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The Journal of pediatrics, 2014-09, Vol.165 (3), p.490-496.e8
- Goldberg, Caren S., MD, MS
- Lu, Minmin, MS
- Sleeper, Lynn A., ScD
- Mahle, William T., MD
- Gaynor, J. William, MD
- Williams, Ismee A., MD, MS
- Mussatto, Kathleen A., PhD
- Ohye, Richard G., MD
- Graham, Eric M., MD
- Frank, Deborah U., MD
- Jacobs, Jeffrey P., MD
- Krawczeski, Catherine, MD
- Lambert, Linda, MSN
- Lewis, Alan, MD
- Pemberton, Victoria L., RNC
- Sananes, Renee, PhD
- Sood, Erica, PhD
- Wechsler, Stephanie B., MD
- Bellinger, David C., PhD, MSc
- Newburger, Jane W., MD, MPH
2014
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Journal of vascular surgery, 2010-02, Vol.51 (2), p.468-470
2010
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The American journal of cardiology, 2018-10, Vol.122 (8), p.1429-1436
2018
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The Journal of thoracic and cardiovascular surgery, 2017-11, Vol.154 (5), p.1703-1710.e3
2017
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American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1219-1225
2017
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Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.823-830
2017
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Current genetic medicine reports, 2018-06, Vol.6 (2), p.28-42
2018
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100814, Article 100814
2023
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Journal of inborn errors of metabolism and screening, 2017, Vol.5, p.232640981770777
2017
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Pediatrics (Evanston), 2021-03, Vol.147 (3_MeetingAbstract), p.401-401
2021
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Circulation (New York, N.Y.), 2020-11, Vol.142 (Suppl_3 Suppl 3), p.A16552-A16552
2020
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Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S23
2017
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The Journal of thoracic and cardiovascular surgery, 2017-06, Vol.154 (5), p.1703-1710.e3
2017
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Circulation (New York, N.Y.), 2016-11, Vol.134 (Suppl_1 Suppl 1), p.A16994-A16994
- Hoskoppal, Arvind
- Menon, Shaji
- Trachtenberg, Felicia
- Levine, Jami C
- Selamet Tierney, Elif Seda
- Burns, Kristin M
- De Backer, Julie
- Gelb, Bruce D
- Gleason, Marie
- James, Jeanne
- Lai, Wyman W
- Liou, Aimee
- Mahony, Lynn
- Olson, Aaron K
- Pyeritz, Reed E
- Sharkey, Angela M
- Stylianou, Mario
- Wechsler, Stephanie B
- Young, Luciana
- Lacro, Ronald V
- Bradley, Timothy J
2016
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Lancet neurology, 2012-10, Vol.11 (10), p.860-867
- Lansberg, Maarten G, MD
- Straka, Matus, PhD
- Kemp, Stephanie, BS
- Mlynash, Michael, MD
- Wechsler, Lawrence R, Prof
- Jovin, Tudor G, MD
- Wilder, Michael J, MD
- Lutsep, Helmi L, MD
- Czartoski, Todd J, MD
- Bernstein, Richard A, MD
- Chang, Cherylee WJ, MD
- Warach, Steven, Prof
- Fazekas, Franz, Prof
- Inoue, Manabu, MD
- Tipirneni, Aaryani, MS
- Hamilton, Scott A, PhD
- Zaharchuk, Greg, MD
- Marks, Michael P, Prof
- Bammer, Roland, PhD
- Albers, Gregory W, Prof
2012
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Genetics in medicine, 2010-07, Vol.12 (7), p.446-463
2010
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The New England journal of medicine, 2014-11, Vol.371 (22), p.2061-2071
- Lacro, Ronald V
- Dietz, Harry C
- Sleeper, Lynn A
- Yetman, Anji T
- Bradley, Timothy J
- Colan, Steven D
- Pearson, Gail D
- Selamet Tierney, E. Seda
- Levine, Jami C
- Atz, Andrew M
- Benson, D. Woodrow
- Braverman, Alan C
- Chen, Shan
- De Backer, Julie
- Gelb, Bruce D
- Grossfeld, Paul D
- Klein, Gloria L
- Lai, Wyman W
- Liou, Aimee
- Loeys, Bart L
- Markham, Larry W
- Olson, Aaron K
- Paridon, Stephen M
- Pemberton, Victoria L
- Pierpont, Mary Ella
- Pyeritz, Reed E
- Radojewski, Elizabeth
- Roman, Mary J
- Sharkey, Angela M
- Stylianou, Mario P
- Wechsler, Stephanie Burns
- Young, Luciana T
- Mahony, Lynn
2014
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Journal of the American Heart Association, 2023-09, Vol.12 (18), p.e029340-e029340
2023
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Stroke (1970), 2014-04, Vol.45 (4), p.1018-1023
2014
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Muscle & nerve, 2013-09, Vol.48 (3), p.343-356
2013
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Muscle & nerve, 2013-09, Vol.48 (3), p.357-368
2013
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Neurology, 2015-08, Vol.85 (8), p.708
2015
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The lancet respiratory medicine, 2022-07, Vol.10 (7), p.650-660
- Wechsler, Michael E
- Menzies-Gow, Andrew
- Brightling, Christopher E
- Kuna, Piotr
- Korn, Stephanie
- Welte, Tobias
- Griffiths, Janet M
- Sałapa, Kinga
- Hellqvist, Åsa
- Almqvist, Gun
- Lal, Harbans
- Kaur, Primal
- Skärby, Tor
- Colice, Gene
- Cambursano, Victor H
- Fernandez, Marcelo J
- Scherbovsky, Fernando D
- Yanez, Anahi
- Tolcachier, Alberto J
- Stok, Ana M
- Verra, Fernando J B
- Forster, Karin
- Rolke, Mathias
- Ludwig-Sengpiel, Andrea
- Schmoller, Tibor
- Schmidt, Olaf
- Milger-Kneidinger, Katrin
- Hoffmann, Martin
- Temme, Hilke
- Linnhoff, Anneliese
- Kirschner, Joachim
- Rewerska, Barbara
- Pisarczyk-Bogacka, Ewa
- Haak Lee, Sang
- Jae Lee, Byung
- Park, Heung-Woo
- Park, Jung-Won
- Young Lee, Sook
- Sook Cho, You
- Ho Lee, Kwan
- Bavbek, Sevim
- Gemicioglu, Bilun
- Ediger, Dane
- Koca Kalkan, Ilkay
- Hanta, Ismail
- Yorgancioglu, Arzu
- DytyatkovsKa, Yevgeniya
- Mostovoy, Yuriy M
- Lebed, Kyrylo
- Yakovenko, Oleh
- Bernstein, David I
- Tillinghast, Jeffrey P
- Que, Loretta
- Madison, Jan
- Rambasek, Todd
- Shenoy, Kartik
- Thompson, Charles A
- Chappel, Christopher M
- Hudes, Golda
- Sorial, Ehab
- Kureishy, Shahrukh A
- Rehman, Syed M
- Lugogo, Njira
- Gonzalez, Erika G
- Umeh, Fred C
- Boren, Eric J
- Sigmon, Jason
- Ismail, Hummayun
- Mohan, Arjun
- Bansal, Sandeep
- Kaelin, Thomas D
2022
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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
- Ha, Thoa
- Morgan, Angela
- Bartos, Meghan N
- Beatty, Katelyn
- Cogné, Benjamin
- Braun, Dominique
- Gerber, Céline B
- Gaspar, Harald
- Kopps, Anna M
- Rieubland, Claudine
- Hurst, Anna C E
- Amor, David J
- Nizon, Mathilde
- Pasquier, Laurent
- Pfundt, Rolph
- Reis, André
- Siu, Victoria Mok
- Tessarech, Marine
- Thompson, Michelle L
- Vincent, Marie
- de Vries, Bert B A
- Walsh, Matthew B
- Wechsler, Stephanie Burns
- Zweier, Christiane
- Schnur, Rhonda E
- Guillen Sacoto, Maria J
- Margot, Henri
- Masotto, Barbara
- Palafoll, Maria Irene Valenzuela
- Nawaz, Urwah
- Voineagu, Irina
- Slavotinek, Anne
2024
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The Journal of pediatrics, 2019-01, Vol.204, p.250-255.e1
- Uzark, Karen
- Pemberton, Victoria L.
- Atz, Teresa W.
- Cappella, Elizabeth
- Levine, Jami C.
- Lindauer, Bergen
- Markham, Larry W.
- Morrison, Tonia
- Olson, Aaron K.
- Pierpont, Mary Ella M.
- Pyeritz, Reed E.
- Radojewski, Elizabeth A.
- Roman, Mary J.
- Xu, Mingfen
- Lacro, Ronald V.
- Pearson, Gail
- Stylianou, Mario
- Tennstedt, Sharon
- Colan, Steven
- Klein, Gloria
- Guey, Lin
- Chen, Shan
- Olesker, Tanya
- Teitel, David F.
- King, Martha
- Lai, Wyman
- Paridon, Stephen
- Gleason, Marie
- Mirarchi, Nicole
- DiLullo, Sandra
- Ejembi, Agbenu
- Morgan, Ruth
- Border, William
- Cnota, James
- Hogan, Kathryn
- Barnard, Teresa
- Anderson, Page A.W.
- Wechsler, Stephanie Burns
- Sang, Charles
- Covitz, Wesley
- Crawford, Kari
- Saul, J. Philip
- Forbus, Geoffrey
- Choudhury, Aparna
- Minich, LuAnn
- Williams, Richard
- Shearrow, Marian
- Russell, Jennifer
- Colman, Jack
- Khaikin, Svetlana
- Slater, Nancy
- Dietz, Harry C.
- Sparks, Elisabeth
- MacCarrick, Gretchen
- Leadroot, Jennifer
- Canter, Charles
- Rainey, Cheryl
- Slesnick, Timothy
- Tenende, Tunu
- Liang, David
- Merkel, Elisabeth
- Loeys, Bart
- Cobben, Jan Maarten
- De Paepe, Anne
- Gelb, Bruce
- Srivastava, Shubhika
- Mendiz-Ramdeen, Tejani
- Weismann, Constance
- Lawrence, Emily
- Chin, Stephanie
- Ko, Helen
- Le Yau, Jen
- Webber, Steven
- Drant, Stacey
- Stiegler, Kevin
- Sommers, Sue
- Madison, Carol
- Young, Luciana
- Domenico, Megan
- Waitzman, Kathryn
- Baker, Charles
- Overman, Alison
- Rimoin, David
- Pariani, Mitchel
- Siegel, Robert
- Rafique, Asim
- Grossfeld, Paul
- Smith, Arlene
- McLees-Palinkas, Terri
- Colan, Steven D.
- Rivera, Marga
- Artman, Michael
- Austin, Erle
- Baldwin, H. Scott
- Johnson, Julie
- Klitzner, Thomas
- Matherne, G. Paul
- Galantowicz, Mark
- Knight, Thomas J.
- Taylor, Holly
2019
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