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American journal of human genetics, 2020-02, Vol.106 (2), p.246-255
- Wagner, Matias
- Skorobogatko, Yuliya
- Pode-Shakked, Ben
- Powell, Cynthia M.
- Alhaddad, Bader
- Seibt, Annette
- Barel, Ortal
- Heimer, Gali
- Hoffmann, Chen
- Demmer, Laurie A.
- Perilla-Young, Yezmin
- Remke, Marc
- Wieczorek, Dagmar
- Navaratnarajah, Tharsini
- Lichtner, Peter
- Klee, Dirk
- Shamseldin, Hanan E.
- Al Mutairi, Fuad
- Mayatepek, Ertan
- Strom, Tim
- Meitinger, Thomas
- Alkuraya, Fowzan S.
- Anikster, Yair
- Saltiel, Alan R.
- Distelmaier, Felix
2020
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Clinical epigenetics, 2019-04, Vol.11 (1), p.64-17, Article 64
- Bend, Eric G
- Aref-Eshghi, Erfan
- Everman, David B
- Rogers, R Curtis
- Cathey, Sara S
- Prijoles, Eloise J
- Lyons, Michael J
- Davis, Heather
- Clarkson, Katie
- Gripp, Karen W
- Li, Dong
- Bhoj, Elizabeth
- Zackai, Elaine
- Mark, Paul
- Hakonarson, Hakon
- Demmer, Laurie A
- Levy, Michael A
- Kerkhof, Jennifer
- Stuart, Alan
- Rodenhiser, David
- Friez, Michael J
- Stevenson, Roger E
- Schwartz, Charles E
- Sadikovic, Bekim
2019
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Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037
2021
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Proceedings of the National Academy of Sciences - PNAS, 2013-09, Vol.110 (37), p.14990-14994
- Goldlust, Ian S.
- Hermetz, Karen E.
- Catalano, Lisa M.
- Barfield, Richard T.
- Cozad, Rebecca
- Wynn, Grace
- Ozdemir, Alev Cagla
- Conneely, Karen N.
- Mulle, Jennifer G.
- Dharamrup, Shikha
- Hegde, Madhuri R.
- Kim, Katherine H.
- Angle, Brad
- Colley, Alison
- Webb, Amy E.
- Thorland, Erik C.
- Ellison, Jay W.
- Rosenfeld, Jill A.
- Ballif, Blake C.
- Shaffer, Lisa G.
- Demmer, Laurie A.
- Rudd, M. Katharine
2013
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Birth defects research. A Clinical and molecular teratology, 2012-10, Vol.94 (10), p.756-761
2012
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Prenatal diagnosis, 2009-07, Vol.29 (7), p.682-690
2009
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Annual review of genomics and human genetics, 2014-01, Vol.15 (1), p.507-516
2014
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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- Moreno-De-Luca, Daniel
- Mulle, Jennifer G.
- Kaminsky, Erin B.
- Sanders, Stephan J.
- Myers, Scott M.
- Adam, Margaret P.
- Pakula, Amy T.
- Eisenhauer, Nancy J.
- Uhas, Kim
- Weik, LuAnn
- Guy, Lisa
- Care, Melanie E.
- Morel, Chantal F.
- Boni, Charlotte
- Salbert, Bonnie Anne
- Chandrareddy, Ashadeep
- Demmer, Laurie A.
- Chow, Eva W.C.
- Surti, Urvashi
- Aradhya, Swaroop
- Pickering, Diane L.
- Golden, Denae M.
- Sanger, Warren G.
- Aston, Emily
- Brothman, Arthur R.
- Gliem, Troy J.
- Thorland, Erik C.
- Ackley, Todd
- Iyer, Ram
- Huang, Shuwen
- Barber, John C.
- Crolla, John A.
- Warren, Stephen T.
- Martin, Christa L.
- Ledbetter, David H.
2010
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Pediatrics (Evanston), 2010-04, Vol.125 (4), p.e727
- Shen, Yiping
- Dies, Kira A
- Holm, Ingrid A
- Bridgemohan, Carolyn
- Sobeih, Magdi M
- Caronna, Elizabeth B
- Miller, Karen J
- Frazier, Jean A
- Silverstein, Iris
- Picker, Jonathan
- Weissman, Laura
- Raffalli, Peter
- Jeste, Shafali
- Demmer, Laurie A
- Peters, Heather K
- Brewster, Stephanie J
- Kowalczyk, Sara J
- Rosen-Sheidley, Beth
- McGowan, Caroline
- Duda, 3rd, Andrew W
- Lincoln, Sharyn A
- Lowe, Kathryn R
- Schonwald, Alison
- Robbins, Michael
- Hisama, Fuki
- Wolff, Robert
- Becker, Ronald
- Nasir, Ramzi
- Urion, David K
- Milunsky, Jeff M
- Rappaport, Leonard
- Gusella, James F
- Walsh, Christopher A
- Wu, Bai-Lin
- Miller, David T
2010
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American journal of human genetics, 2019-02, Vol.104 (2), p.203-212
- Platzer, Konrad
- Sticht, Heinrich
- Edwards, Stacey L.
- Allen, William
- Angione, Kaitlin M.
- Bonati, Maria T.
- Brasington, Campbell
- Cho, Megan T.
- Demmer, Laurie A.
- Falik-Zaccai, Tzipora
- Gamble, Candace N.
- Hellenbroich, Yorck
- Iascone, Maria
- Kok, Fernando
- Mahida, Sonal
- Mandel, Hanna
- Marquardt, Thorsten
- McWalter, Kirsty
- Panis, Bianca
- Pepler, Alexander
- Pinz, Hailey
- Ramos, Luiza
- Shinde, Deepali N.
- Smith-Hicks, Constance
- Stegmann, Alexander P.A.
- Stöbe, Petra
- Stumpel, Constance T.R.M.
- Wilson, Carolyn
- Lemke, Johannes R.
- Di Donato, Nataliya
- Miller, Kenneth G.
- Jamra, Rami
2019
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Human mutation, 2012-06, Vol.33 (6), p.949-959
- Böhm, Johann
- Biancalana, Valérie
- DeChene, Elizabeth T.
- Bitoun, Marc
- Pierson, Christopher R.
- Schaefer, Elise
- Karasoy, Hatice
- Dempsey, Melissa A.
- Klein, Fabrice
- Dondaine, Nicolas
- Kretz, Christine
- Haumesser, Nicolas
- Poirson, Claire
- Toussaint, Anne
- Greenleaf, Rebecca S.
- Barger, Melissa A.
- Mahoney, Lane J.
- Kang, Peter B.
- Zanoteli, Edmar
- Vissing, John
- Witting, Nanna
- Echaniz-Laguna, Andoni
- Wallgren-Pettersson, Carina
- Dowling, James
- Merlini, Luciano
- Oldfors, Anders
- Bomme Ousager, Lilian
- Melki, Judith
- Krause, Amanda
- Jern, Christina
- Oliveira, Acary S. B.
- Petit, Florence
- Jacquette, Aurélia
- Chaussenot, Annabelle
- Mowat, David
- Leheup, Bruno
- Cristofano, Michele
- Poza Aldea, Juan José
- Michel, Fabrice
- Furby, Alain
- Llona, Jose E. Barcena
- Van Coster, Rudy
- Bertini, Enrico
- Urtizberea, Jon Andoni
- Drouin-Garraud, Valérie
- Béroud, Christophe
- Prudhon, Bernard
- Bedford, Melanie
- Mathews, Katherine
- Erby, Lori A. H.
- Smith, Stephen A.
- Roggenbuck, Jennifer
- Crowe, Carol A.
- Brennan Spitale, Allison
- Johal, Sheila C.
- Amato, Anthony A.
- Demmer, Laurie A.
- Jonas, Jessica
- Darras, Basil T.
- Bird, Thomas D.
- Laurino, Mercy
- Welt, Selman I.
- Trotter, Cynthia
- Guicheney, Pascale
- Das, Soma
- Mandel, Jean-Louis
- Beggs, Alan H.
- Laporte, Jocelyn
2012
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Genetics in medicine, 2015-05, Vol.17 (5), p.386-390
2015
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Human mutation, 2016-07, Vol.37 (7), p.653-660
- Ng, Bobby G.
- Shiryaev, Sergey A.
- Rymen, Daisy
- Eklund, Erik A.
- Raymond, Kimiyo
- Kircher, Martin
- Abdenur, Jose E.
- Alehan, Fusun
- Midro, Alina T.
- Bamshad, Michael J.
- Barone, Rita
- Berry, Gerard T.
- Brumbaugh, Jane E.
- Buckingham, Kati J.
- Clarkson, Katie
- Cole, F. Sessions
- O'Connor, Shawn
- Cooper, Gregory M.
- Van Coster, Rudy
- Demmer, Laurie A.
- Diogo, Luisa
- Fay, Alexander J.
- Ficicioglu, Can
- Fiumara, Agata
- Gahl, William A.
- Ganetzky, Rebecca
- Goel, Himanshu
- Harshman, Lyndsay A.
- He, Miao
- Jaeken, Jaak
- James, Philip M.
- Katz, Daniel
- Keldermans, Liesbeth
- Kibaek, Maria
- Kornberg, Andrew J.
- Lachlan, Katherine
- Lam, Christina
- Yaplito-Lee, Joy
- Nickerson, Deborah A.
- Peters, Heidi L.
- Race, Valerie
- Régal, Luc
- Rush, Jeffrey S.
- Rutledge, S. Lane
- Shendure, Jay
- Souche, Erika
- Sparks, Susan E.
- Trapane, Pamela
- Sanchez-Valle, Amarilis
- Vilain, Eric
- Vøllo, Arve
- Waechter, Charles J.
- Wang, Raymond Y.
- Wolfe, Lynne A.
- Wong, Derek A.
- Wood, Tim
- Yang, Amy C.
- Matthijs, Gert
- Freeze, Hudson H.
2016
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Genetics in medicine, 2017-09, Vol.19 (9), p.1-6
2017
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Genetics in medicine, 2011-01, Vol.13 (1), p.63-66
2011
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American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1132-1136
2013
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American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.432-440
2014
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American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.315-321
2009
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American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.695-703
2006
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The journal of clinical endocrinology and metabolism, 2002-09, Vol.87 (9), p.4069-4071
2002
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Genetics in medicine, 2012-05, Vol.14 (5), p.552-557
2012
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Neurology. Genetics, 2021-12, Vol.7 (6), p.e613-e613
- Johannesen, Katrine M
- Gardella, Elena
- Gjerulfsen, Cathrine E
- Bayat, Allan
- Rouhl, Rob P W
- Reijnders, Margot
- Whalen, Sandra
- Keren, Boris
- Buratti, Julien
- Courtin, Thomas
- Wierenga, Klaas J
- Isidor, Bertrand
- Piton, Amélie
- Faivre, Laurence
- Garde, Aurore
- Moutton, Sébastien
- Tran-Mau-Them, Frédéric
- Denommé-Pichon, Anne-Sophie
- Coubes, Christine
- Larson, Austin
- Esser, Michael J
- Appendino, Juan Pablo
- Al-Hertani, Walla
- Gamboni, Beatriz
- Mampel, Alejandra
- Mayorga, Lía
- Orsini, Alessandro
- Bonuccelli, Alice
- Suppiej, Agnese
- Van-Gils, Julien
- Vogt, Julie
- Damioli, Simona
- Giordano, Lucio
- Moortgat, Stephanie
- Wirrell, Elaine
- Hicks, Sarah
- Kini, Usha
- Noble, Nathan
- Stewart, Helen
- Asakar, Shailesh
- Cohen, Julie S
- Naidu, SakkuBai R
- Collier, Ashley
- Brilstra, Eva H
- Li, Mindy H
- Brew, Casey
- Bigoni, Stefania
- Ognibene, Davide
- Ballardini, Elisa
- Faggioli, Raffaella
- Afenjar, Alexandra
- Rodriguez, Diana
- Bick, David
- Segal, Devorah
- Coman, David
- Gunning, Boudewijn
- Devinsky, Orrin
- Demmer, Laurie A
- Grebe, Theresa
- Cursio, Ida
- Greenhalgh, Lynn
- Graziano, Claudio
- Cantalupo, Gaetano
- Willems, Marjolaine
- Yoganathan, Sangeetha
- Góes, Fernanda
- Leventer, Richard J
- Colavito, Davide
- Olivotto, Sara
- Scelsa, Barbara
- Andrade, Andrea V
- Ratke, Kelly
- Tokarz, Farha
- Khan, Atiya S
- Ormieres, Clothilde
- Benko, William
- Keough, Karen
- Keros, Sotirios
- Hussain, Shanawaz
- Franques, Ashlea
- Varsalone, Felicia
- Grønborg, Sabine
- Mignot, Cyril
- Heron, Delphine
- Nava, Caroline
- Isapof, Arnaud
- Borlot, Felippe
- Whitney, Robyn
- Ronan, Anne
- Somorai, Marta
- Helbig, Katherine L
- Helbig, Ingo
- Ortiz-González, Xilma R
- Dubbs, Holly
- Vitobello, Antonio
- Anderson, Mel
- Spadafore, Dominic
- Hunt, David
- Møller, Rikke S
- Rubboli, Guido
2021
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Human mutation, 2016-07, Vol.37 (7), p.653-660
- Ng, Bobby G.
- Shiryaev, Sergey A.
- Rymen, Daisy
- Eklund, Erik A.
- Raymond, Kimiyo
- Kircher, Martin
- Abdenur, Jose E.
- Alehan, Fusun
- Midro, Alina T.
- Bamshad, Michael J.
- Barone, Rita
- Berry, Gerard T.
- Brumbaugh, Jane E.
- Buckingham, Kati J.
- Clarkson, Katie
- Cole, F. Sessions
- O'Connor, Shawn
- Cooper, Gregory M.
- Van Coster, Rudy
- Demmer, Laurie A.
- Diogo, Luisa
- Fay, Alexander J.
- Ficicioglu, Can
- Fiumara, Agata
- Gahl, William A.
- Ganetzky, Rebecca
- Goel, Himanshu
- Harshman, Lyndsay A.
- He, Miao
- Jaeken, Jaak
- James, Philip M.
- Katz, Daniel
- Keldermans, Liesbeth
- Kibaek, Maria
- Kornberg, Andrew J.
- Lachlan, Katherine
- Lam, Christina
- Yaplito-Lee, Joy
- Nickerson, Deborah A.
- Peters, Heidi L.
- Race, Valerie
- Régal, Luc
- Rush, Jeffrey S.
- Rutledge, S. Lane
- Shendure, Jay
- Souche, Erika
- Sparks, Susan E.
- Trapane, Pamela
- Sanchez-Valle, Amarilis
- Vilain, Eric
- Vøllo, Arve
- Waechter, Charles J.
- Wang, Raymond Y.
- Wolfe, Lynne A.
- Wong, Derek A.
- Wood, Tim
- Yang, Amy C.
- Matthijs, Gert
- Freeze, Hudson H.
2016
Volltextzugriff (PDF)
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- Moreno-De-Luca, Daniel
- Mulle, Jennifer G.
- Kaminsky, Erin B.
- Sanders, Stephan J.
- Myers, Scott M.
- Adam, Margaret P.
- Pakula, Amy T.
- Eisenhauer, Nancy J.
- Uhas, Kim
- Weik, LuAnn
- Guy, Lisa
- Care, Melanie E.
- Morel, Chantal F.
- Boni, Charlotte
- Salbert, Bonnie Anne
- Chandrareddy, Ashadeep
- Demmer, Laurie A.
- Chow, Eva W.C.
- Surti, Urvashi
- Aradhya, Swaroop
- Pickering, Diane L.
- Golden, Denae M.
- Sanger, Warren G.
- Aston, Emily
- Brothman, Arthur R.
- Gliem, Troy J.
- Thorland, Erik C.
- Ackley, Todd
- Iyer, Ram
- Huang, Shuwen
- Barber, John C.
- Crolla, John A.
- Warren, Stephen T.
- Martin, Christa L.
- Ledbetter, David H.
2011
Volltextzugriff (PDF)
American journal of human genetics, 2010, Vol.87 (5), p.618-630
- MORENO-DE-LUCA, Daniel
- CONSORTIUM, Sgene
- UHAS, Kim
- WEIK, Luann
- GUY, Lisa
- CARE, Melanie E
- MOREL, Chantal F
- BONI, Charlotte
- SALBERT, Bonnie Anne
- CHANDRAREDDY, Ashadeep
- DEMMER, Laurie A
- CHOW, Eva W. C
- MULLE, Jennifer G
- SURTI, Urvashi
- ARADHYA, Swaroop
- PICKERING, Diane L
- GOLDEN, Denae M
- SANDER, Warren G
- ASTON, Emily
- BROTHMAN, Arthur R
- GLIEM, Troy J
- THORLAND, Erik C
- ACKLEY, Todd
- KAMINSKY, Erin B
- IYER, Ram
- SHUWEN HUANG
- BARBER, John C
- CROLLA, John A
- WARREN, Stephen T
- MARTIN, Christa L
- LEDBETTER, David H
- SANDERS, Stephan J
- STAR, Gene
- MYERS, Scott M
- ADAM, Margaret P
- PAKULA, Amy T
- EISENHAUER, Nancy J
2010
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