전남대학교 중앙도서관

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

학술저널

issue: In The Lancet Neurology March 2022 21(3):234-245
Author: McDonagh, Ellen M
Rueda, Antonio
Polychronopoulos, Dimitris
Chan, Georgia
Angus-Leppan, Heather
Bhatia, Kailash P
Davison, James E
Festenstein, Richard
Fratta, Pietro
Giunti, Paola
Howard, Robin
Venkata, Laxmi
Laurá, Matilde
McEntagart, Meriel
Menzies, Lara
Morris, Huw
Reilly, Mary M
Robinson, Robert
Rosser, Elisabeth
Faravelli, Francesca
Schrag, Anette
Schott, Jonathan M
Warner, Thomas T
Wood, Nicholas W
Bourn, David
Eggleton, Kelly
Labrum, Robyn
Twiss, Philip
Abbs, Stephen
Santos, Liana
Almheiri, Ghareesa
Sheikh, Isabella
Vandrovcova, Jana
Patch, Christine
Taylor Tavares, Ana Lisa
Hyder, Zerin
Need, Anna
Brittain, Helen
Baple, Emma
Moutsianas, Loukas
Deshpande, Viraj
Perry, Denise L
Ajay, Subramanian S.
Chawla, Aditi
Rajan, Vani
Oprych, Kathryn
Chinnery, Patrick F
Douglas, Angela
Wilson, Gill
Ellard, Sian
Temple, I Karen
Mumford, Andrew
McMullan, Dom
Naresh, Kikkeri
Flinter, Frances A
Taylor, Jenny C
Greenhalgh, Lynn
Newman, William
Brennan, Paul
Sayer, John A
Raymond, F Lucy
Chitty, Lyn S
Ambrose, John C.
Arumugam, Prabhu
Bleda, Marta
Boardman-Pretty, Freya
Boissiere, Jeanne M.
Boustred, Christopher R.
Craig, Clare E.H.
de Burca, Anna
Devereau, Andrew
Elgar, Greg
Foulger, Rebecca E.
Furió-Tarí, Pedro
Hackett, Joanne
Halai, Dina
Hamblin, Angela
Henderson, Shirley
Holman, James
Hubbard, Tim J.P.
Jackson, Rob
Jones, Louise J.
Kayikci, Melis
Lahnstein, Lea
Lawson, Kay
Leigh, Sarah E.A.
Leong, Ivonne U.S.
Lopez, Javier F.
Maleady-Crowe, Fiona
Mason, Joanne
Mueller, Michael
Murugaesu, Nirupa
Odhams, Chris A.
Perez-Gil, Daniel
Pullinger, John
Rahim, Tahrima
Riesgo-Ferreiro, Pablo
Rogers, Tim
Ryten, Mina
Savage, Kevin
Sawant, Kushmita
Siddiq, Afshan
Sieghart, Alexander
Smedley, Damian
Sosinsky, Alona
Spooner, William
Stevens, Helen E.
Stuckey, Alexander
Sultana, Razvan
Thompson, Simon R.
Tregidgo, Carolyn
Walsh, Emma
Watters, Sarah A.
Welland, Matthew J.
Williams, Eleanor
Witkowska, Katarzyna
Wood, Suzanne M.
Zarowiecki, Magdalena
Ibañez, Kristina
Polke, James ^*
Hagelstrom, R Tanner ^*
Dolzhenko, Egor
Pasko, Dorota
Thomas, Ellen Rachel Amy
Daugherty, Louise C
Kasperaviciute, Dalia
Smith, Katherine R
Deans, Zandra C
Hill, Sue
Fowler, Tom
Scott, Richard H
Hardy, John
Houlden, Henry
Rendon, Augusto
Caulfield, Mark J
Eberle, Michael A
Taft, Ryan J ^**
Tucci, Arianna ^*
DB Label: Database : ScienceDirect

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

학술저널

issue: NEW ENGLAND JOURNAL OF MEDICINE; NOV 11 2021, 385 20, p1868-p1880, 13p.
Author: Smedley, Damian
Smith, Katherine R.
Martin, Antonio
Thomas, Ellen A.
McDonagh, Ellen M.
Cipriani, Valentina
Ellingford, Jamie M.
Arno, Gavin
Tucci, Arianna
Vandrovcova, Jana
Chan, Georgia
Williams, Hywel J.
Ratnaike, Thiloka
Wei, Wei
Stirrups, Kathleen
Ibanez, Kristina
Moutsianas, Loukas
Wielscher, Matthias
Need, Anna
Barnes, Michael R.
Vestito, Letizia
Buchanan, James
Wordsworth, Sarah
Ashford, Sofie
Rehmstrom, Karola
Li, Emily
Fuller, Gavin
Twiss, Philip
Spasic-Boskovic, Olivera
Halsall, Sally
Floto, R. Andres
Poole, Kenneth
Wagner, Annette
Mehta, Sarju G.
Gurnell, Mark
Burrows, Nigel
James, Roger
Penkett, Christopher
Dewhurst, Eleanor
Graf, Stefan
Mapeta, Rutendo
Kasanicki, Mary
Haworth, Andrea
Savage, Helen
Babcock, Melanie
Reese, Martin G.
Bale, Mark
Baple, Emma
Boustred, Christopher
Brittain, Helen
de Burca, Anna
Bleda, Marta
Devereau, Andrew
Halai, Dina
Haraldsdottir, Eik
Hyder, Zerin
Kasperaviciute, Dalia
Patch, Christine
Polychronopoulos, Dimitris
Matchan, Angela
Sultana, Razvan
Ryten, Mina
Tavares, Ana L. T.
Tregidgo, Carolyn
Turnbull, Clare
Welland, Matthew
Wood, Suzanne
Snow, Catherine
Williams, Eleanor
Leigh, Sarah
Foulger, Rebecca E.
Daugherty, Louise C.
Niblock, Olivia
Leong, Ivone U. S.
Wright, Caroline F.
Davies, Jim
Crichton, Charles
Welch, James
Woods, Kerrie
Abulhoul, Lara
Aurora, Paul
Bockenhauer, Detlef
Broomfield, Alexander
Cleary, Maureen A.
Lam, Tanya
Dattani, Mehul
Footitt, Emma
Ganesan, Vijeya
Grunewald, Stephanie
Compeyrot-Lacassagne, Sandrine
Muntoni, Francesco
Pilkington, Clarissa
Quinlivan, Rosaline
Thapar, Nikhil
Wallis, Colin
Wedderburn, Lucy R.
Worth, Austen
Bueser, Teofila
Compton, Cecilia
Deshpande, Charu
Fassihi, Hiva
Haque, Eshika
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Robert, Leema
Rose, Sarah
Ruddy, Deborah
Sarkany, Robert
Say, Genevieve
Shaw, Adam C.
Wolejko, Agata
Habib, Bishoy
Burns, Gavin
Hunter, Sarah
Grocock, Russell J.
Humphray, Sean J.
Robinson, Peter N.
Haendel, Melissa
Simpson, Michael A.
Banka, Siddharth
Clayton-Smith, Jill
Douzgou, Sofia
Hall, Georgina
Thomas, Huw B.
O'Keefe, Raymond T.
Michaelides, Michel
Moore, Anthony T.
Malka, Sam
Pontikos, Nikolas
Browning, Andrew C.
Straub, Volker
Gorman, Grainne S.
Horvath, Rita
Quinton, Richard
Schaefer, Andrew M.
Yu-Wai-Man, Patrick
Turnbull, Doug M.
McFarland, Robert
Taylor, Robert W.
O'Connor, Emer
Yip, Janice
Newland, Katrina
Morris, Huw R.
Polke, James
Wood, Nicholas W.
Campbell, Carolyn
Camps, Carme
Gibson, Kate
Koelling, Nils
Lester, Tracy
Nemeth, Andrea H.
Palles, Claire
Roy, Noemi B. A.
Sen, Arjune
Taylor, John
Cacheiro, Pilar
Jacobsen, Julius O.
Seaby, Eleanor G.
Davison, Val
Chitty, Lyn
Douglas, Angela
Naresh, Kikkeri
McMullan, Dom
Ellard, Sian
Temple, I. Karen
Mumford, Andrew D.
Wilson, Gill
Beales, Phil
Bitner-Glindzicz, Maria
Black, Graeme
Bradley, John R.
Brennan, Paul
Burn, John
Chinnery, Patrick F.
Elliott, Perry
Flinter, Frances
Houlden, Henry
Irving, Melita
Newman, William
Rahman, Shamima
Sayer, John A.
Taylor, Jenny C.
Webster, Andrew R.
Wilkie, Andrew O. M.
Ouwehand, Willem H.
Raymond, F. Lucy
Chisholm, John
Hill, Sue
Bentley, David
Scott, Richard H.
Fowler, Tom
Rendon, Augusto
Caulfield, Mark
10000 Genomes Project Pilot
DB Label: Database : Science Citation Index Expanded

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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

학술저널

issue: In European Journal of Medical Genetics 2009 52(2):94-100
Author: Van der Aa, Nathalie
Rooms, Liesbeth
Vandeweyer, Geert
van den Ende, Jenneke
Reyniers, Edwin
Fichera, Marco
Romano, Corrado
Delle Chiaie, Barbara
Mortier, Geert
Menten, Björn
Destrée, Anne
Maystadt, Isabelle
Männik, Katrin
Kurg, Ants
Reimand, Tiia
McMullan, Dom
Oley, Christine
Brueton, Louise
Bongers, Ernie M.H.F.
van Bon, Bregje W.M.
Pfund, Rolph
Jacquemont, Sebastien
Ferrarini, Alessandra
Martinet, Danielle
Schrander-Stumpel, Connie
Stegmann, Alexander P.A.
Frints, Suzanna G.M.
de Vries, Bert B.A.
Ceulemans, Berten
Kooy, R. Frank
DB Label: Database : ScienceDirect

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Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

학술저널

issue: HUMAN MOLECULAR GENETICS; MAY 1 2016, 25 9, p1836-p1845, 10p.
Author: Smith, Joel
Read, Martin L.
Hoffman, Jon
Brown, Rachel
Bradshaw, Beth
Campbell, Christopher
Cole, Trevor
Navas, Johanna Dieguez
Eatock, Fiona
Gundara, Justin S.
Lian, Eric
Mcmullan, Dom
Morgan, Neil V.
Mulligan, Lois
Morrison, Patrick J.
Robledo, Mercedes
Simpson, Michael A.
Smith, Vicki E.
Stewart, Sue
Trembath, Richard C.
Sidhu, Stan
Togneri, Fiona S.
Wake, Naomi C.
Wallis, Yvonne
Watkinson, John C.
Maher, Eamonn R.
McCabe, Christopher J.
Woodward, Emma R.
DB Label: Database : Science Citation Index Expanded

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Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: A study by the United Kingdom cancer cytogenetics and the children's cancer and leukaemia group

학술저널

issue: GENES CHROMOSOMES & CANCER; MAR 2008, 47 3, p207-p220, 14p.
Author: Roberts, Paul
Burchill, Susan A.
Brownhill, Samantha
Cullinane, Catherine J.
Johnston, Colin
Griffiths, Mike J.
McMullan, Dom J.
Bown, Nick R.
Morris, Stephen R.
Lewis, Ian J.
DB Label: Database : Science Citation Index Expanded

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P58: Genome-wide SNP microarray analysis to detect copy number changes acquired isodisomy: a proof-of-principle study

학술저널

issue: European Journal of Medical Genetics. Oct2005, Vol. 48 Issue 4, p519-519. 1p.
Author: McMullan, Dom¹
Prebble, Emma¹
Walker, Jude¹
Wei, Winbin¹
Tomaney, Lucy¹
Davison, Val¹
Griffiths, Mike¹
DB Label: Database : Academic Search Complete

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