학술논문

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
ㅜ	う u	ぅ	く ku	ぐ gu	す su	ず zu	つ tu	づ du	っ	ぬ nu	ふ hu	ぶ bu	ぷ pu	む mu	ゆ yu	ゅ lyu	る ru
ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	ア a	ァ	カ ka	ガ ga	サ sa	ザ za	タ ta	ダ da		ナ na	ハ ha	バ ba	パ pa	マ ma	ヤ ya	ャ lya	ラ ra	ワ wa	ヮ lwa		ン n
l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

독일어
ä	Ä	ö	Ö	ü	Ü	ß
프랑스어
á	à	Á	À	é	è	É	È	ç	Ç	ê
스페인어
à	á	Á	é	É	í	Í	Ó	ó	Ú	ú	Ñ	ñ	ä	Ä

발행년	- (예 : 2010-2015)

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Academic Journal

Walker, Susan ; Bunyan, David J. ; Thomas, Huw B. ; Kesim, Yesim ; Kershaw, Christopher J. ; Holloway, John ; Wai, Htoo ; Day, Michael ; Smith, Cassandra L. ; Hawkes, Gareth ; Wood, Andrew R. ; Weedon, Michael N. ; Blair, Ed ; Curtis, Stephanie L. ; Fielden, Catherine ; Evans, Julie ; Whittington, Rebecca ; Smithson, Sarah F. ; Cox, Helen ; Clift, Paul ; McEntagart, Meriel ; Prapa, Matina ; Alsters, Suzanne ; Morris-Rosendahl, Deborah ; Dean, John ; Morrison, Patrick J. ; Dixit, Abhijit ; Sarkar, Ajoy ; Prescott, Katrina ; Amel Riazat Kesh, Leila ; Tharakan, Riya ; Turner, Claire ; Ellard, Sian ; Shaw-Smith, Charles ; Fasham, James ; Clowes, Virginia ; Holden, Simon ; Somarathi, Suresh ; Mercer, Catherine ; Berry, Ian ; O’Keefe, Raymond T. ; Banka, Siddharth ; Baralle, Diana ; Thomas, N. Simon ; Baple, Emma L. ; Taylor, Jenny C. ; Pagnamenta, Alistair T.

In Genetics in Medicine September 2025 27(9)

Full Text (ScienceDirect 종량제) Web of Science Scopus JCR 저널정보 Find it@PNU

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Academic Journal

Scott, Abbey; Iglesias, Alejandro; McConkie-Rosell, Allyn; Kritzer, Amy; Boto, Ana; Lewis, Andi M.; Tzschach, Andreas; Nicosia, Annarita; O’Donnell-Luria, Anne; Peron, Angela; Thuresson, Ann-Charlotte; Vulto-van-Silfhout, Anneke; Novelli, Antonio; Plomp, Astrid S.; Gangaram, Balram; Gil-Fournier, Belén; Keren, Boris; Genetti, Casie; De Luca, Chiara; Schaaf, Christian P.; Beneteau, Claire; Graziani, Daniela; Scott, Daryl A.; Koolen, David A.; Geneviéve, David; Bax, Dorine; Leslie, Elizabeth J.; Mizerik, Elizabeth; Roeder, Elizabeth; Magness, Emily; Nibbeling, Esther; Lesca, Gaetan; Annerén, Göran; Enns, Gregory M.; Van Esch, Hilde; Goel, Himanshu; Quintela, Inés; Cobben, Jan; Morrison, Jennifer L.; Eiris, Jesus; Stoler, Joan; Gao, Josephine; Steindl, Katharina; Dipple, Katrina; Kolokotronis, Konstantinos; Seaver, Laurie H.; Pollack, Lynda; Motazacker, Mahdi; Gasparri, Manuela; Sinnema, Margje; Digilio, Maria Cristina; McDonald, Marie T.; Ramírez, Marisol Ibarra; Doco-Fenzy, Martine; Kucharczyk, Marzena; Nizon, Mathilde; Boothe, Megan; O'Leary, Melanie C.; Carter, Melissa T.; Ross, Meredith; Wilson, Meredith; Klaassens, Merel; Ginevrino, Monia; Wojcik, Monica Hsiung; Robin, Nathaniel; Chatron, Nicolas; Boute, Odile; Agrawal, Pankaj; Fontana, Paolo; Zanoni, Paolo; Joset, Pascal; Torring, Pernille M.; Billie Au, Ping Yee; Stevens, Servi; León, Soraya Ramiro; Baskin, Stephanie; DiTroia, Stephanie Parker; Siow, Sue-Faye; Demaret, Tanguy; Plaiasu, Vasilica; Clowes, Virginia; Luo, Xi; Hilhorst-Hofstee, Yvonne; Pérez Baca, María del Rocío ; Palomares-Bralo, María ; Vanhooydonck, Michiel ; Hamerlinck, Lisa ; D’haene, Eva ; Leimbacher, Sebastian ; Jacobs, Eva Z. ; De Cock, Laurenz ; D’haenens, Erika ; Dheedene, Annelies ; Malfait, Zoë ; Vantomme, Lies ; Silva, Ananilia ; Rooney, Kathleen ; Zhao, Xiaonan ; Saeidian, Amir Hossein ; Owen, Nichole Marie ; Santos-Simarro, Fernando ; Lleuger-Pujol, Roser ; García-Miñaúr, Sixto ; Losantos-García, Itsaso ; Menten, Björn ; Gestri, Gaia ; Ragge, Nicola ; Sadikovic, Bekim ; Bogaert, Elke ; Vleminckx, Kris ; Naert, Thomas ; Syx, Delfien ; Callewaert, Bert ; Vergult, Sarah

In The American Journal of Human Genetics 5 June 2025 112(6):1388-1414

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing

Academic Journal

Stafford-Smith, Bethany ; Daniel, Morgan ; Peter, Michelle ; Gurasashvili, Jana ; Baptiste, Rashida ; Bracke-Manzanares, Xavier ; Georgiou, Lamprini ; Green-Armytage, Adele ; Griffin, Blanche ; Lumborg, Bethany ; Paternoster, Ben ; Smith, Emma ; Balasubramanian, Meena ; Bownass, Lucy ; Brennan, Paul ; Cleaver, Ruth ; Clowes, Virginia ; Costello, Philandra ; DeSouza, Bianca ; Dubois, Louise ; George, Angela ; George, Elaine ; Harrison, Rachel ; Hawkes, Lara ; Humphries, Steve E. ; Jones, Alan ; Jones, Elizabeth A. ; Kraus, Alison ; Holiday, Deborah ; McEntagart, Meriel ; Somarathi, Suresh ; Taylor, Amy ; Tripathi, Vishakha ; Morris, Stephen ; Chitty, Lyn S. ; Hill, Melissa

In Genetics in Medicine April 2025

Full Text (ProQuest) Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Web of Science Scopus JCR 저널정보 Find it@PNU

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

Academic Journal

Boonsawat, Paranchai ; Asadollahi, Reza ; Niedrist, Dunja ; Steindl, Katharina ; Begemann, Anaïs ; Joset, Pascal ; Bhoj, Elizabeth J. ; Li, Dong ; Zackai, Elaine ; Vetro, Annalisa ; Barba, Carmen ; Guerrini, Renzo ; Whalen, Sandra ; Keren, Boris ; Khan, Amjad ; Jing, Duan ; Palomares Bralo, María ; Rikeros Orozco, Emi ; Hao, Qin ; Schlott Kristiansen, Britta ; Zheng, Bixia ; Donnelly, Deirdre ; Clowes, Virginia ; Zweier, Markus ; Papik, Michael ; Siegel, Gabriele ; Sabatino, Valeria ; Mocera, Martina ; Horn, Anselm H.C. ; Sticht, Heinrich ; Rauch, Anita

In The American Journal of Human Genetics 5 September 2024 111(9):1994-2011

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. 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)

Full Text (ProQuest) Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science Scopus JCR 저널정보 Find it@PNU

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Academic Journal

Wolstencroft, Jeanne; Wicks, Francesca; Srinivasan, Ramya; Erwood, Marie; Lafont, Amy; Timur, Husne; Ye, Zheng; Walker, Susan; Printzlau, Frida; Juj, Manoj; Davies, Sarah; Denyer, Hayley; Watkins, Alice; Kerry, Eleanor; Coscini, Nadia; Fatih, Nasrtullah; Lucock, Anna; Denaxas, Spiros; Mandy, William; Walker, Neil; Wallwork, Sarah; Dewhurst, Eleanor; Cuthbert, Andrew; Challenger, Aimee; Andrews, Sophie; Holmans, Peter; Bowen, Samantha; Bradley, Karen; Birch, Philippa; Tong, Molly; Lewis, Nicola; Ray, Sinead; Sopp, Matthew; Moss, Hayley; Wynn, Sarah; Searle, Beverley; Robertson, Lisa; Berg, Jonathan; Lampe, Anne; Joss, Shelagh; Brennan, Paul; Kraus, Alison; Lahiri, Nayana; Weber, Astrid; Rawson, Myfanwy; Johnson, Diana; Vasudevan, Pradeep; Harrison, Rachel; Williams, Denise; Maher, Eamonn; Kini, Usha; Van Dijk, Fleur; Clowes, Virginia; Gurasashvilli, Jana; Mansour, Sahar; Holder-Espinasse, Muriel; Watford, Amy; Rankin, Julia; Baralle, Diana; Procter, Annie; Ford, Tamsin; Baker, Kate; Chawner, Samuel; Hall, Jeremy; Van den Bree, Marianne B M; Owen, Michael J; Skuse, David; Raymond, F Lucy; Chawner, Samuel J R A ; van den Bree, Marianne B M

In The Lancet Psychiatry September 2022 9(9):715-724

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Scopus Find it@PNU

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Academic Journal

Adams, Lisa; Adlard, Julian; Alfonso, Rosa; Ali, Saira; Andrew, Angela; Araújo, Luís; Azam, Nazya; Ball, Darran; Barker, Queenstone; Basevitch, Alon; Benton, Barbara; Berlin, Cheryl; Bermingham, Nicola; Biller, Leah; Bloss, Angela; Bradford, Matilda; Bradshaw, Nicola; Branson, Amy; Brendler, Charles; Brennan, Maria; Bulman, Barbara; Burgess, Lucy; Cahill, Declan; Callard, Alice; Calvo Verges, Nuria; Cardoso, Marta; Carter, Vanda; Catanzaro, Mario; Chamberlain, Anthony; Chapman, Cyril; Chong, Michael; Clark, Caroline; Clowes, Virginia; Cogley, Lyn; Cole, Trevor; Compton, Cecilia; Conner, Tom; Cookson, Sandra; Cornford, Philip; Costello, Philandra; Coulier, Laura; Davies, Michaela; Dechet, Christopher; DeSouza, Bianca; Devlin, Gemma; Douglas, Fiona; Douglas, Emma; Dudakia, Darshna; Duncan, Alexis; Ellery, Natalie; Everest, Sarah; Freemantle, Sue; Frydenberg, Mark; Fuller, Debbie; Gabriel, Camila; Gale, Madeline; Garcia, Lynda; Gay, Simona; Genova, Elena; George, Angela; Georgiou, Demetra; Gisbert, Alexandra; Gleeson, Margaret; Glover, Wayne; Gnanapragasam, Vincent; Goff, Sally; Goldgar, David; Gonçalves, Nuno; Goodman, Selina; Gorrie, Jennifer; Gott, Hannah; Grant, Anna; Gray, Catherine; Griffiths, Julie; Gupwell, Karin; Gurasashvili, Jana; Hanslien, Eldbjørg; Haraldsdottir, Sigurdis; Hart, Rachel; Hartigan, Catherine; Hawkes, Lara; Heaton, Tricia; Henderson, Alex; Henrique, Rui; Hilario, Kathrine; Hill, Kathryn; Hulick, Peter; Hunt, Clare; Hutchings, Melanie; Ibitoye, Rita; Inglehearn, Thomas; Ireland, Joanna; Islam, Farah; Ismail, Siti; Jacobs, Chris; James, Denzil; Jenkins, Sharon; Jobson, Irene; Johnstone, Anne; Jones, Oliver; Josefsberg Ben-Yehoshua, Sagi; Kaemba, Beckie; Kaul, Karen; Kemp, Zoe; Kinsella, Netty; Klehm, Margaret; Kockelbergh, Roger; Kohut, Kelly; Kosicka-Slawinska, Monika; Kulkarni, Anjana; Kumar, Pardeep; Lam, Jimmy; LeButt, Mandy; Leibovici, Dan; Lim, Ramona; Limb, Lauren; Lomas, Claire; Longmuir, Mark; López, Consol; Magnani, Tiziana; Maia, Sofia; Maiden, Jessica; Male, Alison; Manalo, Merrie; Martin, Phoebe; McBride, Donna; McGuire, Michael; McMahon, Romayne; McNally, Claire; McVeigh, Terri; Melzer, Ehud; Mencias, Mark; Mercer, Catherine; Mitchell, Gillian; Mora, Josefina; Morton, Catherine; Moss, Cathryn; Murphy, Morgan; Murphy, Declan; Mzazi, Shumi; Nadolski, Maria; Newlin, Anna; Nogueira, Pedro; O'Keefe, Rachael; O'Toole, Karen; O'Connell, Shona; Ogden, Chris; Okoth, Linda; Oliveira, Jorge; Paez, Edgar; Palou, Joan; Park, Linda; Patel, Nafisa; Paulo Souto, João; Pearce, Allison; Peixoto, Ana; Perez, Kimberley; Petelin, Lara; Pichert, Gabriella; Poile, Charlotte; Potter, Alison; Preitner, Nadia; Purnell, Helen; Quinn, Ellen; Radice, Paolo; Rankin, Brigette; Rees, Katie; Renton, Caroline; Richardson, Kate; Risby, Peter; Rogers, Jason; Ruderman, Maggie; Ruiz, April; Sajoo, Anaar; Salvatore, Natale; Sands, Victoria; Sanguedolce, Francesco; Sattar, Ayisha; Saunders, Kathryn; Schofield, Lyn; Scott, Rodney; Searle, Anne; Sehra, Ravinder; Selkirk, Christina; Shackleton, Kylie; Shanley, Sue; Shaw, Adam; Shevrin, Daniel; Shipman, Hannah; Sidat, Zahirah; Siguake, Kas; Simon, Kate; Smyth, Courtney; Snadden, Lesley; Solanky, Nita; Solomons, Joyce; Sorrentino, Margherita; Stayner, Barbara; Stephenson, Robert; Stoffel, Elena; Thomas, Maggie; Thompson, Alan; Tidey, Lizzie; Tischkowitz, Marc; Torokwa, Audrey; Townshend, Sharron; Treherne, Katy; Tricker, Karen; Trinh, Quoc-Dien; Tripathi, Vishakha; Turnbull, Clare; Valdagni, Riccardo; Van As, Nicholas; Venne, Vickie; Verdon, Lizzie; Vitellaro, Marco; Vogel, Kristen; Walker, Lisa; Watford, Amy; Watt, Cathy; Weintroub, Ilana; Weiss, Shelly; Weissman, Scott; Weston, Michelle; Wiggins, Jennifer; Wise, Gillian; Woodhouse, Christopher; Yesildag, Pembe; Youngs, Alice; Yurgelun, Matthew; Zollo, Fabiana; Bancroft, Elizabeth K ; Page, Elizabeth C ; Brook, Mark N ; Thomas, Sarah ; Taylor, Natalie ; Pope, Jennifer ; McHugh, Jana ; Jones, Ann-Britt ; Karlsson, Questa ; Merson, Susan ; Ong, Kai Ren ; Hoffman, Jonathan ; Huber, Camilla ; Maehle, Lovise ; Grindedal, Eli Marie ; Stormorken, Astrid ; Evans, D Gareth ; Rothwell, Jeanette ; Lalloo, Fiona ; Brady, Angela F ; Bartlett, Marion ; Snape, Katie ; Hanson, Helen ; James, Paul ; McKinley, Joanne ; Mascarenhas, Lyon ; Syngal, Sapna ; Ukaegbu, Chinedu ; Side, Lucy ; Thomas, Tessy ; Barwell, Julian ; Teixeira, Manuel R ; Izatt, Louise ; Suri, Mohnish ; Macrae, Finlay A ; Poplawski, Nicola ; Chen-Shtoyerman, Rakefet ; Ahmed, Munaza ; Musgrave, Hannah ; Nicolai, Nicola ; Greenhalgh, Lynn ; Brewer, Carole ; Pachter, Nicholas ; Spigelman, Allan D ; Azzabi, Ashraf ; Helfand, Brian T ; Halliday, Dorothy ; Buys, Saundra ; Ramon y Cajal, Teresa ; Donaldson, Alan ; Cooney, Kathleen A ; Harris, Marion ; McGrath, John ; Davidson, Rosemarie ; Taylor, Amy ; Cooke, Peter ; Myhill, Kathryn ; Hogben, Matthew ; Aaronson, Neil K ; Ardern-Jones, Audrey ; Bangma, Chris H ; Castro, Elena ; Dearnaley, David ; Dias, Alexander ; Dudderidge, Tim ; Eccles, Diana M ; Green, Kate ; Eyfjord, Jorunn ; Falconer, Alison ; Foster, Christopher S ; Gronberg, Henrik ; Hamdy, Freddie C ; Johannsson, Oskar ; Khoo, Vincent ; Lilja, Hans ; Lindeman, Geoffrey J ; Lubinski, Jan ; Axcrona, Karol ; Mikropoulos, Christos ; Mitra, Anita V ; Moynihan, Clare ; Ni Raghallaigh, Holly ; Rennert, Gad ; Collier, Rebecca ; Offman, Judith ; Kote-Jarai, Zsofia ; Eeles, Rosalind A

In The Lancet Oncology November 2021 22(11):1618-1631

Full Text (ProQuest) Full Text (ProQuest) Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science Scopus JCR 저널정보 Find it@PNU

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Academic Journal

Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cookson, Victoria; Cooper, Nichola; Corris, Paul; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Dixon, Peter; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Graf, Stefan; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huis in’t Veld, Anna; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kuijpers, Taco; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lango-Allen, Hana; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Louka, Eleni; Machado, Rajiv; Ross, Rob Mackenzie; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Othman, Shokri; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rayner-Matthews, Paula; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Roy, Noémi; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schotte, Gwen; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth G.C.; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Watt, Christopher; Webster, ndrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Woods, Geoff; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Whitworth, James ; Smith, Philip S. ; Martin, Jose-Ezequiel ; West, Hannah ; Luchetti, Andrea ; Rodger, Faye ; Clark, Graeme ; Penkett, Chris ; Shakeel, Hassan ; Ahmed, Munaza ; Adlard, Julian ; Barwell, Julian ; Brewer, Carole ; Casey, Ruth T. ; Cole, Trevor ; Evans, Dafydd Gareth ; Fostira, Florentia ; Greenhalgh, Lynn ; Hanson, Helen ; Henderson, Alex ; Hoffman, Jonathan ; Izatt, Louise ; Kumar, Ajith ; Kwong, Ava ; Lalloo, Fiona ; Ong, Kai Ren ; Chen-Shtoyerman, Rakefet ; Searle, Claire ; Side, Lucy ; Skytte, Anne-Bine ; Snape, Katie ; Woodward, Emma R. ; Tischkowitz, Marc D. ; Maher, Eamonn R.

In The American Journal of Human Genetics 5 July 2018 103(1):3-18

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Academic Journal

Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Carss, Keren J. ; Hull, Sarah ; Malka, Samantha ; Plagnol, Vincent ; Penkett, Christopher ; Rizzo, Roberta ; Wright, Genevieve ; Scott, Richard H. ; Brady, Angela F. ; Henderson, Robert H.H. ; MacLaren, Robert E. ; Thompson, Dorothy A. ; Moore, Anthony T. ; Webster, Andrew R. ; Raymond, F. Lucy

In The American Journal of Human Genetics 5 January 2017 100(1):75-90

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Academic Journal

Holt, Richard; Goudie, David; Verde, Alejandra Damián; Gardham, Alice; Ramond, Francis; Putoux, Audrey; Sarkar, Ajoy; Clowes, Virginia; Clayton-Smith, Jill; Banka, Siddharth; Cortazar Galarza, Laura; Thuret, Gilles; Ubeda Erviti, Marta; Zurutuza Ibarguren, Ane; Sáez Villaverde, Raquel; Tamayo Durán, Alejandra; Ayuso, Carmen; Bax, Dorine A; Plaisancie, Julie; Corton, Marta

Ophthalmic Genetics. Dec2022, Vol. 43 Issue 6, p809-816. 8p.

EBSCOHost PDF Web of Science Scopus JCR 저널정보 Find it@PNU

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Academic Journal

Clowes, Virginia; Ma, Xiaolun; Maude, Hannah; Dennis, Catherine; Gao, Qing; Quinn, Geraldine; O'Toole, Edel A.; Batta, Kapila; Cebola, Inês; Cui, Wei; Aziz, Aziz ur Rehman

Human Mutation; 7/1/2024, Vol. 2024, p1-12, 12p

EBSCOHost PDF Full Text (ProQuest) Web of Science Scopus JCR 저널정보 Find it@PNU

Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant.

Academic Journal

Clowes, Virginia; Taylor, Jenny C.; Pagnamenta, Alistair T.

Journal of Medical Genetics; Feb2025, Vol. 62 Issue 2, p54-56, 3p

Full Text (ProQuest) Full Text (ProQuest) Full Text (BMJ Journals) Web of Science Scopus JCR 저널정보 Find it@PNU

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Academic Journal

McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; 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; Newbury-Ecob, Ruth; 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; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; 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; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; O’Donnell-Luria, Anne H. ; Pais, Lynn S. ; Faundes, Víctor ; Wood, Jordan C. ; Sveden, Abigail ; Luria, Victor ; Abou Jamra, Rami ; Accogli, Andrea ; Amburgey, Kimberly ; Anderlid, Britt Marie ; Azzarello-Burri, Silvia ; Basinger, Alice A. ; Bianchini, Claudia ; Bird, Lynne M. ; Buchert, Rebecca ; Carre, Wilfrid ; Ceulemans, Sophia ; Charles, Perrine ; Culliton, Lisa ; Currò, Aurora ; Demurger, Florence ; Dowling, James J. ; Duban-Bedu, Benedicte ; Dubourg, Christèle ; Eiset, Saga Elise ; Escobar, Luis F. ; Ferrarini, Alessandra ; Haack, Tobias B. ; Hashim, Mona ; Heide, Solveig ; Helbig, Katherine L. ; Helbig, Ingo ; Heredia, Raul ; Héron, Delphine ; Isidor, Bertrand ; Jonasson, Amy R. ; Joset, Pascal ; Keren, Boris ; Kok, Fernando ; Kroes, Hester Y. ; Lavillaureix, Alinoë ; Lu, Xin ; Maas, Saskia M. ; Maegawa, Gustavo H.B. ; Marcelis, Carlo L.M. ; Mark, Paul R. ; Masruha, Marcelo R. ; McLaughlin, Heather M. ; McWalter, Kirsty ; Melchinger, Esther U. ; Mercimek-Andrews, Saadet ; Nava, Caroline ; Pendziwiat, Manuela ; Person, Richard ; Ramelli, Gian Paolo ; Ramos, Luiza L.P. ; Rauch, Anita ; Reavey, Caitlin ; Renieri, Alessandra ; Rieß, Angelika ; Sanchez-Valle, Amarilis ; Sattar, Shifteh ; Saunders, Carol ; Schwarz, Niklas ; Smol, Thomas ; Srour, Myriam ; Steindl, Katharina ; Syrbe, Steffen ; Taylor, Jenny C. ; Telegrafi, Aida ; Thiffault, Isabelle ; Trauner, Doris A. ; van der Linden, Helio, Jr. ; van Koningsbruggen, Silvana ; Villard, Laurent ; Vogel, Ida ; Weber, Yvonne G. ; Wentzensen, Ingrid M. ; Widjaja, Elysa ; Zak, Jaroslav ; Baxter, Samantha ; Rodan, Lance H.

In The American Journal of Human Genetics 6 June 2019 104(6):1210-1222

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Academic Journal

McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; 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; Newbury-Ecob, Ruth; 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; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; 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; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Al Turki, Saeed; Anderson, Carl; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Balasubramaniam, Senduran; Barroso, Inês; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebhattin; Clapham, Peter; Clement, Gail; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Day-Williams, Aaron; Day, Ian N.M.; Down, Thomas; Du, Yuanping; Dunham, Ian; Edkins, Sarah; Ellis, Peter; Evans, David; Faroogi, Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David R.; Flicek, Paul; Flyod, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Geihs, Matthias; Geschwind, Daniel; Griffin, Heather; Grozeva, Detelina; Guo, Xueqin; Guo, Xiaosen; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey; Holmans, Peter; Howie, Bryan; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Jing, Tian; Joyce, Chris; Kaye, Jane; Keane, Thomas; Keogh, Julia; Kemp, John; Kennedy, Karen; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Liang, Jieqin; Lin, Hong; Li, Rui; Li, Yingrui; Liu, Ryan; Lönnqvist, Jouko; Lopes, Margarida; Iotchkova, Valentina; MacArthur, Daniel; Marchini, Jonathan; Maslen, John; Massimo, Mangino; Mathieson, Iain; Marenne, Gaëlle; McGuffin, Peter; McIntosh, Andrew; McKechanie, Andrew G.; McQuillin, Andrew; Metrustry, Sarah; Mitchison, Hannah; Moayyeri, Alireza; Morris, James; Muntoni, Francesco; Northstone, Kate; O'Donnovan, Michael; Onoufriadis, Alexandros; O'Rahilly, Stephen; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Pietilainen, Olli; Plagnol, Vincent; Quaye, Lydia; Quail, Michael A.; Rehnström, Karola; Ring, Susan; Ritchie, Graham R.S.; Roberts, Nicola; Savage, David B.; Scambler, Peter; Schiffels, Stephen; Schmidts, Miriam; Schoenmakers, Nadia; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shin, So-Youn; Skuse, David; Small, Kerrin; Southam, Lorraine; Spasic-Boskovic, Olivera; St Clair, David; Stalker, Jim; Stevens, Elizabeth; St Pourcian, Beate; Sun, Jianping; Suvisaari, Jaana; Tachmazidou, Ionna; Tobin, Martin D.; Valdes, Ana; Van Kogelenberg, Margriet; Visscher, Peter M.; Wain, Louise V.; Walters, James T.R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Elanor; Whyte, Tamieka; Williams, Hywel; Williamson, Kathleen A.; Wilson, Crispian; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zhang, Fend; Zhang, Pingbo; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Carmichael, Jenny; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; James, Roger; Jolles, Stephen; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Parker, Alasdair; Pasi, John; Patch, Chris; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Gorman, Kathleen M. ; Meyer, Esther ; Spinelli, Egidio ; McTague, Amy ; Carss, Keren J. ; Bryant, Emily ; Reich, Adi ; Schneider, Amy L. ; Pressler, Ronit M. ; Simpson, Michael A. ; Debelle, Geoff D. ; Sieciechowicz, Diana ; Jan-Kamsteeg, Eric ; Paciorkowski, Alex R. ; King, Mary D. ; Cross, J. Helen ; Poduri, Annapurna ; Mefford, Heather C. ; Scheffer, Ingrid E. ; Haack, Tobias B. ; McCullagh, Gary ; Millichap, John J. ; Carvill, Gemma L. ; Maher, Eamonn R. ; Kurian, Manju A.

In The American Journal of Human Genetics 2 May 2019 104(5):948-956

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Academic Journal

Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco W.; Laffan, Michael A.; Maher, Eamonn; Markus, Hugh S.; Morrell, Nicholas W.; Ouwehand, Willem H.; Perry, David J.; Raymond, F. Lucy; Roberts, Irene; Smith, Kenneth G.C.; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John R.; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Penkett, Christopher J.; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; Frary, Amy; Linger, Rachel; Martin, Jennifer M.; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir K.; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Janine; Collins, Peter; Erber, Wendy N.; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gebhart, Johanna; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel; Heemskerk, Johan W.M.; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne M.; Lambert, Michele P.; Lentaigne, Claire; Liesner, Ri; Makris, Mike; Mangles, Sarah; Mathias, Mary; Millar, Carolyn M.; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Peerlinck, Kathelijne; Revel-Vilk, Shoshana; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Stubbs, Matthew; Tait, R. Campbell; Talks, Kate; Thachil, Jecko; Toh, Cheng-Hock; Turro, Ernest; Van Geet, Chris; De Vries, Minka; Warner, Timothy Q.; Watson, Henry; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Rayner-Matthews, Paula; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Watt, Christopher; Whitehorn, Deborah; Attwood, Antony; Daugherty, Louise; Deevi, Sri V.V.; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Shamardina, Olga; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Bleda, Marta; Carss, Keren J.; Gräf, Stefan; Haimel, Matthias; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Anderson, Julie; Bryson, Christine; Carmichael, Jenny; McJannet, Coleen; Stock, Sophie; Allen, Louise; Ambegaonkar, Gautum; Armstrong, Ruth; Arno, Gavin; Bitner-Glindzicz, Maria; Brady, Angie; Canham, Natalie; Chitre, Manali; Clement, Emma; Clowes, Virginia; Deegan, Patrick; Deshpande, Charu; Doffinger, Rainer; Firth, Helen; Flinter, Frances; French, Courtney; Gardham, Alice; Ghali, Neeti; Gissen, Paul; Grozeva, Detelina; Henderson, Robert; Hensiek, Anke; Holden, Simon; Holder, Muriel; Holder, Susan; Hurst, Jane; Josifova, Dragana; Krishnakumar, Deepa; Kurian, Manju A.; Lees, Melissa; MacLaren, Robert; Maw, Anna; Mehta, Sarju; Michaelides, Michel; Moore, Anthony; Murphy, Elaine; Park, Soo-Mi; Parker, Alasdair; Patch, Chris; Paterson, Joan; Rankin, Julia; Reid, Evan; Rosser, Elisabeth; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Scott, Richard; Sohal, Aman; Stein, Penelope; Thomas, Ellen; Thompson, Dorothy; Tischkowitz, Marc; Vogt, Julie; Wakeling, Emma; Wassmer, Evangeline; Webster, Andrew; Ali, Sonia; Ali, Souad; Boggard, Harm J.; Church, Colin; Coghlan, Gerry; Cookson, Victoria; Corris, Paul A.; Creaser-Myers, Amanda; DaCosta, Rosa; Dormand, Natalie; Eyries, Mélanie; Gall, Henning; Ghataorhe, Pavandeep K.; Ghio, Stefano; Ghofrani, Ardi; Gibbs, J. Simon R.; Girerd, Barbara; Greenhalgh, Alan; Hadinnapola, Charaka; Houweling, Arjan C.; Humbert, Marc; in’t Veld, Anna Huis; Kennedy, Fiona; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Rob V. Mackenzie; Machado, Rajiv; Masati, Larahmie; Meehan, Sharon; Moledina, Shahin; Montani, David; Othman, Shokri; Peacock, Andrew J.; Pepke-Zaba, Joanna; Pollock, Val; Polwarth, Gary; Ranganathan, Lavanya; Rhodes, Christopher J.; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Soubrier, Florent; Southgate, Laura; Scelsi, Laura; Suntharalingam, Jay; Tan, Yvonne; Toshner, Mark; Treacy, Carmen M.; Trembath, Richard; Vonk Noordegraaf, Anton; Walker, Sara; Wanjiku, Ivy; Wharton, John; Wilkins, Martin; Wort, Stephen J.; Yates, Katherine; Alachkar, Hana; Antrobus, Richard; Arumugakani, Gururaj; Bacchelli, Chiara; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Booth, Claire; Browning, Michael; Burns, Siobhan; Chandra, Anita; Cooper, Nichola; Davies, Sophie; Devlin, Lisa; Drewe, Elizabeth; Edgar, David; Egner, William; Ghurye, Rohit; Gilmour, Kimberley; Goddard, Sarah; Gordins, Pavel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Lear, Sara; Longhurst, Hilary; Lorenzo, Lorena; Maimaris, Jesmeen; Manson, Ania; McDermott, Elizabeth; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Richter, Alex; Samarghitean, Crina; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Staples, Emily; Stauss, Hans; Thaventhiran, James; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick; Ancliff, Phil; Babbs, Christian; Layton, Mark; Louka, Eleni; McGowan, Simon; Mead, Adam; Roy, Noémi; Chambers, Jenny; Dixon, Peter; Estiu, Cecelia; Hague, Bill; Marschall, Hanns-Ulrich; Simpson, Michael; Chong, Sam; Emmerson, Ingrid; Ginsberg, Lionel; Gosal, David; Hadden, Rob; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Marshall, Andrew; Matthews, Emma; McCarthy, Mark; Reilly, Mary; Renton, Tara; Rice, Andrew; Themistocleous, Andreas; Vale, Tom; Van Zuydam, Natalie; Walker, Suellen; Ormondroyd, Liz; Hudson, Gavin; Wei, Wei; Yu Wai Man, Patrick; Whitworth, James; Afzal, Maryam; Colby, Elizabeth; Saleem, Moin; Alavijeh, Omid S.; Cook, H. Terry; Johnson, Sally; Levine, Adam P.; Wong, Edwin K.S.; Tan, Rhea; Boycott, Kym M.; MacKenzie, Alex; Majewski, Jacek; Brudno, Michael; Bulman, Dennis; Dyment, David; Ito, Yoko ; Duarte, Sofia T. ; Hartley, Taila ; Keren, Boris ; Marey, Isabelle ; Charles, Perinne ; Mendonça, Carla ; Nava, Caroline ; Pfundt, Rolph ; van Bokhoven, Hans ; van Essen, Anthony ; van Ravenswaaij-Arts, Conny ; Kernohan, Kristin D. ; Dyack, Sarah

In The American Journal of Human Genetics 5 July 2018 103(1):144-153

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers

Academic Journal

Bancroft, Elizabeth K.; Page, Elizabeth C.; Brook, Mark N.; Pope, Jennifer; Thomas, Sarah; Myhill, Kathryn; Helfand, Brian T.; Talaty, Pooja; Ong, Kai-Ren; Douglas, Emma; Cook, Jackie; Rosario, Derek J.; Salinas, Monica; Buys, Saundra S.; Anson, Jo; Davidson, Rosemarie; Longmuir, Mark; Side, Lucy; Eccles, Diana M.; Tischkowitz, Marc; Taylor, Amy; Cruellas, Mara; Ballestero, Eduard Perez; Cleaver, Ruth; Varughese, Mohini; Barwell, Julian; LeButt, Mandy; Greenhalgh, Lynn; Hart, Rachel; Azzabi, Ashraf; Jobson, Irene; Cogley, Lynn; Evans, D. Gareth; Rothwell, Jeanette; Taylor, Natalie; Hogben, Matthew; Saya, Sibel; Kote-Jarai, Zsofia; Ardern-Jones, Audrey; Bangma, Chris; Castro, Elena; Dearnaley, David; Eyfjord, Jorunn; Falconer, Alison; Foster, Christopher; Grönberg, Henrik; Hamdy, Freddie C.; Jóhannsson, Óskar Þór; Khoo, Vincent; Lilja, Hans; Lindeman, Geoffrey; Lubinski, Jan; Maehle, Lovise; Millner, Alan; Mikropoulos, Christos; Mitra, Anita; Moynihan, Clare; Offman, Judith; Rennert, Gad; Suri, Mohnish; Wilson, Penny; Melia, Jane; Mitchell, Gillian; Moss, Sue; Schroder, Fritz; Easton, Doug; Peock, Susan; Sibley, Paul; Sharifi, Reza; James, Paul; Shanley, Sue; Richardson, Kate; McKinley, Joanne; Petelin, Lara; Murphy, Morgan; Mascarenhas, Lyon; Reeve, Katrina; Murphy, Declan; Lam, Jimmy; Chong, Michael; Suthers, Graeme; Poplawski, Nicola; Ward, Robyn; Tucker, Katherine; Andrews, Lesley; Williams, Rachel; Duffy, Jessica; Millard, Richard; Jarvis, Tom; Stricker, Phillip; Kirk, Judy; Bowman, Michelle; Patel, Manish; Harris, Marion; O'Connell, Shona; Hunt, Clare; Smyth, Courtney; Frydenberg, Mark; Morton, Catherine; Shackleton, Kylie; Susman, Rachel; McGaughran, Julie; Boon, Melanie; Townshend, Sharron; Schofield, Lyn; Pachter, Nicholas; Spigelman, Allan; Gleeson, Margaret; Scott, Rodney; Amor, David; Burke, Jo; Patterson, Briony; Swindle, Peter; Foulkes, William; Rezoug, Zoulikha; Feng, Leila; Boshari, Talia; Taherian, Nassim; Aprikian, Armen; Jeanjean, Marie; Jensen, Thomas Dyrsø; Rønlund, Karina; Osther, Palle; Tondering, Majbritt Kure; Gerdes, Anne-Marie; Schmutzler, Rita; Rhiem, Kerstin; Luedtke-Heckenkamp, Kerstin; Wihler, Petra; Ochsendorf, Nicole; Fiddike, Kerstin; Herold, Natalie; Kast, K.; Zastrow, S.; Griebsch, C.; Johannsson, Oskar; Stefansdottir, Vigdis; Murthy, Vedang; Sarin, Rajiv; Kowtal, Pradnya; Gallagher, David; Bambury, Richard; Farrell, Michael; Kiernan, Fergal Gallagher Ingrid; Smith, Martina; Warren, Siobhan; Cahill, Aisling; Murphy, Verena; Fleming, Catherine; Morrin, Elizabeth; Chen-Shtoyerman, Rakefet; Basevitch, Alon; Leibovici, Dan; Melzer, Ehud; Ben-Yehoshua, Sagi Josefsberg; Friedman, Eitan; Nicolai, Nicola; Radice, Paolo; Valdagni, Riccardo; Magnani, Tiziana; Zollo, Fabiana; Catanzaro, Mario; Sorrentino, Margherita; Gay, Simona; Vitellaro, Marco; Tan, Hui Meng; Yoon, Sook-Yee; Teo, Soo Hwang; Thong, Meow Keong; Vasen, Hans; van Asperen, Christi; Ringelberg-Borsboom, Janneke; van Randeraad, Helen; van Zelst-Stams, Wendy; Ausems, Margreet G. E. M.; van der Luijt, Rob B.; van Os, Theo; Ruijs, Mariëlle W. G.; Adank, Muriel A.; Oldenburg, Rogier A.; Oosterwijk, Jan C.; Mæhle, Lovise; Grindedal, Eli Marie; Hanslien, Eldbjørg; Axcrona, Karol; Cybulski, Cezary; Wokolorczyk, Dominika; Teixeira, Manuel; Maia, Sofia; Cardoso, Marta; Peixoto, Ana; Henrique, Rui; Oliveira, Jorge; Gonçalves, Nuno; Araújo, Luís; Souto, João Paulo; Nogueira, Pedro; Ilencikova, Denisa; Copakova, Lucia; Zgajnar, Janez; Krajc, Mateja; Vrecar, Alenka; Capella, Gabriel; Ramón y Cajal, Teresa; Verges, Nuria Calvo; Mora, Josefina; Palou, Joan; López, Consol; Fisas, David; Gisbert, Alexandra; Balmaña, Judith; Gadea, Neus; Morote, Juan; Liljegren, Annelie; Hjälm-Eriksson, Marie; Ekdahl, Karl-Johan; Carlsson, Stefan; George, Angela; Kemp, Zoe; Wiggins, Jennifer; Moss, Cathryn; Verdon, Lizzie; van As, Nicholas; Thompson, Alan; Ogden, Chris; Woodhouse, Christopher; Kumar, Pardeep; Cahill, Declan; Tricker, Karen; Bulman, Barbara; Thomas, Tessy; Ruiz, April; Ball, Darran; Jones, Oliver; Mercer, Catherine; McBride, Donna; Wise, Philandra Costello Gillian; Pearce, Allison; Sands, Victoria; Torokwa, Audrey; Gnanapragasam, Vincent; Walker, Lisa; Halliday, Dorothy; Stobie, Emma; Purnell, Helen; Stayner, Barbara; Hamdy, Freddie; Chalinor, Heather; Miller, Venessa; Saunders, Kathryn; Hanson, Helen; Manalo, Merrie; Dudakia, Darshna; Dearing, Audrey; Hodgson, Shirley; Brice, Glen; Homfray, Tessa; Hammond, Carrie; Winchester, Elizabeth; Mencias, Mark; Brewer, Carole; Park, Linda; Ireland, Joanna; Potter, Alison; Renton, Caroline; Searle, Anne; Hill, Kathryn; Goodman, Selina; Garcia, Lynda; Devlin, Gemma; Everest, Sarah; Nadolski, Maria; Fuller, Debbie; Grey, Catherine; Hutchings, Melanie; Gupwell, Karin; Thomas, Maggie; Bradford, Matilda; Cookson, Sandra; Adams, Lisa; Wannell, Hannah; Ashman, Sophie; Kelland, Rachel; Paez, Edgar; Henderson, Alex; Douglas, Fiona; Donaldson, Alan; Watford, Amy; Tomkins, Sue; Izatt, Louise; Tripathi, Vishakha; Weston, Michelle; Hilario, Kathrine; Pichert, Gabriella; Jacobs, Chris; Mencias, Caroline Langman Mark; Kulkarni, Anjana; de Souza, Bianca; Turnbull, Clare; Youngs, Alice; Compton, Cecilia; Brady, Angela; Clowes, Virginia; Dorkins, Huw; Arshad, Falak; Melville, Athalie; Kosicka-Slawinska, Monika; Cummings, Carole; Kiesel, Vicki; Bartlett, Marion; Randhawa, Kashmir; Ellery, Natalie; Sequeira, Cheryl; Sakuma, Samia; Georgiou, Demetra; Adeoye, Toyin; Ahmed, Munaza; Male, Alison; Gurasashvili, Jana; Simon, Kate; Rees, Katie; Tidey, Lizzie; Coulier, Laura; Gabriel, Camila; Quinn, Ellen; Solanky, Nita; Davies, Jennifer; Bayliss, Pauline; Patterson, Louise; Ingram, Stuart; Armitage, Kelsey; Howell, Alice; Ward, Clare; Catto, James; Howson, Joanne; Hoffman, Jonathan; Huber, Camilla; Chandrashekara, Madhura; Glover, Wayne; Islam, Farah; Ali, Saira; Burgess, Lucy; Chapman, Cyril; Heaton, Tricia; Cole, Trevor; Watt, Cathy; Duncan, Alexis; Bradshaw, Nicola; Snadden, Lesley; Gorrie, Jennifer; Kockelbergh, Roger; Mzazi, Shumi; Poile, Charlotte; Sattar, Ayisha; Kaemba, Beckie; Sidat, Zahirah; Patel, Nafisa; Siguake, Kas; Branson, Amy; Birt, Angela; Poultney, Una; Umez-Eronini, Nkem; Mom, Jaswant; Wilkinson, Beverley; Davies, Michaela; O’Keefe, Rachael; Johnstone, Anne; Roberts, Gillian; Woodward, Anthony; Sutton, Vivienne; Baker, Queenstone; Cornford, Philip; Treherne, Nicola Bermingham Katy; Griffiths, Julie; Yesildag, Pembe; Gott, Hannah; Brennan, Maria; Salvatore, Natale; Freemantle, Sue; Selkirk, Christina; Hulick, Peter; Rubinstein, Wendy; Brendler, Charles; Kaul, Karen; Shevrin, Daniel; Weissman, Scott; Newlin, Anna; Vogel, Kristen; Weiss, Shelly; O’Toole, Karen; Conner, Tom; Venne, Vickie; Stephenson, Robert; Dechet, Christopher; Domchek, Susan; Powers, Jacquelyn; Arun, Banu; Strom, Sara; Davis, John W.; Yamamura, Yuko; Obeid, Elias; Bealin, Lisa; Bagden, Loretta; Montgomery, Sue; Giri, Veda; Gross, Laura; Cooney, Kathy; Stoffel, Elena; Okoth, Linda; Asselman, M.; Beerlage, H. P.; Blitz, W.; Boevé, E. R.; Bout, C. A.; Commelin, G.; Cornel, E. B.; Davits, R. J. A. M.; de Hond, J. A. P. M.; Dijkman, G. A.; Fernandes, J. G.; Fransis, K. B. J.; Geboers, A. D. H.; Gilhuis, R.; Jaspars, J. J. P.; Jong, I. J.; Jongen-Huinink, M. M. G. J.; Karthaus, H. F. M.; Kil, P. J. M.; Kleingeld, P. E.; Kniestedt, W. J.; Knipscheer, B. C.; Kropman, R. F.; Lampe, M. I.; Langbein, S. I.; Langeveld, J. W. H. M.; Leenarts, J. A. F.; Leter, M. R.; Lock, M. T. W. T.; Meier, A. H. P.; Meijer, B.; Molijn, G. J.; Mulders, P. F. A.; Naderi, N.; Noordzij, M. A.; Noordzij, J. W.; Pernet, F. P. P. M.; Roos, E. P. M.; Schaaf, M. J.; Schaafsma, R. J. H.; Smits, G. A. H. J.; Smorenburg, S.; Spermon, J. R.; van Andel, G.; van Boven, E.; van de Beek, C.; van der Cruijsen-Koeter, I. W.; van der Poel, H. G.; van Vierssen Trip, O. B.; Vegt, P. D. J.; Verhulst, A. P. M.; Verlind, J.; Vijverberg, P.; Wertheimer, P. A.; Wijsman, B. P.; Zambon, J. V.; Eeles, Rosalind A.; Aaronson, Neil K.

Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
BJU International, 134, 3, pp. 484-500
Bancroft, E K, Page, E C, Brook, M N, Pope, J, Thomas, S, Myhill, K, Helfand, B T, Talaty, P, Ong, K-R, Douglas, E, Cook, J, Rosario, D J, Salinas, M, Buys, S S, Anson, J, Davidson, R, Longmuir, M, Side, L, Eccles, D M, Tischkowitz, M, Taylor, A, Cruellas, M, Ballestero, E P, Cleaver, R, Varughese, M, Barwell, J, LeButt, M, Greenhalgh, L, Hart, R, Azzabi, A, Jobson, I, Cogley, L, Evans, D G, Rothwell, J, Hogben, M, Saya, S, Eeles, R A, Aaronson, N K & The Impact Study Steering Committee And Collaborators 2024, 'The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers', BJU international, vol. 134, no. 3, pp. 484-500. https://doi.org/10.1111/bju.16432

EBSCOHost PDF Full Text (Wiley-DB) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Academic Journal

Adam, Shelin; du Souich, Christèle; Elliott, Alison M.; Lehman, Anna; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan M.; McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V.K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; 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; Newbury-Ecob, Ruth; 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; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; 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; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Faundes, Víctor ; Newman, William G. ; Bernardini, Laura ; Dallapiccola, Bruno ; Davies, Sally J. ; Demos, Michelle K. ; Goldman, Amy ; Horton, Rachel ; Robertson, Lisa

In The American Journal of Human Genetics 4 January 2018 102(1):175-187

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project

Academic Journal

Stafford-Smith, Bethany; Gurasashvili, Jana; Peter, Michelle; Daniel, Morgan; Balasubramanian, Meena; Bownass, Lucy; Brennan, Paul; Cleaver, Ruth; Clowes, Virginia; Costello, Philandra; DeSouza, Bianca; Dubois, Louise; Harrison, Rachel; Hawkes, Lara; Jones, Elizabeth A.; Kraus, Alison; McEntagart, Meriel; Somarathi, Suresh; Taylor, Amy; Tripathi, Vishakha; Chitty, Lyn S.; Hill, Melissa

European Journal of Human Genetics. :1-10

Full Text (ProQuest) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Academic Journal

Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Arno, Gavin; Fiorentino, Alessia; Ponitkos, Nikos; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J.; Cheetham, Michael E.; Webster, Andrew R.; van Heyningen, Veronica; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Carss, Keren J. ; Hull, Sarah ; Zihni, Ceniz ; Robson, Anthony G. ; Holder, Graham E. ; Moore, Anthony T. ; Matter, Karl ; Balda, Maria S.

In The American Journal of Human Genetics 2 February 2017 100(2):334-342

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Academic Journal

Blanchet, Patricia; Bebin, Martina; Bruet, Shaam; Cooper, Gregory M.; Thompson, Michelle L.; Duban-Bedu, Benedicte; Gerard, Benedicte; Piton, Amelie; Suckno, Sylvie; Deshpande, Charu; Clowes, Virginia; Vogt, Julie; Turnpenny, Peter; Williamson, Michael P.; Alembik, Yves; null, null; Glasgow, Eric; McNeill, Alisdair

PLoS Genetics. 8/31/2017, Vol. 13 Issue 8, p1-23. 23p.

EBSCOHost PDF Full Text (ProQuest) Full Text (ProQuest) Full Text (Gale Academic Onefile) Scopus Find it@PNU

부산대학교 도서관

전자자료 공정이용 안내

공정이용 지침

불공정 이용 사례

위반 시 제재

부산대학교 도서관

학술논문

전자자료 공정이용 안내

공정이용 지침

불공정 이용 사례

위반 시 제재

메일 발송