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American journal of human genetics, 2024-02, Vol.111 (2), p.364-382
- Rigter, Pomme M.F.
- de Konink, Charlotte
- Dunn, Matthew J.
- Proietti Onori, Martina
- Humberson, Jennifer B.
- Thomas, Matthew
- Barnes, Caitlin
- Prada, Carlos E.
- Weaver, K. Nicole
- Ryan, Thomas D.
- Caluseriu, Oana
- Conway, Jennifer
- Calamaro, Emily
- Fong, Chin-To
- Wuyts, Wim
- Meuwissen, Marije
- Hordijk, Eva
- Jonkers, Carsten N.
- Anderson, Lucas
- Yuseinova, Berfin
- Polonia, Sarah
- Beysen, Diane
- Stark, Zornitza
- Savva, Elena
- Poulton, Cathryn
- McKenzie, Fiona
- Bhoj, Elizabeth
- Bupp, Caleb P.
- Bézieau, Stéphane
- Mercier, Sandra
- Blevins, Amy
- Wentzensen, Ingrid M.
- Xia, Fan
- Rosenfeld, Jill A.
- Hsieh, Tzung-Chien
- Krawitz, Peter M.
- Elbracht, Miriam
- Veenma, Danielle C.M.
- Schulman, Howard
- Stratton, Margaret M.
- Küry, Sébastien
- van Woerden, Geeske M.
2024
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2617-2631
2016
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Clinical genetics, 2021-02, Vol.99 (2), p.259-268
- Jacobs, Eva Z.
- Brown, Kathleen
- Byler, Melissa C.
- D'haenens, Erika
- Dheedene, Annelies
- Henderson, Lindsay B.
- Humberson, Jennifer B.
- Jaarsveld, Richard H.
- Kanani, Farah
- Lebel, Robert Roger
- Millan, Francisca
- Oegema, Renske
- Oostra, Ann
- Parker, Michael J.
- Rhodes, Lindsay
- Saenz, Margarita
- Seaver, Laurie H.
- Si, Yue
- Vanlander, Arnaud
- Vergult, Sarah
- Callewaert, Bert
2021
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Genetics in medicine, 2020-08, Vol.22 (8), p.1413-1417
- Singh, Sakshi
- Gupta, Aditi
- Zech, Michael
- Sigafoos, Ashley N
- Clark, Karl J
- Dincer, Yasemin
- Wagner, Matias
- Humberson, Jennifer B
- Green, Sarah
- van Gassen, Koen
- Brandt, Tracy
- Schnur, Rhonda E
- Millan, Francisca
- Si, Yue
- Mall, Volker
- Winkelmann, Juliane
- Gavrilova, Ralitza H
- Klee, Eric W
- Engleman, Kendra
- Safina, Nicole P
- Slaugh, Rachel
- Bryant, Emily M
- Tan, Wen-Hann
- Granadillo, Jorge
- Misra, Sunita N
- Schaefer, G Bradley
- Towner, Shelley
- Brilstra, Eva H
- Koeleman, Bobby P C
2020
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Journal of medical case reports, 2016-08, Vol.10 (1), p.223-223, Article 223
2016
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JAMA neurology, 2022-12, Vol.79 (12), p.1267
- McKnight, Dianalee
- Morales, Ana
- Hatchell, Kathryn E
- Bonkowsky, Joshua L
- Perry, Michael Scott
- Borlot, Felippe
- Moretz, Chad
- Aradhya, Swaroop
- Haldeman-Englert, Chad R
- Levy, Rebecca J
- Parachuri, Venu G
- Lay-Son, Guillermo
- de Montellano, David J Dávila-Ortiz
- Ramirez-Garcia, Miguel Angel
- Benítez Alonso, Edmar O
- Ziobro, Julie
- Chirita-Emandi, Adela
- Kulasa-Luke, Dianne
- Megarbane, Andre
- Chagnon, Sarah L
- Humberson, Jennifer B
- Silva, Sebastian
- Zarroli, Katherine
- Boyarchuk, Oksana
- Nelson, Gary R
- Palmquist, Rachel
- Hammond, Katherine C
- Hwang, Sean T
- Boutlier, Susan B
- Nolan, Melinda
- Batley, Kaitlin Y
- Chavda, Devraj
- Reyes-Silva, Carlos Alberto
- Miroshnikov, Oleksandr
- Zuccarelli, Britton
- Wheless, James W
- Seinfeld, Syndi
- Kanhangad, Manoj
- Freeman, Jeremy L
- Monroy-Santoyo, Susana
- Rodriguez-Vazquez, Natalia
- Ryan, Monique M
- Machie, Michelle
- Guerra, Patricio
- Candee, Meghan S
- Bupp, Caleb P
- Muller, 2nd, Eric
- Lupo, Pamela
- Pedersen, Robert C
- Arain, Amir M
- Murphy, Andrea
- Schatz, Krista
- Mu, Weiyi
- Kalika, Paige M
- Plaza, Lautaro
- Lora, Evelyn G
- Carson, Robert P
- Svystilnyk, Victoria
- Venegas, Viviana
- Jiang, Huiyuan
- Stetsenko, Tetiana
- Dueñas-Roque, Milagros M
- Hurst, Anna C E
- Smith, Douglas M
- Massingham, Lauren J
- Pisani, Laura
- Costin, Carrie E
- Filloux, Francis M
- Ananth, Amitha L
- Mohamed, Ismail S
- Dao, Jasmin M
- Fahey, Michael C
- Aliu, Ermal
- Falchek, Stephen
- Press, Craig A
- Treat, Lauren
- Eschbach, Krista
- Starks, Angela
- Kammeyer, Ryan
- Bear, Joshua J
- Jacobson, Mona
- Chernuha, Veronika
- Sweney, Matthew T
- Espinoza, A Chris
- Van Orman, Colin B
- Weinstock, Arie
- Raza, Muhammad
- Rojas Carrion, Miguel David
- Chari, Geetha
- Marsh, Eric D
- Shiloh-Malawsky, Yael
- Parikh, Sumit
- Fulton, Stephen
- Sogawa, Yoshimi
- Malets, Myroslava
- Montiel Blanco, Johnny David
- Habela, Christa W
- Wilson, Carey A
- Guzmán, Guillermo G
- Pavliuk, Mariia
2022
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American journal of human genetics, 2019-03, Vol.104 (3), p.530-541
- Cogné, Benjamin
- Ehresmann, Sophie
- Beauregard-Lacroix, Eliane
- Rousseau, Justine
- Besnard, Thomas
- Garcia, Thomas
- Petrovski, Slavé
- Avni, Shiri
- McWalter, Kirsty
- Blackburn, Patrick R.
- Sanders, Stephan J.
- Uguen, Kévin
- Harris, Jacqueline
- Cohen, Julie S.
- Blyth, Moira
- Lehman, Anna
- Berg, Jonathan
- Li, Mindy H.
- Kini, Usha
- Joss, Shelagh
- von der Lippe, Charlotte
- Gordon, Christopher T.
- Sutton, Vernon R.
- Johnston, Jennifer J.
- Poduri, Annapurna
- Nordenskjöld, Magnus
- Shashi, Vandana
- Gerkes, Erica H.
- Bongers, Ernie M.H.F.
- Gilissen, Christian
- Zarate, Yuri A.
- Kvarnung, Malin
- Lally, Kevin P.
- Kulch, Peggy A.
- Daniels, Brina
- Hernandez-Garcia, Andres
- Stong, Nicholas
- Retterer, Kyle
- Sullivan, Jennifer
- Geisheker, Madeleine R.
- Stray-Pedersen, Asbjorg
- Tarpinian, Jennifer M.
- Sapp, Julie C.
- Zyskind, Jacob
- Holla, Øystein L.
- Bedoukian, Emma
- Filippini, Francesca
- Guimier, Anne
- Picard, Arnaud
- Busk, Øyvind L.
- Punetha, Jaya
- Pfundt, Rolph
- Lindstrand, Anna
- Nordgren, Ann
- Kalb, Fayth
- Desai, Megha
- Ebanks, Ashley Harmon
- Jhangiani, Shalini N.
- Zackai, Elaine H.
- Begtrup, Amber
- Song, Xiaofei
- Toutain, Annick
- Wentzensen, Ingrid M.
- Odent, Sylvie
- Bonneau, Dominique
- Latypova, Xénia
- Deb, Wallid
- Redon, Sylvia
- Bilan, Frédéric
- Legendre, Marine
- Troyer, Caitlin
- Whitlock, Kerri
- Caluseriu, Oana
- Pichurin, Pavel N.
- Gavrilova, Ralitza
- Rinne, Tuula
- Park, Meredith
- Shain, Catherine
- Heinzen, Erin L.
- Xiao, Rui
- Amiel, Jeanne
- Isidor, Bertrand
- Biesecker, Leslie G.
- Lowenstein, Dan
- Posey, Jennifer E.
- Denommé-Pichon, Anne-Sophie
- Férec, Claude
- Yang, Xiang-Jiao
- Rosenfeld, Jill A.
- Gilbert-Dussardier, Brigitte
- Audebert-Bellanger, Séverine
- Stessman, Holly A.F.
- Nellaker, Christoffer
- Yang, Yaping
- Lupski, James R.
- Eichler, Evan E.
- Bolduc, Francois
- Bézieau, Stéphane
- Küry, Sébastien
- Campeau, Philippe M.
2019
Link zum Volltext
Molecular cell, 2021-11, Vol.81 (22), p.4663-4676.e8
- Liu, Sanxiong
- Aldinger, Kimberly A.
- Cheng, Chi Vicky
- Kiyama, Takae
- Dave, Mitali
- McNamara, Hanna K.
- Zhao, Wukui
- Stafford, James M.
- Descostes, Nicolas
- Lee, Pedro
- Caraffi, Stefano G.
- Ivanovski, Ivan
- Errichiello, Edoardo
- Zweier, Christiane
- Zuffardi, Orsetta
- Schneider, Michael
- Papavasiliou, Antigone S.
- Perry, M. Scott
- Humberson, Jennifer
- Cho, Megan T.
- Weber, Astrid
- Swale, Andrew
- Badea, Tudor C.
- Mao, Chai-An
- Garavelli, Livia
- Dobyns, William B.
- Reinberg, Danny
2021
Link zum Volltext
Molecular cell, 2021-11, Vol.81 (22), p.4757-4757
- Liu, Sanxiong
- Aldinger, Kimberly A.
- Cheng, Chi Vicky
- Kiyama, Takae
- Dave, Mitali
- McNamara, Hanna K.
- Zhao, Wukui
- Stafford, James M.
- Descostes, Nicolas
- Lee, Pedro
- Caraffi, Stefano G.
- Ivanovski, Ivan
- Errichiello, Edoardo
- Zweier, Christiane
- Zuffardi, Orsetta
- Schneider, Michael
- Papavasiliou, Antigone S.
- Perry, M. Scott
- Humberson, Jennifer
- Cho, Megan T.
- Weber, Astrid
- Swale, Andrew
- Badea, Tudor C.
- Mao, Chai-An
- Garavelli, Livia
- Dobyns, William B.
- Reinberg, Danny
2021
Link zum Volltext
HGG advances, 2024-04, Vol.5 (2), p.100273-100273, Article 100273
- Ansari, Morad
- Faour, Kamli N.W.
- Shimamura, Akiko
- Grimes, Graeme
- Kao, Emeline M.
- Denhoff, Erica R.
- Blatnik, Ana
- Ben-Isvy, Daniel
- Wang, Lily
- Helm, Benjamin M.
- Firth, Helen
- Breman, Amy M.
- Bijlsma, Emilia K.
- Iwata-Otsubo, Aiko
- de Ravel, Thomy J.L.
- Fusaro, Vincent
- Fryer, Alan
- Nykamp, Keith
- Stühn, Lara G.
- Haack, Tobias B.
- Korenke, G. Christoph
- Constantinou, Panayiotis
- Bujakowska, Kinga M.
- Low, Karen J.
- Place, Emily
- Humberson, Jennifer
- Napier, Melanie P.
- Hoffman, Jessica
- Juusola, Jane
- Deardorff, Matthew A.
- Shao, Wanqing
- Rockowitz, Shira
- Krantz, Ian
- Kaur, Maninder
- Raible, Sarah
- Dortenzio, Victoria
- Kliesch, Sabine
- Singer-Berk, Moriel
- Groopman, Emily
- DiTroia, Stephanie
- Ballal, Sonia
- Srivastava, Siddharth
- Rothfelder, Kathrin
- Biskup, Saskia
- Rzasa, Jessica
- Kerkhof, Jennifer
- McConkey, Haley
- Sadikovic, Bekim
- Hilton, Sarah
- Banka, Siddharth
- Tüttelmann, Frank
- Conrad, Donald F.
- O’Donnell-Luria, Anne
- Talkowski, Michael E.
- FitzPatrick, David R.
- Boone, Philip M.
2024
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