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American journal of human genetics, 2014-05, Vol.94 (5), p.784-789
- Xia, Fan
- Bainbridge, Matthew N.
- Tan, Tiong Yang
- Wangler, Michael F.
- Scheuerle, Angela E.
- Zackai, Elaine H.
- Harr, Margaret H.
- Sutton, V. Reid
- Nalam, Roopa L.
- Zhu, Wenmiao
- Nash, Margot
- Ryan, Monique M.
- Yaplito-Lee, Joy
- Hunter, Jill V.
- Deardorff, Matthew A.
- Penney, Samantha J.
- Beaudet, Arthur L.
- Plon, Sharon E.
- Boerwinkle, Eric A.
- Lupski, James R.
- Eng, Christine M.
- Muzny, Donna M.
- Yang, Yaping
- Gibbs, Richard A.
2014
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American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2497-2502
2015
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Journal of personalized medicine, 2020-04, Vol.10 (2), p.30
- Wiesner, Georgia L
- Kulchak Rahm, Alanna
- Appelbaum, Paul
- Aufox, Sharon
- Bland, Sarah T
- Blout, Carrie L
- Christensen, Kurt D
- Chung, Wendy K
- Clayton, Ellen Wright
- Green, Robert C
- Harr, Margaret H
- Henrikson, Nora
- Hoell, Christin
- Holm, Ingrid A
- Jarvik, Gail P
- Kullo, Iftikhar J
- Lammers, Philip E
- Larson, Eric B
- Lindor, Noralane M
- Marasa, Maddalena
- F Myers, Melanie
- Peterson, Josh F
- Prows, Cynthia A
- Ralston, James D
- Milo Rasouly, Hila
- Sharp, Richard R
- Smith, Maureen E
- Van Driest, Sara L
- Williams, Janet L
- Williams, Marc S
- Wynn, Julia
- Leppig, Kathleen A
2020
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Journal of personalized medicine, 2022-11, Vol.12 (11), p.1910
2022
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HGG advances, 2021-04, Vol.2 (2), p.100024-100024, Article 100024
- Nair, Divya
- Li, Dong
- Erdogan, Hannah
- Yoon, Andrew
- Harr, Margaret H.
- Bergant, Gaber
- Peterlin, Borut
- Škrjanec Pušenjak, Maruša
- Jayakar, Parul
- Pfundt, Rolph
- Jansen, Sandra
- McWalter, Kirsty
- Sidhu, Alpa
- Saliganan, Sheila
- Agolini, Emanuele
- Jacob, Arthur
- Pasquier, Jennifer
- Arash, Rafii
- Kahrizi, Kimia
- Najmabadi, Hossein
- Ropers, Hans-Hilger
- Bhoj, Elizabeth J.
2021
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Genetics in medicine, 2018-10, Vol.20 (10), p.1175-1185
- Johnston, Jennifer J
- van der Smagt, Jasper J
- Rosenfeld, Jill A
- Pagnamenta, Alistair T
- Alswaid, Abdulrahman
- Baker, Eva H
- Blair, Edward
- Borck, Guntram
- Brinkmann, Julia
- Craigen, William
- Dung, Vu Chi
- Emrick, Lisa
- Everman, David B
- van Gassen, Koen L
- Gulsuner, Suleyman
- Harr, Margaret H
- Jain, Mahim
- Kuechler, Alma
- Leppig, Kathleen A
- McDonald-McGinn, Donna M
- Can, Ngoc Thi Bich
- Peleg, Amir
- Roeder, Elizabeth R
- Rogers, R Curtis
- Sagi-Dain, Lena
- Sapp, Julie C
- Schäffer, Alejandro A
- Schanze, Denny
- Stewart, Helen
- Taylor, Jenny C
- Verbeek, Nienke E
- Walkiewicz, Magdalena A
- Zackai, Elaine H
- Zweier, Christiane
- Zenker, Martin
- Lee, Brendan
- Biesecker, Leslie G
2018
Link zum Volltext
Human mutation, 2020-03, Vol.41 (3), p.641-654
- Assia Batzir, Nurit
- Kishor Bhagwat, Pranjali
- Larson, Austin
- Coban Akdemir, Zeynep
- Bagłaj, Maciej
- Bofferding, Leon
- Bosanko, Katherine B.
- Bouassida, Skander
- Callewaert, Bert
- Cannon, Ashley
- Enchautegui Colon, Yazmin
- Garnica, Adolfo D.
- Harr, Margaret H.
- Heck, Sandra
- Hurst, Anna C. E.
- Jhangiani, Shalini N.
- Isidor, Bertrand
- Littlejohn, Rebecca O.
- Liu, Pengfei
- Magoulas, Pilar
- Mar Fan, Helen
- Marom, Ronit
- McLean, Scott
- Nezarati, Marjan M.
- Nugent, Kimberly M.
- Petersen, Michael B.
- Rocha, Maria L.
- Roeder, Elizabeth
- Smigiel, Robert
- Tully, Ian
- Weisfeld‐Adams, James
- Wells, Katerina O.
- Posey, Jennifer E.
- Lupski, James R.
- Beaudet, Arthur L.
- Wangler, Michael F.
2020
Link zum Volltext
Genetics in medicine, 2022-05, Vol.24 (5), p.1130-1138
- Leppig, Kathleen A.
- Kulchak Rahm, Alanna
- Appelbaum, Paul
- Aufox, Sharon
- Bland, Harris T.
- Buchanan, Adam
- Christensen, Kurt D.
- Chung, Wendy K.
- Clayton, Ellen Wright
- Crosslin, David
- Denny, Josh
- DeVange, Shannon
- Gordon, Adam
- Green, Robert C.
- Hakonarson, Hakon
- Harr, Margaret H.
- Henrikson, Nora
- Hoell, Christin
- Holm, Ingrid A.
- Kullo, Iftikhar J.
- Jarvik, Gail P.
- Lammers, Philip E.
- Larson, Eric B.
- Lindor, Noralane M.
- Marasa, Maddalena
- Myers, Melanie F.
- Perez, Emma
- Peterson, Josh F.
- Pratap, Siddharth
- Prows, Cynthia A.
- Ralston, James D.
- Rasouly, Hila Milo
- Roden, Dan M.
- Sharp, Richard R.
- Singh, Rajbir
- Shaibi, Gabriel
- Smith, Maureen E.
- Sturm, Amy
- Thiese, Heidi A.
- Van Driest, Sara L.
- Williams, Janet
- Williams, Marc S.
- Wynn, Julia
- Blout Zawatsky, Carrie L.
- Wiesner, Georgia L.
2022
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American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.75-81
2018
Link zum Volltext
Journal of medical genetics, 2015-02, Vol.52 (2), p.104-110
- Kruszka, Paul
- Li, Dong
- Harr, Margaret H
- Wilson, Nathan R
- Swarr, Daniel
- McCormick, Elizabeth M
- Chiavacci, Rosetta M
- Li, Mindy
- Martinez, Ariel F
- Hart, Rachel A
- McDonald-McGinn, Donna M
- Deardorff, Matthew A
- Falk, Marni J
- Allanson, Judith E
- Hudson, Cindy
- Johnson, John P
- Saadi, Irfan
- Hakonarson, Hakon
- Muenke, Maximilian
- Zackai, Elaine H
2015
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European journal of medical genetics, 2017-11, Vol.60 (11), p.565-571
2017
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American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2101-2107
2017
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HGG advances, 2022-10, Vol.3 (4), p.100122, Article 100122
- Nair, Divya
- Li, Dong
- Erdogan, Hannah
- Yoon, Andrew
- Harr, Margaret H.
- Bergant, Gaber
- Peterlin, Borut
- Pušenjak, Maruša Škrjanec
- Jayakar, Parul
- Pfundt, Rolph
- Jansen, Sandra
- McWalter, Kirsty
- Sidhu, Alpa
- Saliganan, Sheila
- Agolini, Emanuele
- Jacob, Arthur
- Pasquier, Jennifer
- Arash, Rafii
- Kahrizi, Kimia
- Najmabadi, Hossein
- Ropers, Hans-Hilger
- Bhoj, Elizabeth J.
2022
Link zum Volltext
Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109
- Gracia-Diaz, Carolina
- Zhou, Yijing
- Yang, Qian
- Maroofian, Reza
- Espana-Bonilla, Paula
- Lee, Chul-Hwan
- Zhang, Shuo
- Padilla, Natàlia
- Fueyo, Raquel
- Waxman, Elisa A
- Lei, Sunyimeng
- Otrimski, Garrett
- Li, Dong
- Sheppard, Sarah E
- Mark, Paul
- Harr, Margaret H
- Hakonarson, Hakon
- Rodan, Lance
- Jackson, Adam
- Vasudevan, Pradeep
- Powel, Corrina
- Mohammed, Shehla
- Maddirevula, Sateesh
- Alzaidan, Hamad
- Faqeih, Eissa A
- Efthymiou, Stephanie
- Turchetti, Valentina
- Rahman, Fatima
- Maqbool, Shazia
- Salpietro, Vincenzo
- Ibrahim, Shahnaz H
- di Rosa, Gabriella
- Houlden, Henry
- Alharbi, Maha Nasser
- Al-Sannaa, Nouriya Abbas
- Bauer, Peter
- Zifarelli, Giovanni
- Estaras, Conchi
- Hurst, Anna C E
- Thompson, Michelle L
- Chassevent, Anna
- Smith-Hicks, Constance L
- de la Cruz, Xavier
- Holtz, Alexander M
- Elloumi, Houda Zghal
- Hajianpour, M J
- Rieubland, Claudine
- Braun, Dominique
- Banka, Siddharth
- French, Deborah L
- Heller, Elizabeth A
- Saade, Murielle
- Song, Hongjun
- Ming, Guo-Li
- Alkuraya, Fowzan S
- Agrawal, Pankaj B
- Reinberg, Danny
- Bhoj, Elizabeth J
- Martínez-Balbás, Marian A
- Akizu, Naiara
2023
Link zum Volltext
Human mutation, 2016-02, Vol.37 (2), p.148-154
- Huang, Lijia
- Vanstone, Megan R.
- Hartley, Taila
- Osmond, Matthew
- Barrowman, Nick
- Allanson, Judith
- Baker, Laura
- Dabir, Tabib A.
- Dipple, Katrina M.
- Dobyns, William B.
- Estrella, Jane
- Faghfoury, Hanna
- Favaro, Francine P.
- Goel, Himanshu
- Gregersen, Pernille A.
- Gripp, Karen W.
- Grix, Art
- Guion-Almeida, Maria-Leine
- Harr, Margaret H.
- Hudson, Cindy
- Hunter, Alasdair G.W.
- Johnson, John
- Joss, Shelagh K.
- Kimball, Amy
- Kini, Usha
- Kline, Antonie D.
- Lauzon, Julie
- Lildballe, Dorte L.
- López-González, Vanesa
- Martinezmoles, Johanna
- Meldrum, Cliff
- Mirzaa, Ghayda M.
- Morel, Chantal F.
- Morton, Jenny E.V.
- Pyle, Louise C.
- Quintero-Rivera, Fabiola
- Richer, Julie
- Scheuerle, Angela E.
- Schönewolf-Greulich, Bitten
- Shears, Deborah J.
- Silver, Josh
- Smith, Amanda C.
- Temple, I. Karen
- van de Kamp, Jiddeke M.
- van Dijk, Fleur S.
- Vandersteen, Anthony M.
- White, Sue M.
- Zackai, Elaine H.
- Zou, Ruobing
- Consortium, Care4Rare Canada
- Bulman, Dennis E.
- Boycott, Kym M.
- Lines, Matthew A.
2016
Link zum Volltext
HGG advances, 2022-10, Vol.3 (4), p.100122-100122
- Nair, Divya
- Li, Dong
- Erdogan, Hannah
- Yoon, Andrew
- Harr, Margaret H
- Bergant, Gaber
- Peterlin, Borut
- Pušenjak, Maruša Škrjanec
- Jayakar, Parul
- Pfundt, Rolph
- Jansen, Sandra
- McWalter, Kirsty
- Sidhu, Alpa
- Saliganan, Sheila
- Agolini, Emanuele
- Jacob, Arthur
- Pasquier, Jennifer
- Arash, Rafii
- Kahrizi, Kimia
- Najmabadi, Hossein
- Ropers, Hans-Hilger
- Bhoj, Elizabeth J
2022
Link zum Volltext
Genetics in medicine, 2018-02, Vol.20 (10), p.1175-1185
- Johnston, Jennifer J.
- van der Smagt, Jasper J.
- Rosenfeld, Jill A.
- Pagnamenta, Alistair T.
- Alswaid, Abdulrahman
- Baker, Eva H.
- Blair, Edward
- Borck, Guntram
- Brinkmann, Julia
- Craigen, William
- Dung, Vu Chi
- Emrick, Lisa
- Everman, David B.
- van Gassen, Koen L.
- Gulsuner, Suleyman
- Harr, Margaret H.
- Jain, Mahim
- Kuechler, Alma
- Leppig, Kathleen A.
- McDonald-McGinn, Donna M.
- Ngoc, Can Thi Bich
- Peleg, Amir
- Roeder, Elizabeth R.
- Rogers, R. Curtis
- Sagi-Dain, Lena
- Sapp, Julie C.
- Schäffer, Alejandro A.
- Schanze, Denny
- Stewart, Helen
- Taylor, Jenny C.
- Verbeek, Nienke E.
- Walkiewicz, Magdalena A.
- Zackai, Elaine H.
- Zweier, Christiane
- Zenker, Martin
- Lee, Brendan
- Biesecker, Leslie G.
2018
Link zum Volltext
HGG advances, 2022-10, Vol.3 (4), p.100125-100125, Article 100125
2022
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European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1473-1481
- Ji, Jianling
- Lee, Hane
- Argiropoulos, Bob
- Dorrani, Naghmeh
- Mann, John
- Martinez-Agosto, Julian A
- Gomez-Ospina, Natalia
- Gallant, Natalie
- Bernstein, Jonathan A
- Hudgins, Louanne
- Slattery, Leah
- Isidor, Bertrand
- Le Caignec, Cédric
- David, Albert
- Obersztyn, Ewa
- Wiśniowiecka-Kowalnik, Barbara
- Fox, Michelle
- Deignan, Joshua L
- Vilain, Eric
- Hendricks, Emily
- Horton Harr, Margaret
- Noon, Sarah E
- Jackson, Jessi R
- Wilkens, Alisha
- Mirzaa, Ghayda
- Salamon, Noriko
- Abramson, Jeff
- Zackai, Elaine H
- Krantz, Ian
- Innes, A Micheil
- Nelson, Stanley F
- Grody, Wayne W
- Quintero-Rivera, Fabiola
2015
Link zum Volltext
American journal of human genetics, 2019-11, Vol.105 (5), p.987-995
- Fiordaliso, Sarah K.
- Iwata-Otsubo, Aiko
- Ritter, Alyssa L.
- Quesnel-Vallières, Mathieu
- Fujiki, Katsunori
- Nishi, Eriko
- Hancarova, Miroslava
- Miyake, Noriko
- Morton, Jenny E.V.
- Lee, Sangmoon
- Hackmann, Karl
- Bando, Masashige
- Masuda, Koji
- Nakato, Ryuichiro
- Arakawa, Michiko
- Bhoj, Elizabeth
- Li, Dong
- Hakonarson, Hakon
- Takeda, Ryojun
- Harr, Margaret
- Keena, Beth
- Zackai, Elaine H.
- Okamoto, Nobuhiko
- Mizuno, Seiji
- Ko, Jung Min
- Valachova, Alica
- Prchalova, Darina
- Vlckova, Marketa
- Pippucci, Tommaso
- Seiler, Christoph
- Choi, Murim
- Matsumoto, Naomichi
- Di Donato, Nataliya
- Barash, Yoseph
- Sedlacek, Zdenek
- Shirahige, Katsuhiko
- Izumi, Kosuke
2019
Link zum Volltext
American journal of human genetics, 2015-08, Vol.97 (2), p.343-352
- Snijders Blok, Lot
- Madsen, Erik
- Juusola, Jane
- Gilissen, Christian
- Baralle, Diana
- Reijnders, Margot R.F.
- Venselaar, Hanka
- Helsmoortel, Céline
- Cho, Megan T.
- Hoischen, Alexander
- Vissers, Lisenka E.L.M.
- Koemans, Tom S.
- Wissink-Lindhout, Willemijn
- Eichler, Evan E.
- Romano, Corrado
- Van Esch, Hilde
- Stumpel, Connie
- Vreeburg, Maaike
- Smeets, Eric
- Oberndorff, Karin
- van Bon, Bregje W.M.
- Shaw, Marie
- Gecz, Jozef
- Haan, Eric
- Bienek, Melanie
- Jensen, Corinna
- Loeys, Bart L.
- Van Dijck, Anke
- Innes, A. Micheil
- Racher, Hilary
- Vermeer, Sascha
- Di Donato, Nataliya
- Rump, Andreas
- Tatton-Brown, Katrina
- Parker, Michael J.
- Henderson, Alex
- Lynch, Sally A.
- Fryer, Alan
- Ross, Alison
- Vasudevan, Pradeep
- Kini, Usha
- Newbury-Ecob, Ruth
- Chandler, Kate
- Male, Alison
- Dijkstra, Sybe
- Schieving, Jolanda
- Giltay, Jacques
- van Gassen, Koen L.I.
- Schuurs-Hoeijmakers, Janneke
- Tan, Perciliz L.
- Pediaditakis, Igor
- Haas, Stefan A.
- Retterer, Kyle
- Reed, Patrick
- Monaghan, Kristin G.
- Haverfield, Eden
- Natowicz, Marvin
- Myers, Angela
- Kruer, Michael C.
- Stein, Quinn
- Strauss, Kevin A.
- Brigatti, Karlla W.
- Keating, Katherine
- Burton, Barbara K.
- Kim, Katherine H.
- Charrow, Joel
- Norman, Jennifer
- Foster-Barber, Audrey
- Kline, Antonie D.
- Kimball, Amy
- Zackai, Elaine
- Harr, Margaret
- Fox, Joyce
- McLaughlin, Julie
- Lindstrom, Kristin
- Haude, Katrina M.
- van Roozendaal, Kees
- Brunner, Han
- Chung, Wendy K.
- Kooy, R. Frank
- Pfundt, Rolph
- Kalscheuer, Vera
- Mehta, Sarju G.
- Katsanis, Nicholas
- Kleefstra, Tjitske
2015
Link zum Volltext
American journal of human genetics, 2019-09, Vol.105 (3), p.588-605
- Venner, Eric
- Muzny, Donna M.
- Abrams, Debra
- Albertson-Junkans, Ladia
- Ames, Darren C.
- Aronson, Samuel
- Babb, Lawrence J.
- Balasubramanian, Adithya
- Bastarache, Lisa
- Behr, Meckenzie
- Blout, Carrie
- Bowser, Mark
- Brilliant, Murray
- Brodeur, Wendy
- Caraballo, Pedro
- Castro, Victor
- Chisholm, Rex L.
- Chung, Wendy
- Chute, Christopher G.
- City, Brittany
- Connolly, John J.
- Crane, Paul
- Crew, Katherine
- De Andrade, Mariza
- Denson, Shawn
- Denny, Josh
- DeSmet, Tim
- Dikilitas, Ozan
- Fullerton, Stephanie M.
- Gabriel, Stacey
- Gainer, Vivian
- Gharavi, Ali
- Glazer, Andrew M.
- Goehringer, Jessica
- Gordon, Adam S.
- Graham, Chet
- Dayal, Jyoti
- Hakonarson, Hakon
- Harden, Maegan V.
- Harr, Margaret
- Hayes, M. Geoffrey
- Henrikson, Nora
- Howell, Kayla M.
- Jiang, Yunyun
- Joo, Yoonjung Yoonie
- Justice, Anne E.
- Kalla, Sara E.
- Kalra, Divya
- Kelly, Melissa A.
- Key, Dustin
- Kiryluk, Krzysztof
- Kullo, Iftikhar J.
- Larson, Eric B.
- Lin, Chiao-Feng
- Linder, Jodell
- Macbeth, Alyssa
- Dinsmore, Michael J.
- Dodge, Sheila
- Fasel, David
- Fedotov, Alex
- Feng, Qiping
- McGowan, Michelle L.
- Meldrim, Jim
- Mosley, Jonathan
- Muniz, Jesse
- Murdock, David R.
- Murugan, Mullai
- Myers, Melanie F.
- Namjou, Bahram
- Ni, Yizhao
- Obeng, Aniwaa Owusu
- Taylor, Casey Overby
- Peterson, Josh F.
- Pratap, Siddharth
- Prows, Cynthia A.
- Ralston, James D.
- Ramaprasan, Arvind
- Rasmussen-Torvik, Laura
- Schaid, Dan
- Sengupta, Soumitra
- Singh, Rajbir
- Sleiman, Patrick M.A.
- Smoller, Jordan W.
- Stanaway, Ian B.
- Stroud, Mary
- Tolwinski, Kasia
- Van Driest, Sara L.
- Veenstra, David
- Vicente, Gina
- Wagner, Michael
- Walunas, Theresa
- Wells, Quinn
- White, Peter S.
- Wiley, Ken L.
- Wilson, Michael W.
- Woolf, Betty
- Yi, Victoria
- Zhang, Ge
- Zhang, Lan
- Gibbs, Richard A.
2019
Link zum Volltext
The Journal of molecular diagnostics : JMD, 2021-01, Vol.23 (1), p.91-102
2021
Link zum Volltext
American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1845-1851
2018
Link zum Volltext
Journal of personalized medicine, 2020-05, Vol.10 (2), p.38
- Lynch, John A
- Sharp, Richard R
- Aufox, Sharon A
- Bland, Sarah T
- Blout, Carrie
- Bowen, Deborah J
- Buchanan, Adam H
- Halverson, Colin
- Harr, Margaret
- Hebbring, Scott J
- Henrikson, Nora
- Hoell, Christin
- Holm, Ingrid A
- Jarvik, Gail
- Kullo, Iftikhar J
- Kochan, David C
- Larson, Eric B
- Lazzeri, Amanda
- Leppig, Kathleen A
- Madden, Jill
- Marasa, Maddalena
- Myers, Melanie F
- Peterson, Josh
- Prows, Cynthia A
- Kulchak Rahm, Alanna
- Ralston, James
- Milo Rasouly, Hila
- Scrol, Aaron
- Smith, Maureen E
- Sturm, Amy
- Stuttgen, Kelsey
- Wiesner, Georgia
- Williams, Marc S
- Wynn, Julia
- Williams, Janet L
2020
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