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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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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679
2017
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Human mutation, 2010-06, Vol.31 (6), p.722-733
2010
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Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.146-146, Article 146
2013
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European journal of medical genetics, 2019-02, Vol.62 (2), p.109-114
2019
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Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164
- Martin, Hilary C
- Jones, Wendy D
- McIntyre, Rebecca
- Sanchez-Andrade, Gabriela
- Sanderson, Mark
- Stephenson, James D
- Jones, Carla P
- Handsaker, Juliet
- Gallone, Giuseppe
- Bruntraeger, Michaela
- McRae, Jeremy F
- Prigmore, Elena
- Short, Patrick
- Niemi, Mari
- Kaplanis, Joanna
- Radford, Elizabeth J
- Akawi, Nadia
- Balasubramanian, Meena
- Dean, John
- Horton, Rachel
- Hulbert, Alice
- Johnson, Diana S
- Johnson, Katie
- Kumar, Dhavendra
- Lynch, Sally Ann
- Mehta, Sarju G
- Morton, Jenny
- Parker, Michael J
- Splitt, Miranda
- Turnpenny, Peter D
- Vasudevan, Pradeep C
- Wright, Michael
- Bassett, Andrew
- Gerety, Sebastian S
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
- Barrett, Jeffrey C
2018
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European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.749-760
2023
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Nature genetics, 2018-10, Vol.50 (10), p.1442-1451
- Basilicata, M Felicia
- Bruel, Ange-Line
- Semplicio, Giuseppe
- Valsecchi, Claudia Isabelle Keller
- Aktaş, Tuğçe
- Duffourd, Yannis
- Rumpf, Tobias
- Morton, Jenny
- Bache, Iben
- Szymanski, Witold G
- Gilissen, Christian
- Vanakker, Olivier
- Õunap, Katrin
- Mittler, Gerhard
- van der Burgt, Ineke
- El Chehadeh, Salima
- Cho, Megan T
- Pfundt, Rolph
- Tan, Tiong Yang
- Kirchhoff, Maria
- Menten, Björn
- Vergult, Sarah
- Lindstrom, Kristin
- Reis, André
- Johnson, Diana S
- Fryer, Alan
- McKay, Victoria
- Fisher, Richard B
- Thauvin-Robinet, Christel
- Francis, David
- Roscioli, Tony
- Pajusalu, Sander
- Radtke, Kelly
- Ganesh, Jaya
- Brunner, Han G
- Wilson, Meredith
- Faivre, Laurence
- Kalscheuer, Vera M
- Thevenon, Julien
- Akhtar, Asifa
2018
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Human mutation, 2018-09, Vol.39 (9), p.1246-1261
- Meester, Josephina A.N.
- Sukalo, Maja
- Schröder, Kim C.
- Schanze, Denny
- Baynam, Gareth
- Borck, Guntram
- Bramswig, Nuria C.
- Duman, Duygu
- Gilbert‐Dussardier, Brigitte
- Holder‐Espinasse, Muriel
- Itin, Peter
- Johnson, Diana S.
- Joss, Shelagh
- Koillinen, Hannele
- McKenzie, Fiona
- Morton, Jenny
- Nelle, Heike
- Reardon, Willie
- Roll, Claudia
- Salih, Mustafa A.
- Savarirayan, Ravi
- Scurr, Ingrid
- Splitt, Miranda
- Thompson, Elizabeth
- Titheradge, Hannah
- Travers, Colm P.
- Maldergem, Lionel
- Whiteford, Margo
- Wieczorek, Dagmar
- Vandeweyer, Geert
- Trembath, Richard
- Laer, Lut
- Loeys, Bart L.
- Zenker, Martin
- Southgate, Laura
- Wuyts, Wim
2018
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American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.867-877
- Richardson, Ruth
- Baralle, Diana
- Bennett, Christopher
- Briggs, Tracy
- Bijlsma, Emilia K.
- Clayton‐Smith, Jill
- Constantinou, Panayiotis
- Foulds, Nicola
- Jarvis, Joanna
- Jewell, Rosalyn
- Johnson, Diana S.
- McEntagart, Meriel
- Parker, Michael J.
- Radley, Jessica A.
- Robertson, Lisa
- Ruivenkamp, Claudia
- Rutten, Julie W.
- Tellez, James
- Turnpenny, Peter D.
- Wilson, Valerie
- Wright, Michael
- Balasubramanian, Meena
2022
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American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.994-1007
2020
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American journal of medical genetics. Part A, 2019-01, Vol.179 (1), p.43-49
2019
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Genetics in medicine, 2018-01, Vol.20 (1), p.42-54
- Giunta, Cecilia
- Baumann, Matthias
- Fauth, Christine
- Lindert, Uschi
- Abdalla, Ebtesam M.
- Brady, Angela F.
- Collins, James
- Dastgir, Jahannaz
- Donkervoort, Sandra
- Ghali, Neeti
- Johnson, Diana S.
- Kariminejad, Ariana
- Koch, Johannes
- Kraenzlin, Marius
- Lahiri, Nayana
- Lozic, Bernarda
- Manzur, Adnan Y.
- Morton, Jenny E.V.
- Pilch, Jacek
- Pollitt, Rebecca C.
- Schreiber, Gudrun
- Shannon, Nora L.
- Sobey, Glenda
- Vandersteen, Anthony
- van Dijk, Fleur S.
- Witsch-Baumgartner, Martina
- Zschocke, Johannes
- Pope, F. Michael
- Bönnemann, Carsten G.
- Rohrbach, Marianne
2018
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Clinical genetics, 2019-02, Vol.95 (2), p.334-335
2019
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American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3138-3142
2010
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European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1684-1688
2015
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Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.261-268
2017
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Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.261-268
2017
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American journal of human genetics, 2017-11, Vol.101 (5), p.768-788
- Küry, Sébastien
- van Woerden, Geeske M.
- Besnard, Thomas
- Proietti Onori, Martina
- Latypova, Xénia
- Towne, Meghan C.
- Cho, Megan T.
- Ploeg, Melissa A.
- Sanders, Stephan
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A.
- Bernstein, Jonathan A.
- Denommé-Pichon, Anne-Sophie
- Lesca, Gaëtan
- Sellars, Elizabeth A.
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L.
- Deardorff, Matthew
- Hoganson, George E.
- Bosanko, Katherine B.
- Johnson, Diana S.
- Dabir, Tabib
- Holla, Øystein Lunde
- Sarkar, Ajoy
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A.
- Grange, Dorothy K.
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Burton, Jennifer
- Bhoj, Elizabeth J.
- Douglas, Jessica
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lincoln, Sharyn
- Kusako, Brandon H.
- Lindenbaum, Pierre
- Charpentier, Eric
- Nowak, Catherine B.
- Cherot, Elouan
- Simonet, Thomas
- Ruivenkamp, Claudia A.L.
- Hahn, Sihoun
- Brownstein, Catherine A.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Parent, Philippe
- Gilbert-Dussardier, Brigitte
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Peart-Vissers, Lisenka E.L.M.
- Boisseau, Pierre
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Tan, Wen-Hann
- Verbeek, Nienke E.
- Granzow, Martin
- Santen, Gijs W.E.
- Shendure, Jay
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Petrovski, Slavé
- Retterer, Kyle
- Eichler, Evan E.
- Rosenfeld, Jill A.
- Agrawal, Pankaj B.
- Bézieau, Stéphane
- Odent, Sylvie
- Mercier, Sandra
2017
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Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668
- Ansari, Morad
- Poke, Gemma
- Ferry, Quentin
- Williamson, Kathleen
- Aldridge, Roland
- Meynert, Alison M
- Bengani, Hemant
- Chan, Cheng Yee
- Kayserili, Hülya
- Avci, Şahin
- Hennekam, Raoul C M
- Lampe, Anne K
- Redeker, Egbert
- Homfray, Tessa
- Ross, Alison
- Falkenberg Smeland, Marie
- Mansour, Sahar
- Parker, Michael J
- Cook, Jacqueline A
- Splitt, Miranda
- Fisher, Richard B
- Fryer, Alan
- Magee, Alex C
- Wilkie, Andrew
- Barnicoat, Angela
- Brady, Angela F
- Cooper, Nicola S
- Mercer, Catherine
- Deshpande, Charu
- Bennett, Christopher P
- Pilz, Daniela T
- Ruddy, Deborah
- Cilliers, Deirdre
- Johnson, Diana S
- Josifova, Dragana
- Rosser, Elisabeth
- Thompson, Elizabeth M
- Wakeling, Emma
- Kinning, Esther
- Stewart, Fiona
- Flinter, Frances
- Girisha, Katta M
- Cox, Helen
- Firth, Helen V
- Kingston, Helen
- Wee, Jamie S
- Hurst, Jane A
- Clayton-Smith, Jill
- Tolmie, John
- Vogt, Julie
- Tatton–Brown, Katrina
- Chandler, Kate
- Prescott, Katrina
- Wilson, Louise
- Behnam, Mahdiyeh
- McEntagart, Meriel
- Davidson, Rosemarie
- Lynch, Sally-Ann
- Sisodiya, Sanjay
- Mehta, Sarju G
- McKee, Shane A
- Mohammed, Shehla
- Holden, Simon
- Park, Soo-Mi
- Holder, Susan E
- Harrison, Victoria
- McConnell, Vivienne
- Lam, Wayne K
- Green, Andrew J
- Donnai, Dian
- Bitner-Glindzicz, Maria
- Donnelly, Deirdre E
- Nellåker, Christoffer
- Taylor, Martin S
- FitzPatrick, David R
2014
Link zum Volltext
Genetics in medicine, 2019-12, Vol.21 (12), p.2723-2733
- Konrad, Enrico D H
- Nardini, Niels
- Caliebe, Almuth
- Nagel, Inga
- Young, Dana
- Horvath, Gabriella
- Santoro, Stephanie L
- Shuss, Christine
- Ziegler, Alban
- Bonneau, Dominique
- Kempers, Marlies
- Pfundt, Rolph
- Legius, Eric
- Bouman, Arjan
- Stuurman, Kyra E
- Õunap, Katrin
- Pajusalu, Sander
- Wojcik, Monica H
- Vasileiou, Georgia
- Le Guyader, Gwenaël
- Schnelle, Hege M
- Berland, Siren
- Zonneveld-Huijssoon, Evelien
- Kersten, Simone
- Gupta, Aditi
- Blackburn, Patrick R
- Ellingson, Marissa S
- Ferber, Matthew J
- Dhamija, Radhika
- Klee, Eric W
- McEntagart, Meriel
- Lichtenbelt, Klaske D
- Kenney, Amy
- Vergano, Samantha A
- Abou Jamra, Rami
- Platzer, Konrad
- Ella Pierpont, Mary
- Khattar, Divya
- Hopkin, Robert J
- Martin, Richard J
- Jongmans, Marjolijn C J
- Chang, Vivian Y
- Martinez-Agosto, Julian A
- Kuismin, Outi
- Kurki, Mitja I
- Pietiläinen, Olli
- Palotie, Aarno
- Maarup, Timothy J
- Johnson, Diana S
- Venborg Pedersen, Katja
- Laulund, Lone W
- Lynch, Sally A
- Blyth, Moira
- Prescott, Katrina
- Canham, Natalie
- Ibitoye, Rita
- Brilstra, Eva H
- Shinawi, Marwan
- Fassi, Emily
- Sticht, Heinrich
- Gregor, Anne
- Van Esch, Hilde
- Zweier, Christiane
2019
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Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
2020
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The New England journal of medicine, 2020-10, Vol.383 (18), p.1746-1756
- Sparks, Teresa N
- Lianoglou, Billie R
- Adami, Rebecca R
- Pluym, Ilina D
- Holliman, Kerry
- Duffy, Jennifer
- Downum, Sarah L
- Patel, Sachi
- Faubel, Amanda
- Boe, Nina M
- Field, Nancy T
- Murphy, Aisling
- Laurent, Louise C
- Jolley, Jennifer
- Uy, Cherry
- Slavotinek, Anne M
- Devine, Patrick
- Hodoglugil, Ugur
- Van Ziffle, Jessica
- Sanders, Stephan J
- MacKenzie, Tippi C
- Norton, Mary E
2020
Link zum Volltext
American journal of human genetics, 2017-11, Vol.101 (5), p.768-788
- Küry, Sébastien
- van Woerden, Geeske M
- Besnard, Thomas
- Onori, Martina Proietti
- Latypova, Xénia
- Towne, Meghan C
- Cho, Megan T
- Prescott, Trine E
- Ploeg, Melissa A
- Sanders, Stephan J.
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A
- Bernstein, Jonathan A.
- Denommé-Pichon, Anne-Sophie
- Lesca, Gaëtan
- Sellars, Elizabeth A
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L
- Deardorff, Matthew A.
- Hoganson, George E
- Bosanko, Katherine B
- Johnson, Diana S.
- Dabir, Tabib
- Lunde Holla, Øystein
- Sarkar, Ajoy
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A
- Grange, Dorothy K
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Burton, Jennifer
- Bhoj, Elizabeth J.
- Douglas, Jessica
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lincoln, Sharyn
- Kusako, Brandon H.
- Lindenbaum, Pierre
- Charpentier, Eric
- Nowak, Catherine B.
- Cherot, Elouan
- Simonet, Thomas
- Ruivenkamp, Claudia A.L.
- Hahn, Sihoun
- Brownstein, Catherine A.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Quinquis, Delphine
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Parent, Philippe
- Gilbert-Dussardier, Brigitte
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Peart-Vissers, Lisenka E.L.M.
- Boisseau, Pierre
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Diseases Network, Undiagnosed
- Tan, Wen-Hann
- Verbeek, Nienke E.
- Granzow, Martin
- Santen, Gijs W.E.
- Shendure, Jay
- Isidor, Bertrand
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Hugo, Gem
- Study, Deciphering Developmental Disorders
- Petrovski, Slavé
- Retterer, Kyle
2017
Link zum Volltext
The Journal of pediatrics, 2021-06, Vol.233, p.112-118.e3
- Strobel, Katie M.
- Kramer, Katelin
- Fernandez, Erika
- Rottkamp, Catherine
- Keller, Roberta
- Moyer, Laurel
- Poulain, Francis
- Kim, Jae H.
- DeUgarte, Daniel A.
- Boe, Nina
- James, Gina
- McLennan, Amelia
- Powne, Amy
- Morris, Laila Rhee
- Sunderji, Sherzana
- Tache, Veronique
- Yeh, Jay
- Duffy, Jennifer
- Gibbs, David
- Hameed, Afshan
- Hatfield, Tamara
- Iacob, Alexandra
- Jolley, Jennifer
- Kabeer, Mustafa
- Kiciman, Nafiz
- Makhoul, Joshua
- Nicolau, Yona
- Post, Rebecca
- Rumney, Pamela
- Yu, Peter
- Doshi, Nita
- Lai, Wyman
- Renella, Pierangelo
- Afshar, Yalda
- Calkins, Kara
- DeUgarte, Daniel
- Deville, Jaime
- Fajardo, Viviana
- Garg, Meena
- Han, Christina
- Janzen, Carla
- Lee, Steven
- Lerman, Steven
- Murphy, Aisling
- Nguyen, Tina
- Sabnis, Animesh
- Satou, Gary
- Sklansky, Mark
- Strobel, Katie
- Sturm, Renea
- Adami, Rebecca
- Anton, Tracy
- Bickler, Stephen
- Hull, Andrew
- Jacobs, Marni
- Johnson, Diana
- Lazar, Sarah
- Laurent, Louise
- Liu, Tzu-Ning
- Magallanes, Celestine
- Melber, Dora
- Ramos, Sandy
- Woelkers, Douglas
- Zhang-Rutledge, Kathy
- Golding, Ian Fraser
- Bennet, Stacie
- Catenacci, Melissa
- Feldstein, Vickie
- Goldstein, Ruth
- Gonzalez, Veronica
- Gosnell, Kristen
- Gras, Joanne
- Hogan, Whitnee
- Irani, Roxanna
- Jha, Priyanka
- Josiah-Davis, Erna
- Lee, Hanmin
- Lucero, Jennifer
- MacKenzie, Tippi
- Moon-Grady, Anita
- Morgan, Tara
- Murtha, Amy
- Norton, Mary
- Oman, Natalie
- Padilla, Benjamin
- Patel, Sachi
- Phelps, Andrew
- Poder, Liina
- Post, Annalisa
- Rand, Larry
- Rosenstein, Melissa
- Scudmore, Janice
- Shum, Dorothy
- Sobhani, Nasim
- Swanson, Katherine
- Vu, Lan
2021
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