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2
Prevalence and architecture of de novo mutations in developmental disorders 미리보기

학술저널

issue
Nature. Feb 23, 2017 542(7642):433-438
Author
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, Paul A.
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
Ajith Kumar, V. K.
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, Karen I.
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.
DB Label
Database : Journals@OVID
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3
The UK10K project identifies rare variants in health and disease 미리보기

학술저널

issue
Nature. Oct 01, 2015 526(7571):82-90
Author
Walter, Klaudia
Min, Josine L.
Huang, Jie
Crooks, Lucy
Memari, Yasin
Perry, John R. B.
Xu, ChangJiang
Futema, Marta
Lawson, Daniel
Iotchkova, Valentina
Schiffels, Stephan
Hendricks, Audrey E.
Danecek, Petr
Li, Rui
Floyd, James
Wain, Louise V.
Humphries, Steve E.
Barrett, Jeffrey C.
Bala, Senduran
Clapham, Peter
Coates, Guy
Cox, Tony
Daly, Allan
Du, Yuanping
Edkins, Sarah
Ellis, Peter
Flicek, Paul
Guo, Xiaosen
Guo, Xueqin
Huang, Liren
Jackson, David K.
Joyce, Chris
Keane, Thomas
Kolb-Kokocinski, Anja
Langford, Cordelia
Li, Yingrui
Liang, Jieqin
Lin, Hong
Liu, Ryan
Maslen, John
McCarthy, Shane, (co-chair)
Muddyman, Dawn
Quail, Michael A.
Stalker, Jim, (co-chair)
Sun, Jianping
Tian, Jing
Wang, Guangbiao
Wang, Jun
Wang, Yu
Wong, Kim
Zhang, Pingbo
Birney, Ewan
Boustred, Chris
Chen, Lu
Clement, Gail
Cocca, Massimiliano
Smith, George Davey
Day, Ian N. M.
Day-Williams, Aaron
Down, Thomas
Dunham, Ian
Evans, David M.
Gaunt, Tom R.
Geihs, Matthias
Hart, Deborah
Howie, Bryan
Hubbard, Tim
Hysi, Pirro
Jamshidi, Yalda
Karczewski, Konrad J.
Kemp, John P.
Lachance, Genevieve
Lek, Monkol
Lopes, Margarida
MacArthur, Daniel G.
Marchini, Jonathan
Mangino, Massimo
Mathieson, Iain
Metrustry, Sarah
Moayyeri, Alireza
Northstone, Kate
Panoutsopoulou, Kalliope
Paternoster, Lavinia
Quaye, Lydia
Richards, Brent J., (co-chair)
Ring, Susan
Ritchie, Graham R. S.
Shihab, Hashem A.
Shin, So-Youn
Small, Kerrin S.
Artigas, María Soler
Soranzo, Nicole, (co-chair)
Southam, Lorraine
Spector, Timothy D.
St Pourcain, Beate
Surdulescu, Gabriela
Tachmazidou, Ioanna
Timpson, Nicholas J., (co-chair)
Tobin, Martin D.
Valdes, Ana M.
Visscher, Peter M.
Ward, Kirsten
Wilson, Scott G.
Yang, Jian
Zhang, Feng
Zheng, Hou-Feng
Anney, Richard
Ayub, Muhammad
Blackwood, Douglas
Bolton, Patrick F.
Breen, Gerome
Collier, David A.
Craddock, Nick
Curran, Sarah
Curtis, David
Gallagher, Louise
Geschwind, Daniel
Gurling, Hugh
Holmans, Peter
Lee, Irene
Lönnqvist, Jouko
McGuffin, Peter
McIntosh, Andrew M.
McKechanie, Andrew G.
McQuillin, Andrew
Morris, James
OʼDonovan, Michael C.
Owen, Michael J., (co-chair)
Palotie, Aarno, (co-chair)
Parr, Jeremy R.
Paunio, Tiina
Pietilainen, Olli
Rehnström, Karola
Sharp, Sally I.
Skuse, David
St Clair, David
Suvisaari, Jaana
Walters, James T. R.
Williams, Hywel J.
Barroso, Inês, (co-chair)
Bochukova, Elena
Bounds, Rebecca
Dominiczak, Anna
Farooqi, Sadaf I., (co-chair)
Keogh, Julia
Marenne, Gaëlle
Morris, Andrew
OʼRahilly, Stephen
Porteous, David J.
Smith, Blair H.
Wheeler, Eleanor
Al Turki, Saeed
Anderson, Carl A.
Antony, Dinu
Beales, Phil
Bentham, Jamie
Bhattacharya, Shoumo
Calissano, Mattia
Carss, Keren
Chatterjee, Krishna
Cirak, Sebahattin
Cosgrove, Catherine
Fitzpatrick, David R., (co-chair)
Foley, Reghan A.
Franklin, Christopher S.
Grozeva, Detelina
Hurles, Matthew E., (co-chair)
Mitchison, Hannah M.
Muntoni, Francesco
Onoufriadis, Alexandros
Parker, Victoria
Payne, Felicity
Raymond, Lucy F.
Roberts, Nicola
Savage, David B.
Scambler, Peter
Schmidts, Miriam
Schoenmakers, Nadia
Semple, Robert K.
Serra, Eva
Spasic-Boskovic, Olivera
Stevens, Elizabeth
van Kogelenberg, Margriet
Vijayarangakannan, Parthiban
Williamson, Kathleen A.
Wilson, Crispian
Whyte, Tamieka
Ciampi, Antonio
Greenwood, Celia M. T., (co-chair)
Oualkacha, Karim
Zeggini, Eleftheria, (co-chair)
Bobrow, Martin
Griffin, Heather
Kaye, Jane, (co-chair)
Kennedy, Karen
Kent, Alastair
Smee, Carol
Charlton, Ruth
Ekong, Rosemary
Khawaja, Farrah
Lopes, Luis R.
Migone, Nicola
Payne, Stewart J.
Plagnol, Vincent, (chair)
Pollitt, Rebecca C.
Povey, Sue
Ridout, Cheryl K.
Robinson, Rachel L.
Scott, Richard H.
Shaw, Adam
Syrris, Petros
Taylor, Rohan
Vandersteen, Anthony M.
Durbin, Richard, (chair)
Amuzu, Antoinette
Casas, Juan Pablo
Chambers, John C.
Dedoussis, George
Gambaro, Giovanni
Gasparini, Paolo
Isaacs, Aaron
Johnson, Jon
Kleber, Marcus E.
Kooner, Jaspal S.
Langenberg, Claudia
Luan, Jianʼan
Malerba, Giovanni
März, Winfried
Matchan, Angela
Morris, Richard
Nordestgaard, Børge G.
Benn, Marianne
Scott, Robert A.
Toniolo, Daniela
Traglia, Michela
Tybjaerg-Hansen, Anne
van Duijn, Cornelia M.
van Leeuwen, Elisabeth M.
Varbo, Anette
Whincup, Peter
Zaza, Gianluigi
Zhang, Weihua
DB Label
Database : Journals@OVID
원문보기
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4
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 미리보기

학술저널

issue
AMERICAN JOURNAL OF HUMAN GENETICS; JUN 6 2019, 104 6, p1210-p1222, 13p.
Author
O'Donnell-Luria, Anne H.
Pais, Lynn S.
Faundes, Victor
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
Cox, Helen
Culliton, Lisa
Curro, Aurora
Demurger, Florence
Dowling, James J.
Duban-Bedu, Benedicte
Dubourg, Christele
Eiset, Saga Elise
Escobar, Luis F.
Ferrarini, Alessandra
Haack, Tobias B.
Hashim, Mona
Heide, Solveig
Helbig, Katherine L.
Helbig, Ingo
Heredia, Raul
Heron, Delphine
Isidor, Bertrand
Jonasson, Amy R.
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester Y.
Lavillaureix, Alinoe
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
Vogt, Julie
Weber, Yvonne G.
Wentzensen, Ingrid M.
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Banka, Siddharth
Rodan, Lance H.
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
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
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
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
Nellaker, Chris
Parker, Michael
Firth, Helen V.
Wright, Caroline F.
FitzPatrick, David R.
Barrett, Jeffrey C.
Hurles, Matthew E.
Deciphering Dev Disorders DDD
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5
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) 미리보기

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issue
NATURE COMMUNICATIONS; MAY 2 2019, 10 p2079 4p.
Author
Blok, Lot Snijders
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.
Cohen, Ana S. A.
Agbahovbe, Ruky
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, Boris
Nava, Caroline
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, Andre
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
Van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, Sandra
Deriziotis, Pelagia
Faivre, Laurence
Thevenon, Julien
Assoum, Mirna
Shriberg, Lawrence
Kleefstra, Tjitske
Brunner, Han G.
Wade, Paul A.
Fisher, Simon E.
Campeau, Philippe 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
Ben Hutton
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
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J.
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T.
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellaker, Chris
Parker, Michael
Firth, Helen V.
Wright, Caroline F.
FitzPatrick, David R.
Barrett, Jeffrey C.
Hurles, Matthew E.
DDD Study
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6
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis 미리보기

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issue
NATURE COMMUNICATIONS; APR 12 2019, 10 p1718 14p.
Author
Yang, Yongjie
van der Klaauw, Agatha A.
Zhu, Liangru
Cacciottolo, Tessa M.
He, Yanlin
Stadler, Lukas K. J.
Wang, Chunmei
Xu, Pingwen
Saito, Kenji
Hinton, Antentor
Yan, Xiaofeng
Keogh, Julia M.
Henning, Elana
Banton, Matthew C.
Hendricks, Audrey E.
Bochukova, Elena G.
Mistry, Vanisha
Lawler, Katherine L.
Liao, Lan
Xu, Jianming
O'Rahilly, Stephen
Tong, Qingchun
Barroso, Ines
O'Malley, Bert W.
Farooqi, I. Sadaf
Xu, Yong
Balasubramanian, Senduran
Clapham, Peter
Coates, Guy
Cox, Tony
Daly, Allan
Danecek, Petr
Du, Yuanping
Durbin, Richard
Edkins, Sarah
Ellis, Peter
Flicek, Paul
Guo, Xiaosen
Guo, Xueqin
Huang, Liren
Jackson, David K.
Joyce, Chris
Keane, Thomas
Kolb-Kokocinski, Anja
Langford, Cordelia
Li, Yingrui
Liang, Jieqin
Lin, Hong
Liu, Ryan
Maslen, John
McCarthy, Shane
Muddyman, Dawn
Quail, Michael A.
Stalker, Jim
Sun, Jianping
Tian, Jing
Wang, Guangbiao
Wang, Jun
Wang, Yu
Wong, Kim
Zhang, Pingbo
Birney, Ewan
Boustred, Chris
Brion, Marie-Jo
Chen, Lu
Clement, Gail
Smith, George Davey
Day, Ian N. M.
Day-Williams, Aaron
Down, Thomas
Dunham, Ian
Evans, David M.
Fatemifar, Ghazaleh
Gaunt, Tom R.
Geihs, Matthias
Greenwood, Celia M. T.
Hart, Deborah
Howie, Bryan
Huang, Jie
Hubbard, Tim
Hysi, Pirro
Iotchkova, Valentina
Jamshidi, Yalda
Kemp, John P.
Lachance, Genevieve
Lawson, Daniel
Lek, Monkol
Lopes, Margarida
MacArthur, Daniel G.
Marchini, Jonathan
Massimo, Mangino
Mathieson, Iain
Memari, Yasin
Metrustry, Sarah
Min, Josine L.
Moayyeri, Alireza
Northstone, Kate
Panoutsopoulou, Kalliope
Paternoster, Lavinia
Perry, John R. B.
Quaye, Lydia
Richards, J. Brent
Ring, Susan
Ritchie, Graham R. S.
Schiffels, Stephan
Shihab, Hashem A.
Shin, So-Youn
Small, Kerrin S.
Artigas, Maria Soler
Soranzo, Nicole
Southam, Lorraine
Spector, Timothy D.
St Pourcain, Beate
Surdulescu, Gabriela
Tachmazidou, Ioanna
Timpson, Nicholas J.
Tobin, Martin D.
Valdes, Ana M.
Visscher, Peter M.
Wain, Louise V.
Walter, Klaudia
Ward, Kirsten
Wilson, Scott G.
Yang, Jian
Zeggini, Eleftheria
Zhang, Feng
Zheng, Hou-Feng
Anney, Richard
Ayub, Muhammad
Barrett, Jeffrey C.
Blackwood, Douglas
Bolton, Patrick F.
Breen, Gerome
Collier, David A.
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Curtis, David
Gallagher, Louise
Geschwind, Daniel
Gurling, Hugh
Holmans, Peter
Lee, Irene
Lonnqvist, Jouko
McGuffin, Peter
McIntosh, Andrew M.
McKechanie, Andrew G.
McQuillin, Andrew
Morris, James
O'Donovan, Michael C.
Owen, Michael J.
Palotie, Aarno
Parr, Jeremy R.
Paunio, Tiina
Pietilainen, Olli
Rehnstrom, Karola
Sharp, Sally I.
Skuse, David
St Clair, David
Suvisaari, Jaana
Walters, James T. R.
Williams, Hywel J.
Bochukova, Elena
Bounds, Rebecca
Dominiczak, Anna
Keogh, Julia
Marenne, Gaelle
Morris, Andrew
Porteous, David J.
Smith, Blair H.
Wheeler, Eleanor
Al Turki, Saeed
Anderson, Carl A.
Antony, Dinu
Beales, Phil
Bentham, Jamie
Bhattacharya, Shoumo
Calissano, Mattia
Carss, Keren
Chatterjee, Krishna
Cirak, Sebahattin
Cosgrove, Catherine
Fitzpatrick, David R.
Floyd, James
Foley, A. Reghan
Franklin, Christopher S.
Futema, Marta
Grozeva, Detelina
Humphries, Steve E.
Hurles, Matthew E.
Mitchison, Hannah M.
Muntoni, Francesco
Onoufriadis, Alexandros
Parker, Victoria
Payne, Felicity
Plagnol, Vincent
Raymond, F. Lucy
Roberts, Nicola
Savage, David B.
Scambler, Peter
Schmidts, Miriam
Schoenmakers, Nadia
Semple, Robert K.
Serra, Eva
Spasic-Boskovic, Olivera
Stevens, Elizabeth
van Kogelenberg, Margriet
Vijayarangakannan, Parthiban
Williamson, Kathleen A.
Wilson, Crispian
Whyte, Tamieka
Ciampi, Antonio
Li, Rui
Oualkacha, Karim
Xu, ChangJiang
Bobrow, Martin
Griffin, Heather
Kaye, Jane
Kennedy, Karen
Kent, Alastair
Smee, Carol
Charlton, Ruth
Ekong, Rosemary
Khawaja, Farrah
Lopes, Luis R.
Migone, Nicola
Payne, Stewart J.
Pollitt, Rebecca C.
Povey, Sue
Ridout, Cheryl K.
Robinson, Rachel L.
Scott, Richard H.
Shaw, Adam
Syrris, Petros
Taylor, Rohan
Vandersteen, Anthony M.
Amuzu, Antoinette
Casas, Juan Pablo
Chambers, John C.
Cocca, Massimiliano
Dedoussis, George
Gambaro, Giovanni
Gasparini, Paolo
Isaacs, Aaron
Johnson, Jon
Kleber, Marcus E.
Kooner, Jaspal S.
Langenberg, Claudia
Luan, Jian'an
Malerba, Giovanni
Marz, Winfried
Matchan, Angela
Morris, Richard
Nordestgaard, Borge G.
Benn, Marianne
Scott, Robert A.
Toniolo, Daniela
Traglia, Michela
Tybjaerg-Hansen, Anne
van Duijn, Cornelia M.
van Leeuwen, Elisabeth M.
Varbo, Anette
Whincup, Peter
Zaza, Gianluigi
Zhang, Weihua
UK10K Consortium
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7
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume 미리보기

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issue
NATURE COMMUNICATIONS; JAN 21 2019, 10 p357 16p.
Author
Haworth, Simon
Shapland, Chin Yang
Hayward, Caroline
Prins, Bram P.
Felix, Janine F.
Medina-Gomez, Carolina
Rivadeneira, Fernando
Wang, Carol
Ahluwalia, Tarunveer S.
Vrijheid, Martine
Guxens, Monica
Sunyer, Jordi
Tachmazidou, Ioanna
Walter, Klaudia
Iotchkova, Valentina
Jackson, Andrew
Cleal, Louise
Huffmann, Jennifer
Min, Josine L.
Sass, Laerke
Timmers, Paul R. H. J.
Al Turki, Saeed
Anderson, Carl A.
Anney, Richard
Antony, Dinu
Artigas, Maria Soler
Ayub, Muhammad
Bala, Senduran
Barrett, Jeffrey C.
Barroso, Ines
Beales, Phil
Bentham, Jamie
Bhattacharya, Shoumo
Birney, Ewan
Blackwood, Douglas
Bobrow, Martin
Bochukova, Elena
Bolton, Patrick F.
Bounds, Rebecca
Boustred, Chris
Breen, Gerome
Calissano, Mattia
Carss, Keren
Charlton, Ruth
Chatterjee, Krishna
Chen, Lu
Ciampi, Antonio
Cirak, Sebahattin
Clapham, Peter
Clement, Gail
Coates, Guy
Cocca, Massimiliano
Collier, David A.
Cosgrove, Catherine
Cox, Tony
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Curtis, David
Daly, Allan
Danecek, Petr
Day, Ian N. M.
Day-Williams, Aaron
Dominiczak, Anna
Down, Thomas
Du, Yuanping
Dunham, Ian
Durbin, Richard
Edkins, Sarah
Ekong, Rosemary
Ellis, Peter
Evans, David M.
Farooqi, I. Sadaf
Fitzpatrick, David R.
Flicek, Paul
Floyd, James
Foley, A. Reghan
Franklin, Christopher S.
Futema, Marta
Gallagher, Louise
Gaunt, Tom R.
Geihs, Matthias
Geschwind, Daniel
Greenwood, Celia M. T.
Griffin, Heather
Grozeva, Detelina
Guo, Xiaosen
Guo, Xueqin
Gurling, Hugh
Hart, Deborah
Hendricks, Audrey E.
Holmans, Peter
Howie, Bryan
Huang, Jie
Huang, Liren
Hubbard, Tim
Humphries, Steve E.
Hurles, Matthew E.
Hysi, Pirro
Jackson, David K.
Jamshidi, Yalda
Joyce, Chris
Karczewski, Konrad J.
Kaye, Jane
Keane, Thomas
Kemp, John P.
Kennedy, Karen
Kent, Alastair
Keogh, Julia
Khawaja, Farrah
van Kogelenberg, Margriet
Kolb-Kokocinski, Anja
Lachance, Genevieve
Langford, Cordelia
Lawson, Daniel
Lee, Irene
Lek, Monkol
Li, Rui
Li, Yingrui
Liang, Jieqin
Lin, Hong
Liu, Ryan
Lonnqvist, Jouko
Lopes, Luis R.
Lopes, Margarida
MacArthur, Daniel G.
Mangino, Massimo
Marchini, Jonathan
Marenne, Gaelle
Maslen, John
Mathieson, Iain
McCarthy, Shane
McGuffin, Peter
McIntosh, Andrew M.
McKechanie, Andrew G.
McQuillin, Andrew
Memari, Yasin
Metrustry, Sarah
Migone, Nicola
Mitchison, Hannah M.
Moayyeri, Alireza
Morris, Andrew
Morris, James
Muddyman, Dawn
Muntoni, Francesco
Northstone, Kate
O'Donovan, Michael C.
O'Rahilly, Stephen
Onoufriadis, Alexandros
Oualkacha, Karim
Owen, Michael J.
Palotie, Aarno
Panoutsopoulou, Kalliope
Parker, Victoria
Parr, Jeremy R.
Paternoster, Lavinia
Paunio, Tiina
Payne, Felicity
Payne, Stewart J.
Perry, John R. B.
Pietilainen, Olli
Plagnol, Vincent
Pollitt, Rebecca C.
Porteous, David J.
Povey, Sue
Quail, Michael A.
Quaye, Lydia
Raymond, F. Lucy
Rehnstrom, Karola
Richards, J. Brent
Ridout, Cheryl K.
Ring, Susan
Ritchie, Graham R. S.
Roberts, Nicola
Robinson, Rachel L.
Savage, David B.
Scambler, Peter
Schiffels, Stephan
Schmidts, Miriam
Schoenmakers, Nadia
Scott, Richard H.
Semple, Robert K.
Serra, Eva
Sharp, Sally I.
Shaw, Adam
Shihab, Hashem A.
Shin, So-Youn
Skuse, David
Small, Kerrin S.
Smee, Carol
Smith, Blair H.
Soranzo, Nicole
Southam, Lorraine
Spasic-Boskovic, Olivera
Spector, Timothy D.
St Clair, David
Stalker, Jim
Stevens, Elizabeth
Sun, Jianping
Surdulescu, Gabriela
Suvisaari, Jaana
Syrris, Petros
Taylor, Rohan
Tian, Jing
Tobin, Martin D.
Valdes, Ana M.
Vandersteen, Anthony M.
Vijayarangakannan, Parthiban
Visscher, Peter M.
Wain, Louise V.
Walters, James T. R.
Wang, Guangbiao
Wang, Jun
Wang, Yu
Ward, Kirsten
Wheeler, Eleanor
Whyte, Tamieka
Williams, Hywel J.
Williamson, Kathleen A.
Wilson, Crispian
Wilson, Scott G.
Wong, Kim
Xu, ChangJiang
Yang, Jian
Zhang, Feng
Zhang, Pingbo
Zheng, Hou-Feng
Smith, George Davey
Fisher, Simon E.
Wilson, James F.
Cole, Tim J.
Fernandez-Orth, Dietmar
Bonnelykke, Klaus
Bisgaard, Hans
Pennell, Craig E.
Jaddoe, Vincent W. V.
Dedoussis, George
Timpson, Nicholas
Zeggini, Eleftheria
Vitart, Veronique
St Pourcain, Beate
UK10K Consortium
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8
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel 미리보기

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issue
Huang, J., B. Howie, S. McCarthy, Y. Memari, K. Walter, J. L. Min, P. Danecek, et al. 2015. “Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.” Nature Communications 6 (1): 8111. doi:10.1038/ncomms9111. http://dx.doi.org/10.1038/ncomms9111.
Author
Huang, Jie
Howie, Bryan
McCarthy, Shane
Memari, Yasin
Walter, Klaudia
Min, Josine L.
Danecek, Petr
Malerba, Giovanni
Trabetti, Elisabetta
Zheng, Hou-Feng
Al Turki, Saeed
Amuzu, Antoinette
Anderson, Carl A.
Anney, Richard
Antony, Dinu
Artigas, María Soler
Ayub, Muhammad
Bala, Senduran
Barrett, Jeffrey C.
Barroso, Inês
Beales, Phil
Benn, Marianne
Bentham, Jamie
Bhattacharya, Shoumo
Birney, Ewan
Blackwood, Douglas
Bobrow, Martin
Bochukova, Elena
Bolton, Patrick F.
Bounds, Rebecca
Boustred, Chris
Breen, Gerome
Calissano, Mattia
Carss, Keren
Pablo Casas, Juan
Chambers, John C.
Charlton, Ruth
Chatterjee, Krishna
Chen, Lu
Ciampi, Antonio
Cirak, Sebahattin
Clapham, Peter
Clement, Gail
Coates, Guy
Cocca, Massimiliano
Collier, David A.
Cosgrove, Catherine
Cox, Tony
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Curtis, David
Daly, Allan
Day, Ian N. M.
Day-Williams, Aaron
Dedoussis, George
Down, Thomas
Du, Yuanping
van Duijn, Cornelia M.
Dunham, Ian
Edkins, Sarah
Ekong, Rosemary
Ellis, Peter
Evans, David M.
Farooqi, I. Sadaf
Fitzpatrick, David R.
Flicek, Paul
Floyd, James
Foley, A. Reghan
Franklin, Christopher S.
Futema, Marta
Gallagher, Louise
Gasparini, Paolo
Gaunt, Tom R.
Geihs, Matthias
Geschwind, Daniel
Greenwood, Celia
Griffin, Heather
Grozeva, Detelina
Guo, Xiaosen
Guo, Xueqin
Gurling, Hugh
Hart, Deborah
Hendricks, Audrey E.
Holmans, Peter
Huang, Liren
Hubbard, Tim
Humphries, Steve E.
Hurles, Matthew E.
Hysi, Pirro
Iotchkova, Valentina
Isaacs, Aaron
Jackson, David K.
Jamshidi, Yalda
Johnson, Jon
Joyce, Chris
Karczewski, Konrad J.
Kaye, Jane
Keane, Thomas
Kemp, John P.
Kennedy, Karen
Kent, Alastair
Keogh, Julia
Khawaja, Farrah
Kleber, Marcus E.
van Kogelenberg, Margriet
Kolb-Kokocinski, Anja
Kooner, Jaspal S.
Lachance, Genevieve
Langenberg, Claudia
Langford, Cordelia
Lawson, Daniel
Lee, Irene
van Leeuwen, Elisabeth M.
Lek, Monkol
Li, Rui
Li, Yingrui
Liang, Jieqin
Lin, Hong
Liu, Ryan
Lönnqvist, Jouko
Lopes, Luis R.
Lopes, Margarida
Luan, Jian'an
MacArthur, Daniel G.
Mangino, Massimo
Marenne, Gaëlle
März, Winfried
Maslen, John
Matchan, Angela
Mathieson, Iain
McGuffin, Peter
McIntosh, Andrew M.
McKechanie, Andrew G.
McQuillin, Andrew
Metrustry, Sarah
Migone, Nicola
Mitchison, Hannah M.
Moayyeri, Alireza
Morris, James
Morris, Richard
Muddyman, Dawn
Muntoni, Francesco
Nordestgaard, Børge G.
Northstone, Kate
O'Donovan, Michael C.
O'Rahilly, Stephen
Onoufriadis, Alexandros
Oualkacha, Karim
Owen, Michael J.
Palotie, Aarno
Panoutsopoulou, Kalliope
Parker, Victoria
Parr, Jeremy R.
Paternoster, Lavinia
Paunio, Tiina
Payne, Felicity
Payne, Stewart J.
Perry, John R. B.
Pietilainen, Olli
Plagnol, Vincent
Pollitt, Rebecca C.
Povey, Sue
Quail, Michael A.
Quaye, Lydia
Raymond, Lucy
Rehnström, Karola
Ridout, Cheryl K.
Ring, Susan
Ritchie, Graham R. S.
Roberts, Nicola
Robinson, Rachel L.
Savage, David B.
Scambler, Peter
Schiffels, Stephan
Schmidts, Miriam
Schoenmakers, Nadia
Scott, Richard H.
Scott, Robert A.
Semple, Robert K.
Serra, Eva
Sharp, Sally I.
Shaw, Adam
Shihab, Hashem A.
Shin, So-Youn
Skuse, David
Small, Kerrin S.
Smee, Carol
Smith, George Davey
Southam, Lorraine
Spasic-Boskovic, Olivera
Spector, Timothy D.
St Clair, David
St Pourcain, Beate
Stalker, Jim
Stevens, Elizabeth
Sun, Jianping
Surdulescu, Gabriela
Suvisaari, Jaana
Syrris, Petros
Tachmazidou, Ioanna
Taylor, Rohan
Tian, Jing
Tobin, Martin D.
Toniolo, Daniela
Traglia, Michela
Tybjaerg-Hansen, Anne
Valdes, Ana M.
Vandersteen, Anthony M.
Varbo, Anette
Vijayarangakannan, Parthiban
Visscher, Peter M.
Wain, Louise V.
Walters, James T. R.
Wang, Guangbiao
Wang, Jun
Wang, Yu
Ward, Kirsten
Wheeler, Eleanor
Whincup, Peter
Whyte, Tamieka
Williams, Hywel J.
Williamson, Kathleen A.
Wilson, Crispian
Wilson, Scott G.
Wong, Kim
Xu, ChangJiang
Yang, Jian
Zaza, Gianluigi
Zeggini, Eleftheria
Zhang, Feng
Zhang, Pingbo
Zhang, Weihua
Gambaro, Giovanni
Richards, J. Brent
Durbin, Richard
Timpson, Nicholas J.
Marchini, Jonathan
Soranzo, Nicole
DB Label
Database : Digital Access to Scholarship at Harvard (DASH)
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9
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport 미리보기

학술저널

issue
Schmidts, M., Y. Hou, C. R. Cortés, D. A. Mans, C. Huber, K. Boldt, M. Patel, et al. 2015. “TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.” Nature Communications 6 (1): 7074. doi:10.1038/ncomms8074. http://dx.doi.org/10.1038/ncomms8074.
Author
Schmidts, Miriam
Hou, Yuqing
Cortés, Claudio R.
Mans, Dorus A.
Huber, Celine
Boldt, Karsten
Patel, Mitali
van Reeuwijk, Jeroen
Plaza, Jean-Marc
van Beersum, Sylvia E. C.
Yap, Zhi Min
Letteboer, Stef J. F.
Taylor, S. Paige
Herridge, Warren
Johnson, Colin A.
Scambler, Peter J.
Ueffing, Marius
Kayserili, Hulya
Krakow, Deborah
King, Stephen M.
Beales, Philip L.
Al-Gazali, Lihadh
Wicking, Carol
Cormier-Daire, Valerie
Roepman, Ronald
Mitchison, Hannah M.
Witman, George B.
Al-Turki, Saeed
Anderson, Carl
Anney, Richard
Antony, Dinu
Asimit, Jennifer
Ayub, Mohammad
Barrett, Jeff
Barroso, Inês
Bentham, Jamie
Bhattacharya, Shoumo
Blackwood, Douglas
Bobrow, Martin
Bochukova, Elena
Bolton, Patrick
Boustred, Chris
Breen, Gerome
Brion, Marie-Jo
Brown, Andrew
Calissano, Mattia
Carss, Keren
Chatterjee, Krishna
Chen, Lu
Cirak, Sebhattin
Clapham, Peter
Clement, Gail
Coates, Guy
Collier, David
Cosgrove, Catherine
Cox, Tony
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Daly, Allan
Danecek, Petr
Smith, George Davey
Day-Williams, Aaron
Day, Ian
Durbin, Richard
Edkins, Sarah
Ellis, Peter
Evans, David
Farooqi, I. Sadaf
Fatemifar, Ghazaleh
Fitzpatrick, David
Flicek, Paul
Floyd, Jamie
Foley, A. Reghan
Franklin, Chris
Futema, Marta
Gallagher, Louise
Gaunt, Tom
Geschwind, Daniel
Greenwood, Celia
Grozeva, Detelina
Guo, Xiaosen
Gurling, Hugh
Hart, Deborah
Hendricks, Audrey
Holmans, Peter
Huang, Jie
Humphries, Steve E.
Hurles, Matt
Hysi, Pirro
Jackson, David
Jamshidi, Yalda
Jewell, David
Chris, Joyce
Kaye, Jane
Keane, Thomas
Kemp, John
Kennedy, Karen
Kent, Alastair
Kolb-Kokocinski, Anja
Lachance, Genevieve
Langford, Cordelia
Lee, Irene
Li, Rui
Li, Yingrui
Ryan, Liu
Lönnqvist, Jouko
Lopes, Margarida
MacArthur, Daniel G.
Massimo, Mangino
Marchini, Jonathan
Maslen, John
McCarthy, Shane
McGuffin, Peter
McIntosh, Andrew
McKechanie, Andrew
McQuillin, Andrew
Memari, Yasin
Metrustry, Sarah
Min, Josine
Moayyeri, Alireza
Morris, James
Muddyman, Dawn
Muntoni, Francesco
Northstone, Kate
O'Donovan, Michael
O'Rahilly, Stephen
Onoufriadis, Alexandros
Oualkacha, Karim
Owen, Michael
Palotie, Aarno
Panoutsopoulou, Kalliope
Parker, Victoria
Parr, Jeremy
Paternoster, Lavinia
Paunio, Tiina
Payne, Felicity
Perry, John
Pietilainen, Olli
Plagnol, Vincent
Quail, Michael A.
Quaye, Lydia
Raymond, Lucy
Rehnström, Karola
Brent Richards, J.
Ring, Sue
Ritchie, Graham R S
Savage, David B.
Schoenmakers, Nadia
Semple, Robert K.
Serra, Eva
Shihab, Hashem
Shin, So-Youn
Skuse, David
Small, Kerrin
Smee, Carol
Soler, Artigas María
Soranzo, Nicole
Southam, Lorraine
Spector, Tim
St Pourcain, Beate
St. Clair, David
Stalker, Jim
Surdulescu, Gabriela
Suvisaari, Jaana
Tachmazidou, Ioanna
Tian, Jing
Timpson, Nic
Tobin, Martin
Valdes, Ana
van Kogelenberg, Margriet
Vijayarangakannan, Parthiban
Wain, Louise
Walter, Klaudia
Wang, Jun
Ward, Kirsten
Wheeler, Ellie
Whittall, Ros
Williams, Hywel
Williamson, Kathy
Wilson, Scott G.
Wong, Kim
Whyte, Tamieka
ChangJiang, Xu
Zeggini, Eleftheria
Zhang, Feng
Zheng, Hou-Feng
DB Label
Database : Digital Access to Scholarship at Harvard (DASH)
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10
Whole-genome sequence-based analysis of thyroid function 미리보기

학술저널

issue
Taylor, P. N., E. Porcu, S. Chew, P. J. Campbell, M. Traglia, S. J. Brown, B. H. Mullin, et al. 2015. “Whole-genome sequence-based analysis of thyroid function.” Nature Communications 6 (1): 5681. doi:10.1038/ncomms6681. http://dx.doi.org/10.1038/ncomms6681.
Author
Taylor, Peter N.
Porcu, Eleonora
Chew, Shelby
Campbell, Purdey J.
Traglia, Michela
Brown, Suzanne J.
Mullin, Benjamin H.
Shihab, Hashem A.
Min, Josine
Walter, Klaudia
Memari, Yasin
Huang, Jie
Barnes, Michael R.
Beilby, John P.
Charoen, Pimphen
Danecek, Petr
Dudbridge, Frank
Forgetta, Vincenzo
Greenwood, Celia
Grundberg, Elin
Johnson, Andrew D.
Hui, Jennie
Lim, Ee M.
McCarthy, Shane
Muddyman, Dawn
Panicker, Vijay
Perry, John R.B.
Bell, Jordana T.
Yuan, Wei
Relton, Caroline
Gaunt, Tom
Schlessinger, David
Abecasis, Goncalo
Cucca, Francesco
Surdulescu, Gabriela L.
Woltersdorf, Wolfram
Zeggini, Eleftheria
Zheng, Hou-Feng
Toniolo, Daniela
Dayan, Colin M.
Naitza, Silvia
Walsh, John P.
Spector, Tim
Davey Smith, George
Durbin, Richard
Brent Richards, J.
Sanna, Serena
Soranzo, Nicole
Timpson, Nicholas J.
Wilson, Scott G.
Turki, Saeed Al
Anderson, Carl
Anney, Richard
Antony, Dinu
Artigas, Maria Soler
Ayub, Muhammad
Balasubramaniam, Senduran
Barrett, Jeffrey C.
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.
Hurles, Matthew 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
Lotchkova, 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
Quai, Michael A.
Raymond, Lucy
Rehnström, Karola
Richards, Brent
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
Clair, David St
Stalker, Jim
Stevens, Elizabeth
Pourcian, Beate St
Sun, Jianping
Suvisaari, Jaana
Tachmazidou, Ionna
Tobin, Martin D.
Valdes, Ana
Kogelenberg, Margriet Van
Vijayarangakannan, Parthiban
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
DB Label
Database : Digital Access to Scholarship at Harvard (DASH)
원문보기
OA (Springer)  OA (Nature)  Open Access (DASH)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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