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American journal of human genetics, 2014-08, Vol.95 (2), p.173-182
- Campbell, Ian M.
- Yuan, Bo
- Robberecht, Caroline
- Pfundt, Rolph
- Szafranski, Przemyslaw
- McEntagart, Meriel E.
- Nagamani, Sandesh C.S.
- Erez, Ayelet
- Bartnik, Magdalena
- Wiśniowiecka-Kowalnik, Barbara
- Plunkett, Katie S.
- Pursley, Amber N.
- Kang, Sung-Hae L.
- Bi, Weimin
- Lalani, Seema R.
- Bacino, Carlos A.
- Vast, Mala
- Marks, Karen
- Patton, Michael
- Olofsson, Peter
- Patel, Ankita
- Veltman, Joris A.
- Cheung, Sau Wai
- Shaw, Chad A.
- Vissers, Lisenka E.L.M.
- Vermeesch, Joris R.
- Lupski, James R.
- Stankiewicz, Paweł
2014
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American journal of human genetics, 2012-12, Vol.91 (6), p.1103-1107
2012
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Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3618-3624
- HARLALKA, Gaurav V
- LEHMAN, Anna
- PROUKAKIS, Christos
- ROYLE, Louise
- KOZAK, Radoslaw P
- BASTAKI, Laila
- PATTON, Michael
- WAGNER, Karin
- COBLENTZ, Roselyn
- PRICE, Joy
- MEZEI, Michelle
- SCHLADE-BARTUSIAK, Kamilla
- CHIOZA, Barry
- PLATT, Frances M
- HURLES, Matthew E
- CROSBY, Andrew H
- BAPLE, Emma L
- MAROOFIAN, Reza
- CROSS, Harold
- SREEKANTAN-NAIR, Ajith
- PRIESTMAN, David A
- AL-TURKI, Saeed
- MCENTAGART, Meriel E
2013
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eLife, 2017-07, Vol.6
- Celen, Cemre
- Chuang, Jen-Chieh
- Luo, Xin
- Nijem, Nadine
- Walker, Angela K
- Chen, Fei
- Zhang, Shuyuan
- Chung, Andrew S
- Nguyen, Liem H
- Nassour, Ibrahim
- Budhipramono, Albert
- Sun, Xuxu
- Bok, Levinus A
- McEntagart, Meriel
- Gevers, Evelien F
- Birnbaum, Shari G
- Eisch, Amelia J
- Powell, Craig M
- Ge, Woo-Ping
- Santen, Gijs We
- Chahrour, Maria
- Zhu, Hao
2017
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Nature genetics, 2010-02, Vol.42 (2), p.160-164
- Auer-Grumbach, Michaela
- Olschewski, Andrea
- Papi, Lea
- Kremer, Hannie
- McEntagart, Meriel E
- Uhrig, Sabine
- Fischer, Carina
- Fröhlich, Eleonore
- Bálint, Zoltán
- Tang, Bi
- Strohmaier, Heimo
- Lochmüller, Hanns
- Schlotter-Weigel, Beate
- Senderek, Jan
- Krebs, Angelika
- Dick, Katherine J
- Petty, Richard
- Longman, Cheryl
- Anderson, Neil E
- Padberg, George W
- Schelhaas, Helenius J
- van Ravenswaaij-Arts, Conny M A
- Pieber, Thomas R
- Crosby, Andrew H
- Guelly, Christian
2010
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American journal of human genetics, 2012-08, Vol.91 (2), p.358-364
2012
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Genome research, 2019-02, Vol.29 (2), p.159
- Lord, Jenny
- Gallone, Giuseppe
- Short, Patrick J
- McRae, Jeremy F
- Ironfield, Holly
- Wynn, Elizabeth H
- Gerety, Sebastian S
- He, Liu
- Kerr, Bronwyn
- Johnson, Diana S
- McCann, Emma
- Kinning, Esther
- Flinter, Frances
- Temple, I Karen
- Clayton-Smith, Jill
- McEntagart, Meriel
- Lynch, Sally Ann
- Joss, Shelagh
- Douzgou, Sofia
- Dabir, Tabib
- Clowes, Virginia
- McConnell, Vivienne P M
- Lam, Wayne
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Barrett, Jeffrey C
- Hurles, Matthew E
2019
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The Journal of clinical investigation, 2020-03, Vol.130 (3), p.1506-1512
- Sullivan, Jeremy M
- Motley, William W
- Johnson, Janel O
- Aisenberg, William H
- Marshall, Katherine L
- Barwick, Katy Es
- Kong, Lingling
- Huh, Jennifer S
- Saavedra-Rivera, Pamela C
- McEntagart, Meriel M
- Marion, Marie-Helene
- Hicklin, Lucy A
- Modarres, Hamid
- Baple, Emma L
- Farah, Mohamed H
- Zuberi, Aamir R
- Lutz, Cathleen M
- Gaudet, Rachelle
- Traynor, Bryan J
- Crosby, Andrew H
- Sumner, Charlotte J
2020
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Genetics in medicine, 2021-02, Vol.23 (2), p.363-373
- Stamberger, Hannah
- Hammer, Trine B
- Gardella, Elena
- Vlaskamp, Danique R M
- Bertelsen, Birgitte
- Mandelstam, Simone
- de Lange, Iris
- Zhang, Jing
- Myers, Candace T
- Fenger, Christina
- Afawi, Zaid
- Almanza Fuerte, Edith P
- Andrade, Danielle M
- Balcik, Yunus
- Ben Zeev, Bruria
- Bennett, Mark F
- Berkovic, Samuel F
- Isidor, Bertrand
- Bouman, Arjan
- Brilstra, Eva
- Busk, Øyvind L
- Cairns, Anita
- Caumes, Roseline
- Chatron, Nicolas
- Dale, Russell C
- de Geus, Christa
- Edery, Patrick
- Gill, Deepak
- Granild-Jensen, Jacob Bie
- Gunderson, Lauren
- Gunning, Boudewijn
- Heimer, Gali
- Helle, Johan R
- Hildebrand, Michael S
- Hollingsworth, Georgie
- Kharytonov, Volodymyr
- Klee, Eric W
- Koeleman, Bobby P C
- Koolen, David A
- Korff, Christian
- Küry, Sébastien
- Lesca, Gaetan
- Lev, Dorit
- Leventer, Richard J
- Mackay, Mark T
- Macke, Erica L
- McEntagart, Meriel
- Mohammad, Shekeeb S
- Monin, Pauline
- Montomoli, Martino
- Morava, Eva
- Moutton, Sebastien
- Muir, Alison M
- Parrini, Elena
- Procopis, Peter
- Ranza, Emmanuelle
- Reed, Laura
- Reif, Philipp S
- Rosenow, Felix
- Rossi, Massimiliano
- Sadleir, Lynette G
- Sadoway, Tara
- Schelhaas, Helenius J
- Schneider, Amy L
- Shah, Krati
- Shalev, Ruth
- Sisodiya, Sanjay M
- Smol, Thomas
- Stumpel, Connie T R M
- Stuurman, Kyra
- Symonds, Joseph D
- Mau-Them, Frederic Tran
- Verbeek, Nienke
- Verhoeven, Judith S
- Wallace, Geoffrey
- Yosovich, Keren
- Zarate, Yuri A
- Zerem, Ayelet
- Zuberi, Sameer M
- Guerrini, Renzo
- Mefford, Heather C
- Patel, Chirag
- Zhang, Yue-Hua
- Møller, Rikke S
- Scheffer, Ingrid E
2021
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Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725
- Dworschak, Gabriel C
- Punetha, Jaya
- Kalanithy, Jeshurun C
- Mingardo, Enrico
- Erdem, Haktan B
- Akdemir, Zeynep C
- Karaca, Ender
- Mitani, Tadahiro
- Marafi, Dana
- Fatih, Jawid M
- Jhangiani, Shalini N
- Hunter, Jill V
- Dakal, Tikam Chand
- Dhabhai, Bhanupriya
- Dabbagh, Omar
- Alsaif, Hessa S
- Alkuraya, Fowzan S
- Maroofian, Reza
- Houlden, Henry
- Efthymiou, Stephanie
- Dominik, Natalia
- Salpietro, Vincenzo
- Sultan, Tipu
- Haider, Shahzad
- Bibi, Farah
- Thiele, Holger
- Hoefele, Julia
- Riedhammer, Korbinian M
- Wagner, Matias
- Guella, Ilaria
- Demos, Michelle
- Keren, Boris
- Buratti, Julien
- Charles, Perrine
- Nava, Caroline
- Héron, Delphine
- Heide, Solveig
- Valkanas, Elise
- Waddell, Leigh B
- Jones, Kristi J
- Oates, Emily C
- Cooper, Sandra T
- MacArthur, Daniel
- Syrbe, Steffen
- Ziegler, Andreas
- Platzer, Konrad
- Okur, Volkan
- Chung, Wendy K
- O'Shea, Sarah A
- Alcalay, Roy
- Fahn, Stanley
- Mark, Paul R
- Guerrini, Renzo
- Vetro, Annalisa
- Hudson, Beth
- Schnur, Rhonda E
- Hoganson, George E
- Burton, Jennifer E
- McEntagart, Meriel
- Lindenberg, Tobias
- Yilmaz, Öznur
- Odermatt, Benjamin
- Pehlivan, Davut
- Posey, Jennifer E
- Lupski, James R
- Reutter, Heiko
2021
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Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210
- Faundes, Víctor
- Goh, Stephanie
- Akilapa, Rhoda
- Bezuidenhout, Heidre
- Bjornsson, Hans T.
- Bradley, Lisa
- Brady, Angela F.
- Brischoux-Boucher, Elise
- Brunner, Han
- Bulk, Saskia
- Canham, Natalie
- Cody, Declan
- Dentici, Maria Lisa
- Digilio, Maria Cristina
- Elmslie, Frances
- Fry, Andrew E.
- Gill, Harinder
- Hurst, Jane
- Johnson, Diana
- Julia, Sophie
- Lachlan, Katherine
- Lebel, Robert Roger
- Byler, Melissa
- Gershon, Eric
- Lemire, Edmond
- Gnazzo, Maria
- Lepri, Francesca Romana
- Marchese, Antonia
- McEntagart, Meriel
- McGaughran, Julie
- Mizuno, Seiji
- Okamoto, Nobuhiko
- Rieubland, Claudine
- Rodgers, Jonathan
- Sasaki, Erina
- Scalais, Emmanuel
- Scurr, Ingrid
- Suri, Mohnish
- van der Burgt, Ineke
- Matsumoto, Naomichi
- Miyake, Noriko
- Benoit, Valérie
- Lederer, Damien
- Banka, Siddharth
2021
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Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069
- Ragge, Nicola
- Isidor, Bertrand
- Bitoun, Pierre
- Odent, Sylvie
- Giurgea, Irina
- Cogné, Benjamin
- Deb, Wallid
- Vincent, Marie
- Le Gall, Jessica
- Morton, Jenny
- Lim, Derek
- Le Meur, Guylène
- Zazo Seco, Celia
- Zafeiropoulou, Dimitra
- Bax, Dorine
- Zwijnenburg, Petra
- Arteche, Anara
- Swafiri, Saoud Tahsin
- Cleaver, Ruth
- McEntagart, Meriel
- Kini, Usha
- Newman, William
- Ayuso, Carmen
- Corton, Marta
- Herenger, Yvan
- Jeanne, Médéric
- Calvas, Patrick
- Chassaing, Nicolas
2019
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American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2835-2846
- Low, Karen
- Ashraf, Tazeen
- Canham, Natalie
- Clayton-Smith, Jill
- Deshpande, Charu
- Donaldson, Alan
- Fisher, Richard
- Flinter, Frances
- Foulds, Nicola
- Fryer, Alan
- Gibson, Kate
- Hayes, Ian
- Hills, Alison
- Holder, Susan
- Irving, Melita
- Joss, Shelagh
- Kivuva, Emma
- Lachlan, Kathryn
- Magee, Alex
- McConnell, Vivienne
- McEntagart, Meriel
- Metcalfe, Kay
- Montgomery, Tara
- Newbury-Ecob, Ruth
- Stewart, Fiona
- Turnpenny, Peter
- Vogt, Julie
- Fitzpatrick, David
- Williams, Maggie
- Smithson, Sarah
2016
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Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368
- Hyder, Zerin
- Calpena, Eduardo
- Pei, Yang
- Tooze, Rebecca S
- Brittain, Helen
- Twigg, Stephen R F
- Cilliers, Deirdre
- Morton, Jenny E V
- McCann, Emma
- Weber, Astrid
- Wilson, Louise C
- Douglas, Andrew G L
- McGowan, Ruth
- Need, Anna
- Bond, Andrew
- Tavares, Ana Lisa Taylor
- Thomas, Ellen R A
- Hill, Susan L
- Deans, Zandra C
- Boardman-Pretty, Freya
- Caulfield, Mark
- Scott, Richard H
- Wilkie, Andrew O M
2021
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Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809
- Zimoń, Magdalena
- Baets, Jonathan
- Auer-Grumbach, Michaela
- Berciano, José
- Garcia, Antonio
- Lopez-Laso, Eduardo
- Merlini, Luciano
- Hilton-Jones, David
- McEntagart, Meriel
- Crosby, Andrew H.
- Barisic, Nina
- Boltshauser, Eugen
- Shaw, Christopher E.
- Landouré, Guida
- Ludlow, Christy L.
- Gaudet, Rachelle
- Houlden, Henry
- Reilly, Mary M.
- Fischbeck, Kenneth H.
- Sumner, Charlotte J.
- Timmerman, Vincent
- Jordanova, Albena
- Jonghe, Peter De
2010
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Genetics in medicine, 2021-02, Vol.23 (2), p.384-395
- Brunet, Theresa
- McWalter, Kirsty
- Mayerhanser, Katharina
- Anbouba, Grace M
- Armstrong-Javors, Amy
- Bader, Ingrid
- Baugh, Evan
- Begtrup, Amber
- Bupp, Caleb P
- Callewaert, Bert L
- Cereda, Anna
- Cousin, Margot A
- Del Rey Jimenez, Juan C
- Demmer, Laurie
- Dsouza, Nikita R
- Fleischer, Nicole
- Gavrilova, Ralitza H
- Ghate, Sumedha
- Graf, Elisabeth
- Green, Andrew
- Green, Sarah R
- Iascone, Maria
- Kdissa, Ameni
- Klee, Dirk
- Klee, Eric W
- Lancaster, Emily
- Lindstrom, Kristin
- Mayr, Johannes A
- McEntagart, Meriel
- Meeks, Naomi J L
- Mittag, Dana
- Moore, Harrison
- Olsen, Anne K
- Ortiz, Damara
- Parsons, Gretchen
- Pena, Loren D M
- Person, Richard E
- Punj, Sumit
- Ramos-Rivera, Gonzalo Alonso
- Sacoto, Maria J Guillen
- Bradley Schaefer, G
- Schnur, Rhonda E
- Scott, Tiana M
- Scott, Daryl A
- Serbinski, Carolyn R
- Shashi, Vandana
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- Stadheim, Barbro Fossøy
- Sullivan, Jennifer A
- Švantnerová, Jana
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- Wargowski, David S
- Wentzensen, Ingrid M
- Wieczorek, Dagmar
- Winkelmann, Juliane
- Yap, Patrick
- Zech, Michael
- Zimmermann, Michael T
- Meitinger, Thomas
- Distelmaier, Felix
- Wagner, Matias
2021
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Human mutation, 2016-11, Vol.37 (11), p.1157-1161
- Harlalka, Gaurav V.
- McEntagart, Meriel E.
- Gupta, Neerja
- Skrzypiec, Anna E.
- Mucha, Mariusz W.
- Chioza, Barry A.
- Simpson, Michael A.
- Sreekantan-Nair, Ajith
- Pereira, Anthony
- Günther, Sven
- Jahic, Amir
- Modarres, Hamid
- Moore-Barton, Heather
- Trembath, Richard C.
- Kabra, Madhulika
- Baple, Emma L.
- Thakur, Seema
- Patton, Michael A.
- Beetz, Christian
- Pawlak, Robert
- Crosby, Andrew H.
2016
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BMC medical genetics, 2016-11, Vol.17 (1), p.82-82, Article 82
2016
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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
2010
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Journal of clinical neuroscience, 2012-07, Vol.19 (7), p.927-933
2012
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HGG advances, 2021-01, Vol.2 (1), p.100015-100015, Article 100015
2021
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Neurology. Genetics, 2018-04, Vol.4 (2), p.e222-e222
2018
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The journal of clinical endocrinology and metabolism, 2007-06, Vol.92 (6), p.2378-2381
2007
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Nature (London), 2020-10, Vol.586 (7831), p.757-762
- Kaplanis, Joanna
- Samocha, Kaitlin E
- Wiel, Laurens
- Zhang, Zhancheng
- Arvai, Kevin J
- Eberhardt, Ruth Y
- Gallone, Giuseppe
- Lelieveld, Stefan H
- Martin, Hilary C
- McRae, Jeremy F
- Short, Patrick J
- Torene, Rebecca I
- de Boer, Elke
- Danecek, Petr
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- Huang, Ni
- Lord, Jenny
- Martincorena, Iñigo
- Pfundt, Rolph
- Reijnders, Margot R F
- Yeung, Alison
- Yntema, Helger G
- Vissers, Lisenka E L M
- Juusola, Jane
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- Brunner, Han G
- Firth, Helen V
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- Barrett, Jeffrey C
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- Gilissen, Christian
- Retterer, Kyle
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
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- Yau, Michael
- Wright, Caroline F
- FitzPatrick, David R
- Barrett, Jeffrey C
2017
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