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The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331
- Girirajan, Santhosh
- Rosenfeld, Jill A
- Coe, Bradley P
- Parikh, Sumit
- Friedman, Neil
- Goldstein, Amy
- Filipink, Robyn A
- McConnell, Juliann S
- Angle, Brad
- Meschino, Wendy S
- Nezarati, Marjan M
- Asamoah, Alexander
- Jackson, Kelly E
- Gowans, Gordon C
- Martin, Judith A
- Carmany, Erin P
- Stockton, David W
- Schnur, Rhonda E
- Penney, Lynette S
- Martin, Donna M
- Raskin, Salmo
- Leppig, Kathleen
- Thiese, Heidi
- Smith, Rosemarie
- Aberg, Erika
- Niyazov, Dmitriy M
- Escobar, Luis F
- El-Khechen, Dima
- Johnson, Kisha D
- Lebel, Robert R
- Siefkas, Kiana
- Ball, Susie
- Shur, Natasha
- McGuire, Marianne
- Brasington, Campbell K
- Spence, J. Edward
- Martin, Laura S
- Clericuzio, Carol
- Ballif, Blake C
- Shaffer, Lisa G
- Eichler, Evan E
2012
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PLoS genetics, 2014-10, Vol.10 (10), p.e1004669-e1004669
- Gaston, Daniel
- Hansford, Samantha
- Oliveira, Carla
- Nightingale, Mathew
- Pinheiro, Hugo
- Macgillivray, Christine
- Kaurah, Pardeep
- Rideout, Andrea L
- Steele, Patricia
- Soares, Gabriela
- Huang, Weei-Yuarn
- Whitehouse, Scott
- Blowers, Sarah
- LeBlanc, Marissa A
- Jiang, Haiyan
- Greer, Wenda
- Samuels, Mark E
- Orr, Andrew
- Fernandez, Conrad V
- Majewski, Jacek
- Ludman, Mark
- Dyack, Sarah
- Penney, Lynette S
- McMaster, Christopher R
- Huntsman, David
- Bedard, Karen
- Horwitz, Marshall S.
2014
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Genetics in medicine, 2016-11, Vol.18 (11), p.1111-1118
- Ziats, Mark N.
- Goin-Kochel, Robin P.
- Berry, Leandra N.
- Ali, May
- Ge, Jun
- Guffey, Danielle
- Rosenfeld, Jill A.
- Bader, Patricia
- Gambello, Michael J.
- Wolf, Varina
- Penney, Lynette S.
- Miller, Ryan
- Lebel, Robert Roger
- Kane, Jeffrey
- Bachman, Kristine
- Troxell, Robin
- Clark, Gary
- Minard, Charles G.
- Stankiewicz, Pawel
- Beaudet, Arthur
- Schaaf, Christian P.
2016
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Human genetics, 2013-11, Vol.132 (11), p.1223-1234
2013
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Journal of genetic counseling, 2021-10, Vol.30 (5), p.1491-1499
2021
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American journal of human genetics, 2023-10, Vol.110 (10), p.1616-1627
- Farncombe, Kirsten M.
- Wong, Derek
- Norman, Maia L.
- Oldfield, Leslie E.
- Sobotka, Julia A.
- Basik, Mark
- Bombard, Yvonne
- Carile, Victoria
- Dawson, Lesa
- Foulkes, William D.
- Malkin, David
- Karsan, Aly
- Parkin, Patricia
- Penney, Lynette S.
- Pollett, Aaron
- Schrader, Kasmintan A.
- Pugh, Trevor J.
- Kim, Raymond H.
- Aguilar-Mahecha, Adriana
- Aronson, Melyssa
- Baxter, Nancy N.
- Bedard, Phil
- Berman, Hal
- Bernardini, Marcus Q.
- Chan, Clarissa F.
- Cil, Tulin
- Clarke, Blaise
- Dhalla, Irfan
- Elser, Christine
- Ene, Gabrielle EV
- Ferguson, Sarah
- Genge, Laura
- Gryfe, Robert
- Jacobson, Michelle R.
- Kastner, Monika
- Kaurah, Pardeep
- Lafleur, Josiane
- Lerner-Ellis, Jordan
- Lheureux, Stephanie
- MacDonald, Shelley M.
- McCuaig, Jeanna
- Mckee, Brian
- Mittmann, Nicole
- Panchal, Seema
- Piccinin, Carolyn
- Regier, Dean
- Rezoug, Zoulikha
- Rideout, Krista
- Semotiuk, Kara
- Singh, Sara
- Siu, Lillian
- Sun, Sophie
- Thain, Emily
- Wallace, Karin
- Ward, Thomas
- Westergard, Shelley
- Whittle, Stacy
- Xu, Wei
- Yu, Celeste
2023
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Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729
2018
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The oncologist (Dayton, Ohio), 2022-05, Vol.27 (5), p.e393-e401
2022
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Cancer genetics, 2013-05, Vol.206 (5), p.206-210
2013
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The American journal of gastroenterology, 2016-02, Vol.111 (2), p.275-284
- Aronson, Melyssa
- Gallinger, Steven
- Cohen, Zane
- Cohen, Shlomi
- Dvir, Rina
- Elhasid, Ronit
- Baris, Hagit N
- Kariv, Revital
- Druker, Harriet
- Chan, Helen
- Ling, Simon C
- Kortan, Paul
- Holter, Spring
- Semotiuk, Kara
- Malkin, David
- Farah, Roula
- Sayad, Alain
- Heald, Brandie
- Kalady, Matthew F
- Penney, Lynette S
- Rideout, Andrea L
- Rashid, Mohsin
- Hasadsri, Linda
- Pichurin, Pavel
- Riegert-Johnson, Douglas
- Campbell, Brittany
- Bakry, Doua
- Al-Rimawi, Hala
- Alharbi, Qasim Kholaif
- Alharbi, Musa
- Shamvil, Ashraf
- Tabori, Uri
- Durno, Carol
2016
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American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.119-133
- Dyment, David A.
- O'Donnell‐Luria, Anne
- Agrawal, Pankaj B.
- Coban Akdemir, Zeynep
- Aleck, Kyrieckos A.
- Antaki, Danny
- Al Sharhan, Hind
- Au, Ping‐Yee B.
- Aydin, Hatip
- Beggs, Alan H.
- Bilguvar, Kaya
- Boerwinkle, Eric
- Brand, Harrison
- Brownstein, Catherine A.
- Buyske, Steve
- Chodirker, Bernard
- Choi, Jungmin
- Chudley, Albert E.
- Clericuzio, Carol L.
- Cox, Gerald F.
- Curry, Cynthia
- Boer, Elke
- Vries, Bert B. A.
- Dunn, Kathryn
- Dutmer, Cullen M.
- England, Eleina M.
- Fahrner, Jill A.
- Geckinli, Bilgen B.
- Genetti, Casie A.
- Gezdirici, Alper
- Gibson, William T.
- Gleeson, Joseph G.
- Greenberg, Cheryl R.
- Hall, April
- Hamosh, Ada
- Hartley, Taila
- Jhangiani, Shalini N.
- Karaca, Ender
- Kernohan, Kristin
- Lauzon, Julie L.
- Lewis, M. E. Suzanne
- Lowry, R. Brian
- López‐Giráldez, Francesc
- Matise, Tara C.
- McEvoy‐Venneri, Jennifer
- McInnes, Brenda
- Mhanni, Aziz
- Garcia Minaur, Sixto
- Moilanen, Jukka
- Nguyen, An
- Nowaczyk, Malgorzata J. M.
- Posey, Jennifer E.
- Õunap, Katrin
- Pehlivan, Davut
- Pajusalu, Sander
- Penney, Lynette S.
- Poterba, Timothy
- Prontera, Paolo
- Doriqui, Maria Juliana Rodovalho
- Sawyer, Sarah L.
- Sobreira, Nara
- Stanley, Valentina
- Torun, Deniz
- Wargowski, David
- Witmer, P. Dane
- Wong, Isaac
- Xing, Jinchuan
- Zaki, Maha S.
- Zhang, Yeting
- Boycott, Kym M.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Blue, Elizabeth E.
- Innes, A. Micheil
2021
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European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.761-765
2015
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Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729
2018
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Pediatric cardiology, 2011-02, Vol.32 (2), p.208-210
2011
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Gastroenterology (New York, N.Y. 1943), 2015-04, Vol.148 (4), p.S-110-S-111
- Durno, Carol
- Aronson, Melyssa
- Tabori, Uri
- Gallinger, Steven
- Cohen, Shlomi
- Dvir, Rina
- Elhasid, Ronit
- Feldman, Hagit B
- Druker, Harriet
- Chan, Helen
- Ling, Simon
- Kortan, Paul P
- Holter, Spring
- Semotiuk, Kara
- Malkin, David
- Farah, Roula
- Leach, Brandie
- Kalady, Matthew F
- Penney, Lynette S
- Rideout, Andrea L
- Rashid, Mohsin
- Hasadsri, Linda
- Pichurin, Pavel
- Riegert-Johnson, Douglas
- Campbell, Brittany
- Bakry, Doua
- Rimawi, Hala
- Alharbi, Qasim K
- Alharbi, Musa M
- Ashraf, Shamvil
- Kariv, Revital
- Sayad, Alain
- Cohen, Zane
2015
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Obstetrics and gynecology (New York. 1953), 2009-08, Vol.114 (2, Part 2 Suppl), p.494-498
2009
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European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.176-181
- Adi-Wauran, Ella
- Clausen, Marc
- Shickh, Salma
- Gagliardi, Anna R
- Denburg, Avram
- Oldfield, Leslie E
- Sam, Jordan
- Reble, Emma
- Krishnapillai, Suvetha
- Regier, Dean A
- Baxter, Nancy N
- Dawson, Lesa
- Penney, Lynette S
- Foulkes, William
- Basik, Mark
- Sun, Sophie
- Schrader, Kasmintan A
- Karsan, Aly
- Pollett, Aaron
- Pugh, Trevor J
- Kim, Raymond H
- Bombard, Yvonne
2024
Link zum Volltext
PLoS genetics, 2014-10, Vol.10 (10)
- Gaston, Daniel
- Hansford, Samantha
- Oliveira, Carla
- Nightingale, Mathew
- Pinheiro, Hugo
- Macgillivray, Christine
- Kaurah, Pardeep
- Rideout, Andrea L
- Steele, Patricia
- Soares, Gabriela
- Huang, Weei-Yuarn
- Whitehouse, Scott
- Blowers, Sarah
- LeBlanc, Marissa A
- Jiang, Haiyan
- Greer, Wenda
- Samuels, Mark E
- Orr, Andrew
- Fernandez, Conrad V
- Majewski, Jacek
- Ludman, Mark
- Dyack, Sarah
- Penney, Lynette S
- McMaster, Christopher R
- Huntsman, David
- Bedard, Karen
2014
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Paediatrics & child health, 2023-09, Vol.28 (Supplement_1), p.e52-e53
2023
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BMC women's health, 2022-06, Vol.22 (1), p.1-7, Article 263
2022
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CJC pediatric and congenital heart disease, 2024-02
2024
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International journal of pediatric otorhinolaryngology, 2019-05, Vol.120, p.68-72
2019
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Journal of obstetrics and gynaecology Canada, 2019-05, Vol.41 (5), p.736-737
2019
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Genetics in medicine, 2022-10, Vol.24 (10), p.2167-2179
- Massingham, Lauren J.
- Nuñez, Sabrina
- Bernstein, Jonathan A.
- Gardner, David P.
- Parikh, Aditi Shah
- Strovel, Erin T.
- Quintero-Rivera, Fabiola
- Anderson, Hanna
- Ashfaq, Myla
- Bernstein, Jonathan
- Burke, Leah
- Cross, Courtney
- Dhar, Shweta
- Garber, Kathryn
- Gardner, David
- Gold, June-Anne
- Hudder, Alice
- Hyland, Katherine
- Larsen, Niels
- Massingham, Lauren
- Parikh, Aditi
- Penney, Lynette
- Philp, Alisdair (Rod)
- Popejoy, Alice B.
- Sobering, Andrew K.
- Starr, Lois
- Strovel, Erin
- Toriello, Helga V.
- Weiler, Tracey
- Yatsenko, Svetlana
2022
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Paediatrics & child health, 2014-02, Vol.19 (2), p.84-86
2014
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