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Journal of endocrinology, 2018-09, Vol.238 (3), p.R131-R141
2018
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Brain (London, England : 1878), 2018-09, Vol.141 (9), p.2576-2591
- Baker, Kate
- Gordon, Sarah L
- Melland, Holly
- Bumbak, Fabian
- Scott, Daniel J
- Jiang, Tess J
- Owen, David
- Turner, Bradley J
- Boyd, Stewart G
- Rossi, Mari
- Al-Raqad, Mohammed
- Elpeleg, Orly
- Peck, Dawn
- Mancini, Grazia M S
- Wilke, Martina
- Zollino, Marcella
- Marangi, Giuseppe
- Weigand, Heike
- Borggraefe, Ingo
- Haack, Tobias
- Stark, Zornitza
- Sadedin, Simon
- Tan, Tiong Yang
- Jiang, Yunyun
- Gibbs, Richard A
- Ellingwood, Sara
- Amaral, Michelle
- Kelley, Whitley
- Kurian, Manju A
- Cousin, Michael A
- Raymond, F Lucy
2018
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American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.717-731
- Dabell, Mindy Preston
- Rosenfeld, Jill A.
- Bader, Patricia
- Escobar, Luis F.
- El-Khechen, Dima
- Vallee, Stephanie E.
- Dinulos, Mary Beth Palko
- Curry, Cynthia
- Fisher, Jamie
- Tervo, Raymond
- Hannibal, Mark C.
- Siefkas, Kiana
- Wyatt, Philip R.
- Hughes, Lauren
- Smith, Rosemarie
- Ellingwood, Sara
- Lacassie, Yves
- Stroud, Tracy
- Farrell, Sandra A.
- Sanchez-Lara, Pedro A.
- Randolph, Linda M.
- Niyazov, Dmitriy
- Stevens, Cathy A.
- Schoonveld, Cheri
- Skidmore, David
- MacKay, Sara
- Miles, Judith H.
- Moodley, Manikum
- Huillet, Adam
- Neill, Nicholas J.
- Ellison, Jay W.
- Ballif, Blake C.
- Shaffer, Lisa G.
2013
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Journal of allergy and clinical immunology, 2023-02, Vol.151 (2), p.AB52-AB52
2023
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European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1611-1618
2019
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Nature genetics, 2010-03, Vol.42 (3), p.203-209
- Eichler, Evan E
- Girirajan, Santhosh
- Rosenfeld, Jill A
- Cooper, Gregory M
- Antonacci, Francesca
- Siswara, Priscillia
- Itsara, Andy
- Vives, Laura
- Walsh, Tom
- McCarthy, Shane E
- Baker, Carl
- Mefford, Heather C
- Kidd, Jeffrey M
- Browning, Sharon R
- Browning, Brian L
- Dickel, Diane E
- Levy, Deborah L
- Ballif, Blake C
- Platky, Kathryn
- Farber, Darren M
- Gowans, Gordon C
- Wetherbee, Jessica J
- Asamoah, Alexander
- Weaver, David D
- Mark, Paul R
- Dickerson, Jennifer
- Garg, Bhuwan P
- Ellingwood, Sara A
- Smith, Rosemarie
- Banks, Valerie C
- Smith, Wendy
- McDonald, Marie T
- Hoo, Joe J
- French, Beatrice N
- Hudson, Cindy
- Johnson, John P
- Ozmore, Jillian R
- Moeschler, John B
- Surti, Urvashi
- Escobar, Luis F
- El-Khechen, Dima
- Gorski, Jerome L
- Kussmann, Jennifer
- Salbert, Bonnie
- Lacassie, Yves
- Biser, Alisha
- McDonald-McGinn, Donna M
- Zackai, Elaine H
- Deardorff, Matthew A
- Shaikh, Tamim H
- Haan, Eric
- Friend, Kathryn L
- Fichera, Marco
- Romano, Corrado
- Gécz, Jozef
- DeLisi, Lynn E
- Sebat, Jonathan
- King, Mary-Claire
- Shaffer, Lisa G
2010
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American journal of human genetics, 2015-12, Vol.97 (6), p.922-932
- O’Rawe, Jason A.
- Wu, Yiyang
- Dörfel, Max J.
- Rope, Alan F.
- Au, P.Y. Billie
- Parboosingh, Jillian S.
- Moon, Sungjin
- Kousi, Maria
- Kosma, Konstantina
- Smith, Christopher S.
- Tzetis, Maria
- Schuette, Jane L.
- Hufnagel, Robert B.
- Prada, Carlos E.
- Martinez, Francisco
- Orellana, Carmen
- Crain, Jonathan
- Caro-Llopis, Alfonso
- Oltra, Silvestre
- Monfort, Sandra
- Jiménez-Barrón, Laura T.
- Swensen, Jeffrey
- Ellingwood, Sara
- Smith, Rosemarie
- Fang, Han
- Ospina, Sandra
- Stegmann, Sander
- Den Hollander, Nicolette
- Mittelman, David
- Highnam, Gareth
- Robison, Reid
- Yang, Edward
- Faivre, Laurence
- Roubertie, Agathe
- Rivière, Jean-Baptiste
- Monaghan, Kristin G.
- Wang, Kai
- Davis, Erica E.
- Katsanis, Nicholas
- Kalscheuer, Vera M.
- Wang, Edith H.
- Metcalfe, Kay
- Kleefstra, Tjitske
- Innes, A. Micheil
- Kitsiou-Tzeli, Sophia
- Rosello, Monica
- Keegan, Catherine E.
- Lyon, Gholson J.
2015
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American journal of human genetics, 2021-04, Vol.108 (4), p.749-756
- White, Susan M.
- Bhoj, Elizabeth
- Nellåker, Christoffer
- Lachmeijer, Augusta M.A.
- Marshall, Aren E.
- Boycott, Kym M.
- Li, Dong
- Smith, Wendy
- Hartley, Taila
- McBride, Arran
- Ernst, Michelle E.
- May, Alison S.
- Wieczorek, Dagmar
- Abou Jamra, Rami
- Koch-Hogrebe, Margarete
- Õunap, Katrin
- Pajusalu, Sander
- van Gassen, K.L.I.
- Sadedin, Simon
- Ellingwood, Sara
- Tan, Tiong Yang
- Christodoulou, John
- Barea, Jaime
- Lockhart, Paul J.
- Nezarati, Marjan M.
- Kernohan, Kristin D.
2021
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American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1795-1801
2014
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
- Donkervoort, Sandra
- Krause, Niklas
- Dergai, Mykola
- Yun, Pomi
- Koliwer, Judith
- Gorokhova, Svetlana
- Geist Hauserman, Janelle
- Cummings, Beryl B
- Hu, Ying
- Smith, Rosemarie
- Uapinyoying, Prech
- Ganesh, Vijay S
- Ghosh, Partha S
- Monaghan, Kristin G
- Edassery, Seby L
- Ferle, Pia E
- Silverstein, Sarah
- Chao, Katherine R
- Snyder, Molly
- Ellingwood, Sara
- Bharucha‐Goebel, Diana
- Iannaccone, Susan T
- Dal Peraro, Matteo
- Foley, A Reghan
- Savas, Jeffrey N
- Bolduc, Véronique
- Fasshauer, Dirk
- Bönnemann, Carsten G
- Schwake, Michael
2021
Link zum Volltext
Science advances, 2023-04, Vol.9 (17), p.eade0631-eade0631
- Patterson, Victoria
- Ullah, Farid
- Bryant, Laura
- Griffin, John N
- Sidhu, Alpa
- Saliganan, Sheila
- Blaile, Mackenzie
- Saenz, Margarita S
- Smith, Rosemarie
- Ellingwood, Sara
- Grange, Dorothy K
- Hu, Xuyun
- Mireguli, Maimaiti
- Luo, Yanfei
- Shen, Yiping
- Mulhern, Maureen
- Zackai, Elaine
- Ritter, Alyssa
- Izumi, Kosaki
- Hoefele, Julia
- Wagner, Matias
- Riedhammer, Korbinian M
- Seitz, Barbara
- Robin, Nathaniel H
- Goodloe, Dana
- Mignot, Cyril
- Keren, Boris
- Cox, Helen
- Jarvis, Joanna
- Hempel, Maja
- Gibson, Cynthia Forster
- Tran Mau-Them, Frederic
- Vitobello, Antonio
- Bruel, Ange-Line
- Sorlin, Arthur
- Mehta, Sarju
- Raymond, F Lucy
- Gilmore, Kelly
- Powell, Bradford C
- Weck, Karen
- Li, Chumei
- Vulto-van Silfhout, Anneke T
- Giacomini, Thea
- Mancardi, Maria Margherita
- Accogli, Andrea
- Salpietro, Vincenzo
- Zara, Federico
- Vora, Neeta L
- Davis, Erica E
- Burdine, Rebecca
- Bhoj, Elizabeth
2023
Link zum Volltext
American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500
- Barber, John C.K.
- Rosenfeld, Jill A.
- Foulds, Nicola
- Laird, Sophie
- Bateman, Mark S.
- Thomas, N. Simon
- Baker, Samantha
- Maloney, Viv K.
- Anilkumar, Arayamparambil
- Smith, Wendy E.
- Banks, Valerie
- Ellingwood, Sara
- Kharbutli, Yara
- Mehta, Lakshmi
- Eddleman, Keith A.
- Marble, Michael
- Zambrano, Regina
- Crolla, John A.
- Lamb, Allen N.
2013
Link zum Volltext
Genetics in medicine, 2005-01, Vol.7 (1), p.21-27
2005
Link zum Volltext
Nature genetics, 2010-02, Vol.42 (3), p.203-209
- Girirajan, Santhosh
- Rosenfeld, Jill A.
- Cooper, Gregory M.
- Antonacci, Francesca
- Siswara, Priscillia
- Itsara, Andy
- Vives, Laura
- Walsh, Tom
- McCarthy, Shane E.
- Baker, Carl
- Mefford, Heather C.
- Kidd, Jeffrey M.
- Browning, Sharon R.
- Browning, Brian L.
- Dickel, Diane E.
- Levy, Deborah L.
- Ballif, Blake C.
- Platky, Kathryn
- Farber, Darren M.
- Gowans, Gordon C.
- Wetherbee, Jessica J.
- Asamoah, Alexander
- Weaver, David D.
- Mark, Paul R.
- Dickerson, Jennifer
- Garg, Bhuwan P.
- Ellingwood, Sara A.
- Smith, Rosemarie
- Banks, Valerie C.
- Smith, Wendy
- McDonald, Marie T.
- Hoo, Joe J.
- French, Beatrice N.
- Hudson, Cindy
- Johnson, John P.
- Ozmore, Jillian R.
- Moeschler, John B.
- Surti, Urvashi
- Escobar, Luis F.
- El-Kechen, Dima
- Gorski, Jerome L.
- Kussman, Jennifer
- Salbert, Bonnie
- Lacassie, Yves
- Biser, Alisha
- McDonald-McGinn, Donna M.
- Zackai, Elaine H.
- Deardorff, Matthew A.
- Shaikh, Tamim H.
- Haan, Eric
- Friend, Kathryn L.
- Fichera, Marco
- Romano, Corrado
- Gécz, Jozef
- deLisi, Lynn E.
- Sebat, Jonathan
- King, Mary-Claire
- Shaffer, Lisa G.
- Eichler, Evan E.
2010
Link zum Volltext
Journal of Genetic Counseling, 2002, Vol.11 (2), p.147-148
2002
Link zum Volltext
Cell, 2020-11, Vol.183 (4), p.935-953.e19
- Gouwens, Nathan W.
- Sorensen, Staci A.
- Baftizadeh, Fahimeh
- Budzillo, Agata
- Lee, Brian R.
- Jarsky, Tim
- Alfiler, Lauren
- Baker, Katherine
- Barkan, Eliza
- Berry, Kyla
- Bertagnolli, Darren
- Bickley, Kris
- Bomben, Jasmine
- Braun, Thomas
- Brouner, Krissy
- Casper, Tamara
- Crichton, Kirsten
- Daigle, Tanya L.
- Dalley, Rachel
- de Frates, Rebecca A.
- Dee, Nick
- Desta, Tsega
- Lee, Samuel Dingman
- Dotson, Nadezhda
- Egdorf, Tom
- Ellingwood, Lauren
- Enstrom, Rachel
- Esposito, Luke
- Farrell, Colin
- Feng, David
- Fong, Olivia
- Gala, Rohan
- Gamlin, Clare
- Gary, Amanda
- Glandon, Alexandra
- Goldy, Jeff
- Gorham, Melissa
- Graybuck, Lucas
- Gu, Hong
- Hadley, Kristen
- Hawrylycz, Michael J.
- Henry, Alex M.
- Hill, DiJon
- Hupp, Madie
- Kebede, Sara
- Kim, Tae Kyung
- Kim, Lisa
- Kroll, Matthew
- Lee, Changkyu
- Link, Katherine E.
- Mallory, Matthew
- Mann, Rusty
- Maxwell, Michelle
- McGraw, Medea
- McMillen, Delissa
- Mukora, Alice
- Ng, Lindsay
- Ng, Lydia
- Ngo, Kiet
- Nicovich, Philip R.
- Oldre, Aaron
- Park, Daniel
- Peng, Hanchuan
- Penn, Osnat
- Pham, Thanh
- Pom, Alice
- Popović, Zoran
- Potekhina, Lydia
- Rajanbabu, Ramkumar
- Ransford, Shea
- Reid, David
- Rimorin, Christine
- Robertson, Miranda
- Ronellenfitch, Kara
- Ruiz, Augustin
- Sandman, David
- Smith, Kimberly
- Sulc, Josef
- Sunkin, Susan M.
- Szafer, Aaron
- Tieu, Michael
- Torkelson, Amy
- Trinh, Jessica
- Tung, Herman
- Wakeman, Wayne
- Ward, Katelyn
- Williams, Grace
- Zhou, Zhi
- Ting, Jonathan T.
- Arkhipov, Anton
- Sümbül, Uygar
- Lein, Ed S.
- Koch, Christof
- Yao, Zizhen
- Tasic, Bosiljka
- Berg, Jim
- Murphy, Gabe J.
- Zeng, Hongkui
2020
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