Bragin; Eve L. Coomber; Fentang Yang; Fiona Connell; Fiona Stewart; Frances Elmslie; Frances Flinter; G. Jawahar Swaminathan; Gail Kirby; Gareth Cross; Gemma Devlin; Geoff Woods; Georgina Hollingsworth; Gillian Roberts; Gordon Lowther; Harinder Gill; Hayley Archer; Helen Cox; Helen Firth; Helen Kingston; Helen Murphy; Helen Stewart; Helen V. Firth; Hellen Purnell; Hood Mugalaasi; Ian Ellis; Ingrid Scurr; Ingrid Simonic; Irina Colgiu; Jacqueline Eason; Jana Awada; Jane Hurst; Jeffrey C. Barrett; Jenny Morton; Jenny Thomson; Jeremy McRae; Jill Clayton-Smith; Joan Paterson; Joanna Jarvis; Joanna Kaplanis; Joanna Poulton; John Burn; John Burton; John Dean; John Tolmie; Jonathan Berg; Jonathan Roberts; Jonathon Waters; Josh Randall; Judith Goodship; Julia Rankin; Julian Sampson; Julie Phipps; Julie Vogt; Kai-Ren Ong; Karen Marks; Kate Brunstrom; Kate Chandler; Kate Tatton-Brown; Kath Smith; Katherine I. Morley; Katherine Lachlan; I. Karen Temple; Katherine Martin; Katrina Prescott; Kay Metcalfe; Kirsten McKay; Kirsty Ambridge; Lara Cresswell; Laura E. Mason; Laura Yates; Leema Robert; Lily Islam; Linda Sneddon; Lisa Bradley; Liu He; Lorraine Gaunt; Louise Bourdon; Louise Brueton; Louise Nevitt; Louise Wilson; Lucy Harrison; Lucy Hilyard; Lucy Jenkins; Lucy Raymond; Lynn Greenhalgh; Marc Tischkowitz; Margo Whiteford; Margriet van Kogelenberg; Maria Bitner-Glindzicz; Mariella D’Alessandro; Martin Pollard; Matthew E. Hurles; Meena Balasubramanian; Melissa Lees; Melita Irving; Meriel McEntagart; Mervyn Humphreys; Michael Parker; Michael Wright; Michael Yau; Miranda Splitt; Miranda Squires; Mohnish Suri; Mohsan Alvi; Moira Blyth; Morag N. Collinson; Munaza Ahmed; Muriel Holder; Nadia Akawi; Natalie Canham; Neeti Ghali; Netravathi Krishnappa; Nicola Cooper; Nicola Foulds; Nicola Ragge; Nicola Williams; Nigel P. Carter; Nora Shannon; Norman Pratt; Oliver Quarrell; Paul Batstone; Paul Roberts; Peter Ellis; Peter Turnpenny; Philip Greene; Philip Jones; Pradeep Vasudevan; Rachel Harrison; Raheleh Rahbari; Ray Miller; Richard Fisher; Richard Gibbons; Richard Sandford; Richard Scott; Rob Andrews; Rohan Taylor; Roldan Singzon; Rose Hawkins; Rosemarie Davidson; Rosemary Kelsell; Rosie O’Shea; Ruby Banerjee; Ruth Armstrong; Ruth McGowan; Ruth Newbury-Ecob; Saba Sharif; Mark Tein; Saeed Al-Turki; Sahar Mansour; Sally Ann Lynch; Sally Davies; Sandra Kazembe; Sandra Louzada Gomes Pereira; Sara Widaa; Sarah Edkins; Sarah Everest; Sarah Hewitt; Sarah Smithson; Sarah Wallwark; Sarah Wilcox; Sarju Mehta; Sebastian S. Gerety; Shalaka Samant; Shane McKee; Shehla Mohammed; Shelagh Joss; Sian Ellard; Sian Morgan; Siddhartha Banka; Simon Brent; Simon Holden; Sofia Douzgou; Soo-Mi Park; Stephen Clayton; Stephen Hellens; Stewart Payne; Stuart Aitken; Stuart Ingram; Sue Price; Susan Clasper; Susan Gribble; Susan Holder; Susan McNerlan; Susan Tomkins; Susann Schweiger; Suzannah J. Bumpstead; Swati Naik; Tabib Dabir; Tanya Bayzetinova; Tara Montgomery; Tarjinder Singh; Tessa Homfray; Tina Fendick; Tomas W. Fitzgerald; Trevor Cole; Una Maye; Uruj Anjum; Usha Kini; V. K. Ajith Kumar; Victoria Harrison; Victoria Murday; Vijaya Parthiban; Vinod Varghese; Virginia Clowes; Vivienne McConnell; Vivienne Sutton; Volker Straub; Wayne Lam; Wendy D. Jones; Yanick Crow; Zara Skitt; Zosia Miedzybrodzka
Neurology
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Academic Journal
Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Julia Rankin; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Academic Journal
Ismail, Vardha; Zachariassen, Linda; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L; Tatton Brown, Kate; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O.; Lyngby, Signe M; Pedersen, Miriam G; Desir, Julie; Bayat, Allan; Lusgaard, Maria; Guille, Matthew; Kristensen, Anders S; Baralle, Diana
Academic Journal
Sara Griffiths; Chey Loveday; Anna Zachariou; Lucy‐Ann Behan; Kate Chandler; Trevor Cole; Stefano D'Arrigo; Andrea Dieckmann; Alison Foster; James Gibney; Matthew Hunter; Donatella Milani; Chiara Pantaleoni; Edna Roche; Mark Sherlock; Amanda Springer; Susan M. White; Katrina Tatton‐Brown
American Journal of Medical Genetics Part A. 179:588-594
Academic Journal
Víctor Faundes; William G. Newman; Laura Bernardini; Natalie Canham; Jill Clayton-Smith; Bruno Dallapiccola; Sally J. Davies; Michelle K. Demos; Amy Goldman; Harinder Gill; Rachel Horton; Bronwyn Kerr; Dhavendra Kumar; Anna Lehman; Shane McKee; Jenny Morton; Michael J. Parker; Julia Rankin; Lisa Robertson; I. Karen Temple; Shelin Adam; Christèle du Souich; Alison M. Elliott; Jill Mwenifumbo; Tanya N. Nelson; Clara van Karnebeek; Jan M. Friedman; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; V.K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. . Hurles
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013
Academic Journal
In Future Healthcare Journal July 2022 9 Supplement 2:S68-S69
Periodical
Academic Journal
Morad Ansari; Gemma Poke; Quentin Ferry; Kathleen Williamson; Roland Aldridge; Alison M Meynert; Hemant Bengani; Cheng Yee Chan; Hülya Kayserili; Şahin Avci; Raoul C M Hennekam; Anne K Lampe; Egbert Redeker; Tessa Homfray; Alison Ross; Marie Falkenberg Smeland; Sahar Mansour; Michael J Parker; Jacqueline A Cook; Miranda Splitt; Richard B Fisher; Alan Fryer; Alex C Magee; Andrew Wilkie; Angela Barnicoat; Angela F Brady; Nicola S Cooper; Catherine Mercer; Charu Deshpande; Christopher P Bennett; Daniela T Pilz; Deborah Ruddy; Deirdre Cilliers; Diana S Johnson; Dragana Josifova; Elisabeth Rosser; Elizabeth M Thompson; Emma Wakeling; Esther Kinning; Fiona Stewart; Frances Flinter; Katta M Girisha; Helen Cox; Helen V Firth; Helen Kingston; Jamie S Wee; Jane A Hurst; Jill Clayton-Smith; John Tolmie; Julie Vogt; Katrina Tatton–Brown; Kate Chandler; Katrina Prescott; Louise Wilson; Mahdiyeh Behnam; Meriel McEntagart; Rosemarie Davidson; Sally-Ann Lynch; Sanjay Sisodiya; Sarju G Mehta; Shane A McKee; Shehla Mohammed; Simon Holden; Soo-Mi Park; Susan E Holder; Victoria Harrison; Vivienne McConnell; Wayne K Lam; Andrew J Green; Dian Donnai; Maria Bitner-Glindzicz; Deirdre E Donnelly; Christoffer Nellåker; Martin S Taylor; David R FitzPatrick
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Deciphering Developmental Disorders Study & Briggs, T 2021, 'The contribution of X-linked coding variation to severe developmental disorders', Nature Communications, vol. 12, no. 1, 627. https://doi.org/10.1038/s41467-020-20852-3
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Academic Journal
Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie TRM; Stegmann, Alexander PA; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana SA; Agbahovbe, Ruky; Innes, A Micheil; Au, PY Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, Andre; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H; Monroe, Glen R; van Gassen, Koen LI; van Binsbergen, Ellen; Newbury-Ecob, Ruth; Bownass, Lucy; Bader, Ingrid; Mayr, Johannes A; 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Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Norman, Andrew; O'Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; 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K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications
Nat Commun
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9
Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, L H, Nowak, C B, Douglas, J, Swoboda, K J, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S B, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E & Campeau, P M 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619. https://doi.org/10.1038/s41467-018-06014-6
Nat. Commun. 9:4619 (2018)
The DDD Study, Blok, L S, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M C, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E, Campeau, P M & Banka, S 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619, pp. 1-12. https://doi.org/10.1038/s41467-018-06014-6
Nat Commun
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9
Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, L H, Nowak, C B, Douglas, J, Swoboda, K J, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S B, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E & Campeau, P M 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619. https://doi.org/10.1038/s41467-018-06014-6
Nat. Commun. 9:4619 (2018)
The DDD Study, Blok, L S, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M C, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E, Campeau, P M & Banka, S 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619, pp. 1-12. https://doi.org/10.1038/s41467-018-06014-6
Academic Journal
Andrea Haworth; Tessa Homfray; Suzanne Drury; Rand Dubis; Meriel McEntagart; Kate Tatton Brown; Helen Savage; John Filby; Nick Lench; Eva Serra; Natalie Trump; Nayana Lahiri; Janna Kenny; Frances Elmslie; Phillip Ostrowski; Esther Dempsey; John Short; Charlene Crosby; Christine Hall; Sahar Mansour
Genetics in Medicine. 24:S226
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