전남대학교 중앙도서관

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

학술저널

issue: American Journal of Human Genetics. 104(6)
Author: O’Donnell-Luria, Anne H
Pais, Lynn S
Faundes, Víctor
Wood, Jordan C
Sveden, Abigail
Luria, Victor
Jamra, Rami Abou
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
Currò, Aurora
Study, Deciphering Developmental Disorders
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
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
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Prevalence and architecture of de novo mutations in developmental disorders

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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Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

학술저널

issue: NATURE COMMUNICATIONS; DEC 25 2020, 11 1, p5976 14p.
Author: Steinthorsdottir, Valgerdur
McGinnis, Ralph
Williams, Nicholas O.
Stefansdottir, Lilja
Thorleifsson, Gudmar
Shooter, Scott
Fadista, Joao
Sigurdsson, Jon K.
Auro, Kirsi M.
Berezina, Galina
Borges, Maria-Carolina
Bumpstead, Suzannah
Bybjerg-Grauholm, Jonas
Colgiu, Irina
Dolby, Vivien A.
Dudbridge, Frank
Engel, Stephanie M.
Franklin, Christopher S.
Frigge, Michael L.
Frisbaek, Yr
Geirsson, Reynir T.
Geller, Frank
Gretarsdottir, Solveig
Gudbjartsson, Daniel F.
Harmon, Quaker
Hougaard, David Michael
Hegay, Tatyana
Helgadottir, Anna
Hjartardottir, Sigrun
Jaeaeskelaeinen, Tiina
Johannsdottir, Hrefna
Jonsdottir, Ingileif
Juliusdottir, Thorhildur
Kalsheker, Noor
Kasimov, Abdumadjit
Kemp, John P.
Kivinen, Katja
Klungsoyr, Kari
Lee, Wai K.
Melbye, Mads
Miedzybrodska, Zosia
Moffett, Ashley
Najmutdinova, Dilbar
Nishanova, Firuza
Olafsdottir, Thorunn
Perola, Markus
Pipkin, Fiona Broughton
Poston, Lucilla
Prescott, Gordon
Saevarsdottir, Saedis
Salimbayeva, Damilya
Scaife, Paula Juliet
Skotte, Line
Staines-Urias, Eleonora
Stefansson, Olafur A.
Sorensen, Karina Meden
Thomsen, Liv Cecilie Vestrheim
Tragante, Vinicius
Trogstad, Lill
Simpson, Nigel A. B.
Laivuori, Hannele
Morgan, Linda
Aripova, Tamara
Casas, Juan P.
Dominiczak, Anna F.
Walker, James J.
Thorsteinsdottir, Unnur
Iversen, Ann-Charlotte
Feenstra, Bjarke
Lawlor, Deborah A.
Boyd, Heather Allison
Magnus, Per
Zakhidova, Nodira
Svyatova, Gulnara
Stefansson, Kari
Heinonen, Seppo
Kajantie, Eero
Kere, Juha
Pouta, Anneli
Macphail, Sheila
Kilby, Mark
Habiba, Marwan
Williamson, Catherine
O'Shaughnessy, Kevin
O'Brien, Shaughn
Cameron, Alan
Redman, Christopher W. G.
Farrall, Martin
Caulfield, Mark
DB Label: Database : Science Citation Index Expanded

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

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
DB Label: Database : Science Citation Index Expanded

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

학술저널

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
DB Label: Database : Science Citation Index Expanded

원문보기: OA (Springer) OA (Nature) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

학술저널

issue: CELL; NOV 17 2016, 167 5, p1398-p+, 41p.
Author: Chen, Lu
Ge, Bing
Casale, Francesco Paolo
Vasquez, Louella
Kwan, Tony
Garrido-Martin, Diego
Watt, Stephen
Yan, Ying
Kundu, Kousik
Ecker, Simone
Datta, Avik
Richardson, David
Burden, Frances
Mead, Daniel
Mann, Alice L.
Maria Fernandez, Jose
Rowlston, Sophia
Wilder, Steven P.
Farrow, Samantha
Shao, Xiaojian
Lambourne, John J.
Redensek, Adriana
Albers, Cornelis A.
Amstislavskiy, Vyacheslav
Ashford, Sofie
Berentsen, Kim
Bomba, Lorenzo
Bourque, Guillaume
Bujold, David
Busche, Stephan
Caron, Maxime
Chen, Shu-Huang
Cheung, Warren
Delaneau, Oliver
Dermitzakis, Emmanouil T.
Elding, Heather
Colgiu, Irina
Bagger, Frederik O.
Flicek, Paul
Habibi, Ehsan
Iotchkova, Valentina
Janssen-Megens, Eva
Kim, Bowon
Lehrach, Hans
Lowy, Ernesto
Mandoli, Amit
Matarese, Filomena
Maurano, Matthew T.
Morris, John A.
Pancaldi, Vera
Pourfarzad, Farzin
Rehnstrom, Karola
Rendon, Augusto
Risch, Thomas
Sharifi, Nilofar
Simon, Marie-Michelle
Sultan, Marc
Valencia, Alfonso
Walter, Klaudia
Wang, Shuang-Yin
Frontini, Mattia
Antonarakis, Stylianos E.
Clarke, Laura
Yaspo, Marie-Laure
Beck, Stephan
Guigo, Roderic
Rico, Daniel
Martens, Joost H. A.
Ouwehand, Willem H.
Kuijpers, Taco W.
Paul, Dirk S.
Stunnenberg, Hendrik G.
Stegle, Oliver
Downes, Kate
Pastinen, Tomi
Soranzo, Nicole
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect) Full Text (ScienceDirect O/A) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - FRIC

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

학술저널

issue: NATURE GENETICS; SEP 2016, 48 9, p1060-p+, 9p.
Author: Sifrim, Alejandro
Hitz, Marc-Phillip
Wilsdon, Anna
Breckpot, Jeroen
Al Turki, Saeed H.
Thienpont, Bernard
McRae, Jeremy
Fitzgerald, Tomas W.
Singh, Tarjinder
Swaminathan, Ganesh Jawahar
Prigmore, Elena
Rajan, Diana
Abdul-Khaliq, Hashim
Banka, Siddharth
Bauer, Ulrike M. M.
Bentham, Jamie
Berger, Felix
Bhattacharya, Shoumo
Bu'Lock, Frances
Canham, Natalie
Colgiu, Irina-Gabriela
Cosgrove, Catherine
Cox, Helen
Daehnert, Ingo
Daly, Allan
Danesh, John
Fryer, Alan
Gewillig, Marc
Hobson, Emma
Hoff, Kirstin
Homfray, Tessa
Kahlert, Anne-Karin
Ketley, Ami
Kramer, Hans-Heiner
Lachlan, Katherine
Lampe, Anne Katrin
Louw, Jacoba J.
Manickara, Ashok Kumar
Manase, Dorin
McCarthy, Karen P.
Metcalfe, Kay
Moore, Carmel
Newbury-Ecob, Ruth
Omer, Seham Osman
Ouwehand, Willem H.
Park, Soo-Mi
Parker, Michael J.
Pickardt, Thomas
Pollard, Martin O.
Robert, Leema
Roberts, David J.
Sambrook, Jennifer
Setchfield, Kerry
Stiller, Brigitte
Thornborough, Chris
Toka, Okan
Watkins, Hugh
Williams, Denise
Wright, Michael
Mital, Seema
Daubeney, Piers E. F.
Keavney, Bernard
Goodship, Judith
Abu-Sulaiman, Riyadh Mandi
Klaassen, Sabine
Wright, Caroline F.
Firth, Helen V.
Barrett, Jeffrey C.
Devriendt, Koenraad
FitzPatrick, David R.
Brook, J. David
Hurles, Matthew E.
INTERVAL Study
UK10K Consortium
Deciphering Dev Disorders Study
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Nature) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

학술저널

issue: Sifrim, A., M. Hitz, A. Wilsdon, J. Breckpot, S. H. Al Turki, B. Thienpont, J. McRae, et al. 2018. “Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.” Nature genetics 48 (9): 1060-1065. doi:10.1038/ng.3627. http://dx.doi.org/10.1038/ng.3627.
Author: Sifrim, Alejandro
Hitz, Marc-Phillip
Wilsdon, Anna
Breckpot, Jeroen
Al Turki, Saeed H.
Thienpont, Bernard
McRae, Jeremy
Fitzgerald, Tomas W
Singh, Tarjinder
Swaminathan, Ganesh Jawahar
Prigmore, Elena
Rajan, Diana
Abdul-Khaliq, Hashim
Banka, Siddharth
Bauer, Ulrike M. M.
Bentham, Jamie
Berger, Felix
Bhattacharya, Shoumo
Bu'Lock, Frances
Canham, Natalie
Colgiu, Irina-Gabriela
Cosgrove, Catherine
Cox, Helen
Daehnert, Ingo
Daly, Allan
Danesh, John
Fryer, Alan
Gewillig, Marc
Hobson, Emma
Hoff, Kirstin
Homfray, Tessa
Kahlert, Anne-Karin
Ketley, Ami
Kramer, Hans-Heiner
Lachlan, Katherine
Lampe, Anne Katrin
Louw, Jacoba J.
Manickara, Ashok Kumar
Manase, Dorin
McCarthy, Karen P.
Metcalfe, Kay
Moore, Carmel
Newbury-Ecob, Ruth
Omer, Seham Osman
Ouwehand, Willem H.
Park, Soo-Mi
Parker, Michael J.
Pickardt, Thomas
Pollard, Martin O.
Robert, Leema
Roberts, David J.
Sambrook, Jennifer
Setchfield, Kerry
Stiller, Brigitte
Thornborough, Chris
Toka, Okan
Watkins, Hugh
Williams, Denise
Wright, Michael
Mital, Seema
Daubeney, Piers E. F.
Keavney, Bernard
Goodship, Judith
Abu-Sulaiman, Riyadh Mahdi
Klaassen, Sabine
Wright, Caroline F.
Firth, Helen V.
Barrett, Jeffrey C.
Devriendt, Koenraad
FitzPatrick, David R.
Brook, J. David
Hurles, Matthew
DB Label: Database : Digital Access to Scholarship at Harvard (DASH)

원문보기: Open Access (DASH)

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