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- Splinter, Kimberly
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- Bacino, Carlos A
- Bellen, Hugo J
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American journal of human genetics, 2017-02, Vol.100 (2), p.185-192
- Ramoni, Rachel B.
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- Adams, David R.
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- Ashley, Euan A.
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American journal of human genetics, 2017-01, Vol.100 (1), p.128-137
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2017
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American journal of human genetics, 2018-08, Vol.103 (2), p.245-260
- Marcogliese, Paul C.
- Rosenfeld, Jill A.
- Koenig, Mary Kay
- Chen, Agnes H.
- Dickson, Patricia I.
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- Clark, Gary D.
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- Gahl, William A.
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- Hanchard, Neil A.
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- Jiang, Yong-hui
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- Krier, Joel B.
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- Lau, C. Christopher
- Lee, Brendan H.
- Levy, Shawn E.
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- McConkie-Rosell, Allyn
- McCormack, Colleen E.
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- Stoler, Joan M.
- Sweetser, David A.
- Toro, Camilo
- Urv, Tiina K.
- Vilain, Eric
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- Lee, Brendan
- Nelson, Stanley F.
- Goldstein, David B.
- Bellen, Hugo J.
2018
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American journal of human genetics, 2019-01, Vol.104 (1), p.164-178
- Sullivan, Jennifer A.
- Shashi, Vandana
- Jiang, Yong-hui
- Stong, Nicholas
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- Sakkubai, Naidu
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- Adams, David R.
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- Beggs, Alan H.
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- Bonner, Devon
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- Brown, Donna M.
- Brush, Matthew
- Chen, Shan
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- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dillon, Ani
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- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Eskin, Ascia
- Friedman, Noah D.
- Glanton, Emily
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- May, Thomas
- McCray, Alexa T.
- Might, Matthew
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Pallais, J. Carl
- Pena, Loren D.M.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Rosenfeld, Jill A.
- Sharma, Prashant
- Signer, Rebecca
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- Wahl, Colleen E.
- Waters, Katrina M.
- Westerfield, Monte
- Wise, Anastasia L.
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- Yang, Yaping
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- Campeau, Philippe M.
2019
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Genetics in medicine, 2019-01, Vol.21 (1), p.161-172
- Schoch, Kelly
- Spillmann, Rebecca
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- McConkie-Rosell, Allyn
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- Goldstein, David B.
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- Allard, Patrick
- Ashley, Euan A.
- Bacino, Carlos A.
- Beggs, Alan H.
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Brown, Donna M.
- Chen, Shan
- Coakley, Terra R.
- Cogan, Joy D.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Davidson, Jean M.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Draper, David D.
- Dries, Annika M.
- Eckstein, David J.
- Emrick, Lisa T.
- Enns, Gregory M.
- Esteves, Cecilia
- Estwick, Tyra
- Fernandez, Liliana
- Ferreira, Carlos
- Fisher, Paul G.
- Fogel, Brent L.
- Friedman, Noah D.
- Gahl, William A.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Handley, Lori H.
- Krasnewich, Donna M.
- Krier, Joel B.
- Lazar, Jozef
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Majcherska, Marta M.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- Martin, Martin G.
- McCormack, Colleen E.
- Might, Matthew
- Morimoto, Marie
- Mulvihill, John J.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Nelson, Stan F.
- Newberry, J. Scott
- Newman, John H.
- Nicholas, Sarah K.
- Pallais, J. Carl
- Palmer, Christina GS
- Parker, Neil H.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Sampson, Jacinda B.
- Scott, Daryl A.
- Sharma, Prashant
- Shashi, Vandana
- Silverman, Edwin K.
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walsh, Chris A.
- Wan, Jijun
- Wangler, Michael F.
- Ward, Patricia A.
- Wheeler, Matthew T.
- Wolfe, Lynne A.
- Worthey, Elizabeth A.
- Yamamoto, Shinya
- Yang, Yaping
- Yu, Guoyun
- Zhao, Chunli
- Zheng, Allison
2019
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American journal of human genetics, 2018-03, Vol.102 (3), p.494-504
- Yoon, Wan Hee
- Jangam, Sharayu
- Davidson, Jean M.
- Grove, Megan E.
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- Contrepois, Kévin
- Heyman, Heino M.
- Webb-Robertson, Bobbie-Jo M.
- Alejandro, Mercedes E.
- Allard, Patrick
- Balasubramanyam, Ashok
- Barseghyan, Hayk
- Bican, Anna
- Birch, Camille L.
- Bostwick, Bret L.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dorset, Daniel C.
- Draper, David D.
- Eckstein, David J.
- Emrick, Lisa T.
- Esteves, Cecilia
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- Ferreira, Carlos
- Glanton, Emily
- Godfrey, Rena A.
- Goldstein, David B.
- Gould, Sarah E.
- Gourdine, Jean-Philippe F.
- Hanchard, Neil A.
- Herzog, Matthew R.
- Hom, Jason
- Howerton, Ellen M.
- Huang, Yong
- Jacob, Howard J.
- Jiang, Yong-hui
- Johnston, Jean M.
- Jones, Angela L.
- Kohane, Isaac S.
- Krier, Joel B.
- Lazar, Jozef
- Lee, Hane
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Majcherska, Marta M.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- May, Thomas
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo M.
- Novacic, Donna
- Orange, Jordan S.
- Palmer, Christina G.S.
- Potocki, Lorraine
- Pusey, Barbara N.
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Samson, Susan L.
- Schoch, Kelly
- Schroeder, Molly C.
- Shashi, Vandana
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Stong, Nicholas
- Tifft, Cynthia J.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Ward, Patricia A.
- Yamamoto, Shinya
- Snyder, Michael
- Merker, Jason D.
- Fisher, Paul G.
- Mayr, Johannes A.
- Morris, Andrew A.
- Schelley, Susan
- Friederich, Marisa W.
- Wangler, Michael F.
- Taylor, Robert W.
- Bernstein, Jonathan A.
2018
Volltextzugriff (PDF)
American journal of human genetics, 2016-10, Vol.99 (4), p.991-999
- Pena, Loren D.M.
- Hempel, Maja
- McLaughlin, Heather M.
- Cho, Megan
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- Burrage, Lindsay C.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Graham, Brett H.
- Lalani, Seema R.
- Lewis, Richard A.
- Posey, Jennifer E.
- Hanchard, Neil A.
- Mercedes, Alejandro E.
- Wangler, Michael F.
- Muzny, Donna M.
- Ward, Patricia A.
- Ramoni, Rachel B.
- McCray, Alexa T.
- Mazur, Paul
- Splinter, Kimberly
- Esteves, Cecilia
- Jiang, Yong-hui
- McConkie-Rosell, Allyn
- Schoch, Kelly
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- Goldstein, David B.
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- Cooper, Cynthia M.
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- Krieg, Elizabeth L.
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- Lazar, Joe
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- Newberry, J. Scott
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- Dorset, Dan C.
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- Wise, Anastasia L.
- Eckstein, David J.
- Krasnewich, Donna M.
- Loomis, Carson R.
- Iglesias, Brenda
- Martin, Casey
- Koeller, David M.
- Ashley, Euan A.
- Zornio, Patricia A.
- Nelson, Stan F.
- Palmer, Christina G.S.
- Allard, Patrick
- Dell Angelica, Esteban C.
- Lee, Hane
- Papp, Jeanette C.
- Dorrani, Naghmeh
- Draper, David D.
- Estwick, Tyra
- Gahl, William A.
- Gartner, Valerie
- Godfrey, Rena A.
- Goheen, Mitchell
- Johnston, Jean M.
- Latham, Lea
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Malicdan, May V.
- McCarty, Alexandra J.
- Murphy, Jennifer L.
- Novacic, Donna
- Pusey, Barbara N.
- Sadozai, Sarah
- Schaffer, Katherine E.
- Sharma, Prashant
- Soldatos, Ariane G.
- Tifft, Cynthia J.
- Tolman, Nathanial J.
- Toro, Camilo
- Wahl, Colleen E.
- Weech, Alec A.
- Yu, Guoyun
- Hamid, Rizwan
- Bellet, Jane S.
- Keels, Martha Ann
- El-Dairi, Maysantoine
- Stumpel, Constance T.R.M.
- Klinkenberg, Sylvia
- Oberndorff, Karin
- Petrovski, Slavé
- Kuismin, Outi
- Korpi-Heikkilä, Satu
- Kurki, Mitja I.
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2016
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Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71
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Genetics in medicine, 2018-04, Vol.20 (4), p.464-469
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American journal of human genetics, 2017-02, Vol.100 (2), p.343-351
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American journal of human genetics, 2018-09, Vol.103 (3), p.456-456
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American journal of medical genetics. Part A, 2024-11, Vol.194 (11), p.e63798-n/a
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BMC health services research, 2018-08, Vol.18 (1), p.652-652, Article 652
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Science advances, 2021-05, Vol.7 (20)
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