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American journal of human genetics, 2017-06, Vol.100 (6), p.895-906
- Strande, Natasha T.
- Riggs, Erin Rooney
- Buchanan, Adam H.
- Ceyhan-Birsoy, Ozge
- DiStefano, Marina
- Dwight, Selina S.
- Goldstein, Jenny
- Ghosh, Rajarshi
- Seifert, Bryce A.
- Sneddon, Tam P.
- Wright, Matt W.
- Milko, Laura V.
- Cherry, J. Michael
- Giovanni, Monica A.
- Murray, Michael F.
- O’Daniel, Julianne M.
- Ramos, Erin M.
- Santani, Avni B.
- Scott, Alan F.
- Plon, Sharon E.
- Rehm, Heidi L.
- Martin, Christa L.
- Berg, Jonathan S.
2017
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Genetics in medicine, 2016-12, Vol.18 (12), p.1282-1289
2016
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Human mutation, 2018-11, Vol.39 (11), p.1641-1649
- Harrison, Steven M.
- Dolinksy, Jill S.
- Chen, Wenjie
- Collins, Christin D.
- Das, Soma
- Deignan, Joshua L.
- Garber, Kathryn B.
- Garcia, John
- Jarinova, Olga
- Knight Johnson, Amy E.
- Koskenvuo, Juha W.
- Lee, Hane
- Mao, Rong
- Mar‐Heyming, Rebecca
- McFaddin, Andrew S.
- Moyer, Krista
- Nagan, Narasimhan
- Rentas, Stefan
- Santani, Avni B.
- Seppälä, Eija H.
- Shirts, Brian H.
- Tidwell, Timothy
- Topper, Scott
- Vincent, Lisa M.
- Vinette, Kathy
- Rehm, Heidi L.
2018
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The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48
- Baker, Samuel W.
- Murrell, Jill R.
- Nesbitt, Addie I.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Yu, Zhenming
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wilkens, Alisha B.
- Bhoj, Elizabeth J.
- Guan, Qiaoning
- Dulik, Matthew C.
- Conlin, Laura K.
- Abou Tayoun, Ahmad N.
- Luo, Minjie
- Wu, Chao
- Cao, Kajia
- Sarmady, Mahdi
- Bedoukian, Emma C.
- Tarpinian, Jennifer
- Medne, Livija
- Skraban, Cara M.
- Deardorff, Matthew A.
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2019
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The Journal of thoracic and cardiovascular surgery, 2014-12, Vol.148 (6), p.2560-2568
- Gaynor, J. William, MD
- Kim, Daniel Seung, BS
- Arrington, Cammon B., MD, PhD
- Atz, Andrew M., MD
- Bellinger, David C., PhD
- Burt, Amber A., MSPH
- Ghanayem, Nancy S., MD
- Jacobs, Jeffery P., MD
- Lee, Teresa M., MD
- Lewis, Alan B., MD
- Mahle, William T., MD
- Marino, Bradley S., MD
- Miller, Stephen G., MD
- Newburger, Jane W., MD, MPH
- Pizarro, Christian, MD
- Ravishankar, Chitra, MD
- Santani, Avni B., PhD
- Wilder, Nicole S., MD
- Jarvik, Gail P., MD, PhD
- Mital, Seema, MD
- Russell, Mark W., MD
2014
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American journal of human genetics, 2018-08, Vol.103 (2), p.305-316
- Gregor, Anne
- Sadleir, Lynette G.
- Asadollahi, Reza
- Azzarello-Burri, Silvia
- Battaglia, Agatino
- Ousager, Lilian Bomme
- Boonsawat, Paranchai
- Bruel, Ange-Line
- Buchert, Rebecca
- Calpena, Eduardo
- Cogné, Benjamin
- Dallapiccola, Bruno
- Distelmaier, Felix
- Elmslie, Frances
- Faivre, Laurence
- Haack, Tobias B.
- Harrison, Victoria
- Henderson, Alex
- Hunt, David
- Isidor, Bertrand
- Joset, Pascal
- Kumada, Satoko
- Lachmeijer, Augusta M.A.
- Lees, Melissa
- Lynch, Sally Ann
- Martinez, Francisco
- Matsumoto, Naomichi
- McDougall, Carey
- Mefford, Heather C.
- Miyake, Noriko
- Myers, Candace T.
- Moutton, Sébastien
- Nesbitt, Addie
- Novelli, Antonio
- Orellana, Carmen
- Rauch, Anita
- Rosello, Monica
- Saida, Ken
- Santani, Avni B.
- Sarkar, Ajoy
- Scheffer, Ingrid E.
- Shinawi, Marwan
- Steindl, Katharina
- Symonds, Joseph D.
- Zackai, Elaine H.
- Reis, André
- Sticht, Heinrich
- Zweier, Christiane
2018
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Genetics in medicine, 2020-02, Vol.22 (2), p.423-426
2020
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European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620
2019
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PloS one, 2014-07, Vol.9 (7), p.e103491-e103491
2014
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The Journal of molecular diagnostics : JMD, 2022-02, Vol.24 (2), p.177-188
2022
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Genetics in medicine, 2018-12, Vol.20 (12), p.1663-1676
- Sheppard, Sarah
- Biswas, Sawona
- Li, Mindy H.
- Jayaraman, Vijayakumar
- Slack, Ian
- Romasko, Edward J.
- Sasson, Ariella
- Brunton, Joshua
- Rajagopalan, Ramakrishnan
- Sarmady, Mahdi
- Abrudan, Jenica L.
- Jairam, Sowmya
- DeChene, Elizabeth T.
- Ying, Xiahoan
- Choi, Jiwon
- Wilkens, Alisha
- Raible, Sarah E.
- Scarano, Maria I.
- Santani, Avni
- Pennington, Jeffrey W.
- Luo, Minjie
- Conlin, Laura K.
- Devkota, Batsal
- Dulik, Matthew C.
- Spinner, Nancy B.
- Krantz, Ian D.
2018
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American journal of human genetics, 2018-11, Vol.103 (5), p.752-768
- Schanze, Ina
- Bunt, Jens
- Lim, Jonathan W.C.
- Schanze, Denny
- Dean, Ryan J.
- Alders, Marielle
- Blanchet, Patricia
- Attié-Bitach, Tania
- Berland, Siren
- Boogert, Steven
- Boppudi, Sangamitra
- Bridges, Caitlin J.
- Cho, Megan T.
- Dobyns, William B.
- Donnai, Dian
- Douglas, Jessica
- Earl, Dawn L.
- Edwards, Timothy J.
- Faivre, Laurence
- Fregeau, Brieana
- Genevieve, David
- Gérard, Marion
- Gatinois, Vincent
- Holder-Espinasse, Muriel
- Huth, Samuel F.
- Izumi, Kosuke
- Kerr, Bronwyn
- Lacaze, Elodie
- Lakeman, Phillis
- Mahida, Sonal
- Mirzaa, Ghayda M.
- Morgan, Sian M.
- Nowak, Catherine
- Peeters, Hilde
- Petit, Florence
- Pilz, Daniela T.
- Puechberty, Jacques
- Reinstein, Eyal
- Rivière, Jean-Baptiste
- Santani, Avni B.
- Schneider, Anouck
- Sherr, Elliott H.
- Smith-Hicks, Constance
- Wieland, Ilse
- Zackai, Elaine
- Zhao, Xiaonan
- Gronostajski, Richard M.
- Zenker, Martin
- Richards, Linda J.
2018
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2766-2775
2021
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Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608
2018
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Genetics in medicine, 2017-06, Vol.19 (6), p.715-718
2017
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American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1454-1459
2020
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American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1486-1493
2021
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The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286
- Murrell, Jill R
- Nesbitt, Addie May I
- Baker, Samuel W
- Pechter, Kieran B
- Balciuniene, Jorune
- Zhao, Xiaonan
- Denenberg, Elizabeth H
- DeChene, Elizabeth T
- Wu, Chao
- Jayaraman, Pushkala
- Cao, Kajia
- Gonzalez, Michael
- Devoto, Marcella
- Testori, Alessandro
- Monos, John D
- Dulik, Matthew C
- Conlin, Laura K
- Luo, Minjie
- McDonald Gibson, Kristin
- Guan, Qiaoning
- Sarmady, Mahdi
- Bhoj, Elizabeth
- Helbig, Ingo
- Zackai, Elaine H
- Bedoukian, Emma C
- Wilkens, Alisha
- Tarpinian, Jennifer
- Izumi, Kosuke
- Skraban, Cara M
- Deardorff, Matthew A
- Medne, Livija
- Krantz, Ian D
- Krock, Bryan L
- Santani, Avni B
2022
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American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1890-1896
- Ritter, Alyssa L.
- McDougall, Carey
- Skraban, Cara
- Medne, Livija
- Bedoukian, Emma C.
- Asher, Stephanie B.
- Balciuniene, Jorune
- Campbell, Colleen D.
- Baker, Samuel W.
- Denenberg, Elizabeth H.
- Mazzola, Sarah
- Fiordaliso, Sarah K.
- Krantz, Ian D.
- Kaplan, Paige
- Ierardi‐Curto, Lynne
- Santani, Avni B.
- Zackai, Elaine H.
- Izumi, Kosuke
2018
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Genetics in medicine, 2021-10, Vol.23 (10), p.1838-1846
- Murdock, David
- Kalla, Sara E.
- Wu, Tsung-Jung
- Li, Shoudong
- Wei, Wei-Qi
- Chung, Wendy K.
- Weng, Chunhua
- Adunyah, Samuel E.
- Balasubramanian, Adithya
- Baxter, Samantha
- Behr, Meckenzie
- Bland, Harris T.
- Blout, Carrie
- Borthwick, Kenneth
- Bottinger, Erwin P.
- Brodeur, Wendy
- Carroll, Andrew
- Castillo, Lisa
- Castro, Victor
- Chiang, Theodore
- Chung, Wendy
- Crane, Paul
- Crew, Katherine
- Crosslin, David R.
- Dayal, Jyoti
- De la Cruz, Jessica
- Denny, Josh C.
- Denson, Shawn
- Fasel, David
- Fedotov, Alex
- Feng, Qiping
- Fleharty, Mark
- Foster, Andrea
- Freimuth, Robert
- Fullerton, Stephanie M.
- Gainer, Vivian
- Gharavi, Ali
- Gibbs, Richard A.
- Gordon, Adam S.
- Graham, Chet
- Hain, Heather S.
- Harley, John
- Hartzler, Andrea
- Hayes, M. Geoffrey
- Hoell, Christin
- Hu, Jianhong
- Jayaseelan, Joy C.
- Jiang, Yunyun
- Joo, Yoonjung Yoonie
- Justice, Anne E.
- Kalra, Divya
- Key, Dustin
- Klee, Eric
- Kottyan, Leah
- Rahm, Alanna Kulchak
- Kullo, Iftikhar J.
- Liang, Wayne H.
- Linneman, James G.
- Liu, Xiuping
- Lyon, Hayley
- Macbeth, Alyssa
- Malin, Bradley
- Manolio, Teri
- McGowan, Michelle L.
- Mentch, Frank
- Rasouly, Hila Milo
- Murugan, Mullai
- Namjou, Bahram
- Onofrio, Robert C.
- Obeng, Aniwaa Owusu
- Person, Thomas N.
- Prows, Cynthia A.
- Ramirez, Andrea
- Rasmussen-Torvik, Laura
- Ritchie, Marylyn D.
- Roden, Dan M.
- Dan, Schaid
- Sengupta, Soumitra
- Shang, Ning
- Singh, Rajbir
- Smith, Joshua C.
- Smoller, Jordan W.
- Stanaway, Ian B.
- Taylor, Casey Overby
- Tolwinski, Kasia
- Vargas, Sean M.
- Walker, Kimberly
- Wang, Liwen
- Wang, Qiaoyan
- Wells, Quinn S.
- White, Peter S.
- Williams, Janet L.
- Wilson, Michael W.
- Witkowski, Leora
- Woolf, Betty
- Wynn, Julia
- Yang, Yaping
- Zhang, Ge
- Zhang, Lan
2021
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Genetics in medicine, 2018-08, Vol.20 (8), p.855-866
- Sanghvi, Rashesh V
- Buhay, Christian J
- Powell, Bradford C
- Tsai, Ellen A
- Dorschner, Michael O
- Hong, Celine S
- Lebo, Matthew S
- Sasson, Ariella
- Hanna, David S
- McGee, Sean
- Bowling, Kevin M
- Cooper, Gregory M
- Gray, David E
- Lonigro, Robert J
- Dunford, Andrew
- Brennan, Christine A
- Cibulskis, Carrie
- Walker, Kimberly
- Carneiro, Mauricio O
- Sailsbery, Joshua
- Hindorff, Lucia A
- Robinson, Dan R
- Santani, Avni
- Sarmady, Mahdi
- Rehm, Heidi L
- Biesecker, Leslie G
- Nickerson, Deborah A
- Hutter, Carolyn M
- Garraway, Levi
- Muzny, Donna M
- Wagle, Nikhil
2018
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Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.238-245
2010
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Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.130-130, Article 130
2016
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American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1442-1450
2019
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Genetics in medicine, 2018-11, Vol.20 (11), p.1486-1486
- Gibson, Kristin McDonald
- Nesbitt, Addie
- Cao, Kajia
- Yu, Zhenming
- Denenberg, Elizabeth
- DeChene, Elizabeth
- Guan, Qiaoning
- Bhoj, Elizabeth
- Zhou, Xiangdong
- Zhang, Bo
- Wu, Chao
- Dubbs, Holly
- Wilkens, Alisha
- Medne, Livija
- Bedoukian, Emma
- White, Peter S
- Pennington, Jeffrey
- Luo, Minjie
- Conlin, Laura
- Monos, Dimitri
- Sarmady, Mahdi
- Marsh, Eric
- Zackai, Elaine
- Spinner, Nancy
- Krantz, Ian
- Deardorff, Matt
- Santani, Avni
2018
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