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Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype
by
Mohammed, Idris
,
Al‐Khawaga, Sara
,
Bohanna, David
,
Shabani, Abdusamea
,
Khan, Faiyaz
,
Love, Donald R.
,
Nawaz, Zafar
,
Hussain, Khalid
Published in
Molecular genetics & genomic medicine
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Prevalence and architecture of de novo mutations in developmental disorders
by
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
Published in
Nature (London)
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by
Faundes, Víctor
,
Demos, Michelle K.
,
Goldman, Amy
,
Lehman, Anna
,
McKee, Shane
,
Morton, Jenny
,
Rankin, Julia
,
Temple, I. Karen
,
Adam, Shelin
,
van Karnebeek, Clara
,
Aitken, Stuart
,
Alvi, Mohsan
,
Ambridge, Kirsty
,
Jones, Philip
,
Jones, Wendy D.
,
Mason, Laura E.
,
Tivey, Adrian R.
,
Ahmed, Munaza
,
Balasubramanian, Meena
,
Barnicoat, Angela
,
Bitner-Glindzicz, Maria
,
Bourdon, Louise
,
Bradley, Lisa
,
Burn, John
,
Colgiu, Irina
,
Collins, Amanda
,
Collinson, Morag N.
,
Connell, Fiona
,
Crow, Yanick
,
Dabir, Tabib
,
Davidson, Rosemarie
,
de Vries, Dylan
,
Deshpande, Charu
,
Dixit, Abhijit
,
Dobbie, Angus
,
Douzgou, Sofia
,
Duncan, Alexis
,
Eason, Jacqueline
,
Ellard, Sian
,
Elmslie, Frances
,
Evans, Karenza
,
Everest, Sarah
,
Flinter, Frances
,
Foulds, Nicola
,
Ghali, Neeti
,
Gibbons, Richard
,
Gill, Harinder
,
Greene, Philip
,
Gribble, Susan
,
Holder, Muriel
,
Hollingsworth, Georgina
,
Ingram, Stuart
,
Jenkins, Lucy
,
Joss, Shelagh
,
Kerr, Bronwyn
,
Kini, Usha
,
Kraus, Alison
,
Lachlan, Katherine
,
Marks, Karen
,
McConnell, Vivienne
,
McEntagart, Meriel
,
McGowan, Ruth
,
Middleton, Anna
,
Mohammed, Shehla
,
O’Shea, Rosie
,
Ogilvie, Caroline
,
Ong, Kai-Ren
,
Parker, Michael J.
,
Patel, Chirag
,
Paterson, Joan
,
Payne, Stewart
,
Prescott, Katrina
,
Procter, Annie
,
Purnell, Hellen
,
Randall, Josh
,
Rankin, Julia
,
Raymond, Lucy
,
Rice, Debbie
,
Robert, Leema
,
Samant, Shalaka
,
Selby, Ann
,
Sequeira, Cheryl
,
Shears, Debbie
,
Smith, Audrey
,
Smith, Kath
,
Splitt, Miranda
,
Squires, Miranda
,
Tomkins, Susan
,
Treacy, Becky
,
Tysoe, Carolyn
,
Vasudevan, Pradeep
,
Vijayarangakannan, Parthiban
,
Vogt, Julie
,
Wakeling, Emma
,
Whiteford, Margo
,
Wilcox, Sarah
,
Wilkinson, Emily
,
Firth, Helen V.
,
Wright, Caroline F.
,
FitzPatrick, David R.
Published in
American journal of human genetics
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by
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.
Published in
Nature communications
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by
Abou Jamra, Rami
,
Accogli, Andrea
,
Amburgey, Kimberly
,
Basinger, Alice A.
,
Ceulemans, Sophia
,
Charles, Perrine
,
McRae, Jeremy F.
,
Rajan, Diana
,
Ambridge, Kirsty
,
Jones, Philip
,
Jones, Wendy D.
,
Ahmed, Munaza
,
Anjum, Uruj
,
Armstrong, Ruth
,
Barnicoat, Angela
,
Bennett, Chris
,
Blair, Edward
,
Blyth, Moira
,
Bourdon, Louise
,
Brady, Angela
,
Burn, John
,
Canham, Natalie
,
Cilliers, Deirdre
,
Clayton-Smith, Jill
,
Coates, Andrea
,
Cooper, Nicola
,
Dabir, Tabib
,
Davies, Sally
,
Dean, John
,
Devlin, Gemma
,
Donnai, Dian
,
Donnelly, Carina
,
Evans, Karenza
,
Fendick, Tina
,
Goodship, Judith
,
Green, Andrew
,
Harrison, Lucy
,
Holden, Simon
,
Jarvis, Joanna
,
Johnson, Diana
,
Jones, Elizabeth
,
Kumar, V. K. Ajith
,
Lachlan, Katherine
,
Langman, Caroline
,
Maye, Una
,
McMullan, Dominic J.
,
McWilliam, Catherine
,
Metcalfe, Kay
,
Norman, Andrew
,
Ogilvie, Caroline
,
Park, Soo-Mi
,
Phipps, Julie
,
Prescott, Katrina
,
Procter, Annie
,
Purnell, Hellen
,
Ross, Alison
,
Sampson, Julian
,
Shannon, Nora
,
Skitt, Zara
,
Stewart, Fiona
,
Stewart, Helen
,
Swaminathan, Ganesh Jawahar
,
Taylor, Cat
,
Tein, Mark
,
Treacy, Becky
,
Vandersteen, Anthony
,
Wallwark, Sarah
,
Waters, Jonathon
,
Weber, Astrid
,
Whiteford, Margo
,
Widaa, Sara
,
Wilcox, Sarah
,
Wilkinson, Emily
,
Parker, Michael
,
FitzPatrick, David R.
,
Demurger, Florence
,
Eiset, Saga Elise
,
Ferrarini, Alessandra
,
Haack, Tobias B.
,
Hashim, Mona
,
Jonasson, Amy R.
,
Kok, Fernando
,
Marcelis, Carlo L.M.
,
McWalter, Kirsty
,
Mercimek-Andrews, Saadet
,
Person, Richard
,
Ramelli, Gian Paolo
,
Rauch, Anita
,
Sanchez-Valle, Amarilis
,
Sattar, Shifteh
,
Saunders, Carol
,
Steindl, Katharina
,
Syrbe, Steffen
,
Taylor, Jenny C.
,
Trauner, Doris A.
,
Vogel, Ida
,
Widjaja, Elysa
,
Zak, Jaroslav
,
Banka, Siddharth
,
Rodan, Lance H.
Published in
American journal of human genetics
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by
Reich, Adi
,
Cross, J. Helen
,
Scheffer, Ingrid E.
,
Krishnappa, Netravathi
,
Awada, Jana
,
Baralle, Diana
,
Bernhard, Birgitta
,
Clasper, Susan
,
Clayton-Smith, Jill
,
Cresswell, Lara
,
Donaldson, Alan
,
Ellis, Ian
,
Gaunt, Lorraine
,
He, Liu
,
Hewitt, Sarah
,
Hurst, Jane
,
Kirk, Claire
,
Kivuva, Emma
,
Kumar, Dhavendra
,
Mansour, Sahar
,
McCann, Emma
,
McKee, Shane
,
Mugalaasi, Hood
,
Murphy, Helen
,
Newbury-Ecob, Ruth
,
Pilz, Daniela T.
,
Pollard, Martin
,
Pridham, Abigail
,
Saggar, Anand
,
Scott, Richard
,
Shearing, Emma
,
Smithson, Sarah
,
Sneddon, Linda
,
Suri, Mohnish
,
Tatton-Brown, Kate
,
Thomson, Jenny
,
Torokwa, Audrey
,
Varghese, Vinod
,
Yau, Michael
,
Artigas, Maria Soler
,
Boustred, Chris
,
Evans, David
,
Flicek, Paul
,
Hart, Deborah
,
Langford, Cordelia
,
Lawson, Daniel
,
Li, Rui
,
O'Donnovan, Michael
,
Parker, Victoria
,
Parr, Jeremy R.
,
Paunio, Tiina
,
Rehnström, Karola
,
Sun, Jianping
,
Suvisaari, Jaana
,
Tachmazidou, Ionna
,
Williamson, Kathleen A.
,
Wong, Kim
,
Alachkar, Hana
,
Ambegaonkar, Gautum
,
Attwood, Antony
,
Austin, Steve
,
Bennett, David
,
Bibi, Shahnaz
,
Bleda, Marta
,
Boggard, Harm
,
Bradley, John R.
,
Browning, Michael
,
Clement, Emma
,
Doffinger, Rainer
,
Drewe, Elizabeth
,
Frary, Amy
,
Ghataorhe, Pavandeep K.
,
Greenhalgh, Alan
,
Hackett, Scott
,
Hadinnapola, Charaka
,
Heemskerk, Johan W.M.
,
Humbert, Marc
,
James, Roger
,
Krishnakumar, Deepa
,
Lawrie, Allan
,
Lentaigne, Claire
,
Maimaris, Jesmeen
,
Maw, Anna
,
Megy, Karyn
,
Moledina, Shahin
,
Morrell, Nicholas
,
Nejentsev, Sergey
,
Polwarth, Gary
,
Quinti, Isabella
,
Raymond, F. Lucy
,
Samarghitean, Crina
,
Sanchis-Juan, Alba
,
Southgate, Laura
,
Stauss, Hans
,
Thrasher, Adrian
,
Trembath, Richard
,
Turro, Ernest
,
Williamson, Catherine
,
Yeatman, Nigel
,
Millichap, John J.
Published in
American journal of human genetics
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by
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.
Published in
Nature communications
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Water meters: an incentive to conserve and a signal to the market
by
Bohanna, David
Published in
Economic affairs (Harlow)
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