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Nature reviews. Disease primers, 2017-01, Vol.3 (1), p.16094-16094, Article 16094
2017
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Nature genetics, 2011-03, Vol.43 (3), p.197-203
- Beales, Philip L
- Rooryck, Caroline
- Diaz-Font, Anna
- Osborn, Daniel P S
- Chabchoub, Elyes
- Hernandez-Hernandez, Victor
- Shamseldin, Hanan
- Kenny, Joanna
- Waters, Aoife
- Jenkins, Dagan
- Kaissi, Ali Al
- Leal, Gabriela F
- Dallapiccola, Bruno
- Carnevale, Franco
- Bitner-Glindzicz, Maria
- Lees, Melissa
- Hennekam, Raoul
- Stanier, Philip
- Burns, Alan J
- Peeters, Hilde
- Alkuraya, Fowzan S
2011
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Scientific reports, 2020-08, Vol.10 (1), p.13763-13763, Article 13763
- Bryant, Dale
- Seda, Marian
- Peskett, Emma
- Maurer, Constance
- Pomeranz, Gideon
- Ghosh, Marcus
- Hawkins, Thomas A
- Cleak, James
- Datta, Sanchari
- Hariri, Hanaa
- Eckert, Kaitlyn M
- Jafree, Daniyal J
- Walsh, Claire
- Demetriou, Charalambos
- Ishida, Miho
- Alemán-Charlet, Cristina
- Vestito, Letizia
- Seselgyte, Rimante
- McDonald, Jeffrey G
- Bitner-Glindzicz, Maria
- Hemberger, Myriam
- Rihel, Jason
- Teboul, Lydia
- Henne, W Mike
- Jenkins, Dagan
- Moore, Gudrun E
- Stanier, Philip
2020
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Nature (London), 2017-02, Vol.542 (7642), p.433-438
- McRae, Jeremy F
- Clayton, Stephen
- Mason, Laura E
- Tivey, Adrian R
- Ahmed, Munaza
- Awada, Jana
- Balasubramanian, Meena
- Banka, Siddharth
- Bennett, Chris
- Bernhard, Birgitta
- Bevan, A. Paul
- Blair, Edward
- Blyth, Moira
- Burn, John
- Castle, Bruce
- Clasper, Susan
- Collins, Amanda
- Collinson, Morag N
- Dabir, Tabib
- Davidson, Rosemarie
- Davies, Sally
- Dean, John
- Donnai, Dian
- Ellard, Sian
- Ellis, Ian
- Everest, Sarah
- Foulds, Nicola
- Fryer, Alan
- Gaunt, Lorraine
- Goudie, David
- Gray, Emma
- Greene, Philip
- Gribble, Susan
- Henderson, Alex
- Hildyard, Lucy
- Holden, Simon
- Holder, Muriel
- Ingram, Stuart
- Jackson, Andrew
- Kaemba, Beckie
- Kazembe, Sandra
- Kinning, Esther
- Kraus, Alison
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Lam, Wayne
- Lim, Derek
- Longman, Cheryl
- Lynch, Sally A
- Maher, Eddy
- Maye, Una
- McKay, Kirsten
- McWilliam, Catherine
- Metcalfe, Kay
- Morgan, Sian
- Murday, Victoria
- Murphy, Helen
- Nemeth, Andrea
- Nevitt, Louise
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Paterson, Joan
- Payne, Stewart
- Perrett, Daniel
- Pratt, Norman
- Quarrell, Oliver
- Randall, Josh
- Rankin, Julia
- Raymond, Lucy
- Robert, Leema
- Roberts, Paul
- Saggar, Anand
- Samant, Shalaka
- Sampson, Julian
- Sandford, Richard
- Selby, Ann
- Sequeira, Cheryl
- Shearing, Emma
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Suri, Mohnish
- Sutton, Vivienne
- Tatton-Brown, Kate
- Temple, I. Karen
- Turner, Claire
- Varghese, Vinod
- Vasudevan, Pradeep
- Vogt, Julie
- Wakeling, Emma
- Wilcox, Sarah
- Williams, Denise
- Williams, Nicola
- Wilson, Louise
- Wright, Michael
- Yates, Laura
- Yau, Michael
- Wright, Caroline F
- FitzPatrick, David R
- Barrett, Jeffrey C
2017
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Nature genetics, 1997-02, Vol.15 (2), p.157-164
- Cruaud, Corinne
- Leibovici, Michel
- Compain, Sylvie
- Lacombe, Didier
- Bitner-Glindzicz, Maria
- Vigneron, Jacqueline
- Boven, Katia
- Petit, Christine
- Charachon, Robert
- Francis, Mary
- Weil, Dominique
- Regemorter, Nicole Van
- Samson, Delphine
- Weissenbach, Jean
- Bedbeder, Philippe
- Heilig, Roland
- Sahly, Iman
- Abdelhak, Sonia
- Kalatzis, Vasiliki
- Vincent, Christophe
1997
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Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619
- Snijders Blok, Lot
- 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, André
- 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
2018
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Scientific reports, 2018-01, Vol.8 (1), p.1300-17, Article 1300
2018
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Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
- Snijders Blok, Lot
- 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, André
- 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
2019
Link zum Volltext
Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883
- 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, André
- 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
2019
Link zum Volltext
Scientific reports, 2018-09, Vol.8 (1), p.13376-4, Article 13376
2018
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Nature (London), 2020-07, Vol.583 (7814), p.90-95
- Thaventhiran, James E D
- Lango Allen, Hana
- Burren, Oliver S
- Rae, William
- Greene, Daniel
- Staples, Emily
- Zhang, Zinan
- Farmery, James H R
- Simeoni, Ilenia
- Rivers, Elizabeth
- Maimaris, Jesmeen
- Penkett, Christopher J
- Stephens, Jonathan
- Deevi, Sri V V
- Sanchis-Juan, Alba
- Gleadall, Nicholas S
- Thomas, Moira J
- Sargur, Ravishankar B
- Gordins, Pavels
- Baxendale, Helen E
- Brown, Matthew
- Tuijnenburg, Paul
- Worth, Austen
- Hanson, Steven
- Linger, Rachel J
- Buckland, Matthew S
- Rayner-Matthews, Paula J
- Gilmour, Kimberly C
- Samarghitean, Crina
- Seneviratne, Suranjith L
- Sansom, David M
- Lynch, Andy G
- Megy, Karyn
- Ellinghaus, Eva
- Ellinghaus, David
- Jorgensen, Silje F
- Karlsen, Tom H
- Stirrups, Kathleen E
- Cutler, Antony J
- Kumararatne, Dinakantha S
- Chandra, Anita
- Edgar, J David M
- Herwadkar, Archana
- Cooper, Nichola
- Grigoriadou, Sofia
- Huissoon, Aarnoud P
- Goddard, Sarah
- Jolles, Stephen
- Schuetz, Catharina
- Boschann, Felix
- Lyons, Paul A
- Hurles, Matthew E
- Savic, Sinisa
- Burns, Siobhan O
- Kuijpers, Taco W
- Turro, Ernest
- Ouwehand, Willem H
- Thrasher, Adrian J
- Smith, Kenneth G C
2020
Link zum Volltext
Nature genetics, 2000-09, Vol.26 (1), p.56-60
- Bitner-Glindzicz, Maria
- Glaser, Benjamin
- Lindley, Keith J
- Rutland, Paul
- Blaydon, Diana
- Smith, Virpi V
- Milla, Peter J
- Hussain, Khalid
- Furth-Lavi, Judith
- Cosgrove, Karen E
- Shepherd, Ruth M
- Barnes, Philippa D
- O'Brien, Rachel E
- Farndon, Peter A
- Sowden, Jane
- Liu, Xue-Zhong
- Scanlan, Matthew J
- Malcolm, Sue
- Dunne, Mark J
- Aynsley-Green, Albert
2000
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European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327
2015
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European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1-4
2016
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European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.135-138
2016
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European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329
2013
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Nature (London), 2020-08, Vol.584 (7819), p.E2-E2
- Thaventhiran, James E D
- Lango Allen, Hana
- Burren, Oliver S
- Rae, William
- Greene, Daniel
- Staples, Emily
- Zhang, Zinan
- Farmery, James H R
- Simeoni, Ilenia
- Rivers, Elizabeth
- Maimaris, Jesmeen
- Penkett, Christopher J
- Stephens, Jonathan
- Deevi, Sri V V
- Sanchis-Juan, Alba
- Gleadall, Nicholas S
- Thomas, Moira J
- Sargur, Ravishankar B
- Gordins, Pavels
- Baxendale, Helen E
- Brown, Matthew
- Tuijnenburg, Paul
- Worth, Austen
- Hanson, Steven
- Linger, Rachel J
- Buckland, Matthew S
- Rayner-Matthews, Paula J
- Gilmour, Kimberly C
- Samarghitean, Crina
- Seneviratne, Suranjith L
- Sansom, David M
- Lynch, Andy G
- Megy, Karyn
- Ellinghaus, Eva
- Ellinghaus, David
- Jorgensen, Silje F
- Karlsen, Tom H
- Stirrups, Kathleen E
- Cutler, Antony J
- Kumararatne, Dinakantha S
- Chandra, Anita
- Edgar, J David M
- Herwadkar, Archana
- Cooper, Nichola
- Grigoriadou, Sofia
- Huissoon, Aarnoud P
- Goddard, Sarah
- Jolles, Stephen
- Schuetz, Catharina
- Boschann, Felix
- Lyons, Paul A
- Hurles, Matthew E
- Savic, Sinisa
- Burns, Siobhan O
- Kuijpers, Taco W
- Turro, Ernest
- Ouwehand, Willem H
- Thrasher, Adrian J
- Smith, Kenneth G C
2020
Link zum Volltext
Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri
- Aitman, Timothy
- Bennett, David
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark
- Chinnery, Patrick
- Dixon, Peter
- Gale, Daniel
- James, Roger
- Koziell, Ania
- Laffan, Michael
- Levine, Adam
- Maher, Eamonn
- Markus, Hugh
- Morales, Joannella
- Morrell, Nicholas
- Mumford, Andrew
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi
- Saleem, Moin
- Smith, Kenneth
- Stark, Hannah
- Tan, Rhea
- Themistocleous, Andreas
- Thrasher, Adrian
- Watkins, Hugh
- Webster, Andrew
- Wilkins, Martin
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David
- Abbs, Stephen
- Abulhoul, Lara
- Adlard, Julian
- Ahmed, Munaza
- Alachkar, Hana
- Allsup, David
- Almeida-King, Jeff
- Ancliff, Philip
- Antrobus, Richard
- Armstrong, Ruth
- Arno, Gavin
- Ashford, Sofie
- Attwood, Anthony
- Aurora, Paul
- Babbs, Christian
- Bacchelli, Chiara
- Bakchoul, Tamam
- Banka, Siddharth
- Bariana, Tadbir
- Barwell, Julian
- Batista, Joana
- Baxendale, Helen
- Beales, Phil
- Bierzynska, Agnieszka
- Biss, Tina
- Bitner-Glindzicz, Maria
- Black, Graeme
- Bleda, Marta
- Blesneac, Iulia
- Bockenhauer, Detlef
- Bogaard, Harm
- Bourne, Christian
- Boyce, Sara
- Bradley, John
- Bragin, Eugene
- Breen, Gerome
- Brennan, Paul
- Brewer, Carole
- Brown, Matthew
- Browning, Andrew
- Browning, Michael
- Buchan, Rachel
- Buckland, Matthew
- Bueser, Teofila
- Diz, Carmen Bugarin
- Burn, John
- Burns, Siobhan
2020
Link zum Volltext
Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri
- Aitman, Timothy
- Bennett, David
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark
- Chinnery, Patrick
- Dixon, Peter
- Gale, Daniel
- James, Roger
- Koziell, Ania
- Laffan, Michael
- Levine, Adam
- Maher, Eamonn
- Markus, Hugh
- Morales, Joannella
- Morrell, Nicholas
- Mumford, Andrew
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi
- Saleem, Moin
- Smith, Kenneth
- Stark, Hannah
- Tan, Rhea
- Themistocleous, Andreas
- Thrasher, Adrian
- Watkins, Hugh
- Webster, Andrew
- Wilkins, Martin
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David
- Abbs, Stephen
- Abulhoul, Lara
- Adlard, Julian
- Ahmed, Munaza
- Alachkar, Hana
- Allsup, David
- Almeida-King, Jeff
- Ancliff, Philip
- Antrobus, Richard
- Armstrong, Ruth
- Arno, Gavin
- Ashford, Sofie
- Attwood, Anthony
- Aurora, Paul
- Babbs, Christian
- Bacchelli, Chiara
- Bakchoul, Tamam
- Banka, Siddharth
- Bariana, Tadbir
- Barwell, Julian
- Batista, Joana
- Baxendale, Helen
- Beales, Phil
- Bierzynska, Agnieszka
- Biss, Tina
- Bitner-Glindzicz, Maria
- Black, Graeme
- Bleda, Marta
- Blesneac, Iulia
- Bockenhauer, Detlef
- Bogaard, Harm
- Bourne, Christian
- Boyce, Sara
- Bradley, John
- Bragin, Eugene
- Breen, Gerome
- Brennan, Paul
- Brewer, Carole
- Brown, Matthew
- Browning, Andrew
- Browning, Michael
- Buchan, Rachel
- Buckland, Matthew
- Bueser, Teofila
- Diz, Carmen Bugarin
- Burn, John
- Burns, Siobhan
2020
Link zum Volltext
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