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The Lancet (British edition), 2019-02, Vol.393 (10173), p.758-767
- Petrovski, Slavé
- Aggarwal, Vimla
- Giordano, Jessica L
- Stosic, Melissa
- Wou, Karen
- Bier, Louise
- Spiegel, Erica
- Brennan, Kelly
- Stong, Nicholas
- Jobanputra, Vaidehi
- Ren, Zhong
- Zhu, Xiaolin
- Mebane, Caroline
- Nahum, Odelia
- Wang, Quanli
- Kamalakaran, Sitharthan
- Malone, Colin
- Anyane-Yeboa, Kwame
- Miller, Russell
- Levy, Brynn
- Goldstein, David B
- Wapner, Ronald J
2019
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Annals of internal medicine, 2019-01, Vol.170 (1), p.11
2019
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Developmental medicine and child neurology, 2021-12, Vol.63 (12), p.1448-1455
2021
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Genetics in Medicine Open, 2024, Vol.2, p.101745, Article 101745
2024
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Frontiers in physiology, 2020-09, Vol.11, p.1040
2020
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Epilepsia (Copenhagen), 2022-02, Vol.63 (2), p.375-387
2022
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Journal of the American Medical Informatics Association : JAMIA, 2024-07
2024
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Genetics in medicine, 2013-02, Vol.15 (2), p.146-149
2013
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Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
2014
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Developmental medicine and child neurology, 2021-06, Vol.63 (12), p.1448-1455
2021
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Nature genetics, 2021-07, Vol.53 (7), p.1006-1021
- Cousin, Margot A
- Creighton, Blake A
- Breau, Keith A
- Spillmann, Rebecca C
- Torti, Erin
- Dontu, Sruthi
- Tripathi, Swarnendu
- Ajit, Deepa
- Edwards, Reginald J
- Afriyie, Simone
- Bay, Julia C
- Harper, Kathryn M
- Beltran, Alvaro A
- Munoz, Lorena J
- Falcon Rodriguez, Liset
- Stankewich, Michael C
- Person, Richard E
- Si, Yue
- Normand, Elizabeth A
- Blevins, Amy
- May, Alison S
- Bier, Louise
- Aggarwal, Vimla
- Mancini, Grazia M S
- van Slegtenhorst, Marjon A
- Cremer, Kirsten
- Becker, Jessica
- Engels, Hartmut
- Aretz, Stefan
- MacKenzie, Jennifer J
- Brilstra, Eva
- van Gassen, Koen L I
- van Jaarsveld, Richard H
- Oegema, Renske
- Parsons, Gretchen M
- Mark, Paul
- Helbig, Ingo
- McKeown, Sarah E
- Stratton, Robert
- Cogne, Benjamin
- Isidor, Bertrand
- Cacheiro, Pilar
- Smedley, Damian
- Firth, Helen V
- Bierhals, Tatjana
- Kloth, Katja
- Weiss, Deike
- Fairley, Cecilia
- Shieh, Joseph T
- Kritzer, Amy
- Jayakar, Parul
- Kurtz-Nelson, Evangeline
- Bernier, Raphael A
- Wang, Tianyun
- Eichler, Evan E
- van de Laar, Ingrid M B H
- McConkie-Rosell, Allyn
- McDonald, Marie T
- Kemppainen, Jennifer
- Lanpher, Brendan C
- Schultz-Rogers, Laura E
- Gunderson, Lauren B
- Pichurin, Pavel N
- Yoon, Grace
- Zech, Michael
- Jech, Robert
- Winkelmann, Juliane
- Beltran, Adriana S
- Zimmermann, Michael T
- Temple, Brenda
- Moy, Sheryl S
- Klee, Eric W
- Tan, Queenie K-G
- Lorenzo, Damaris N
2021
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American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010
- Petrovski, Slavé
- Küry, Sébastien
- Myers, Candace T.
- Anyane-Yeboa, Kwame
- Cogné, Benjamin
- Bialer, Martin
- Xia, Fan
- Hemati, Parisa
- Riviello, James
- Mehaffey, Michele
- Besnard, Thomas
- Becraft, Emily
- Wadley, Alexandrea
- Politi, Anya Revah
- Colombo, Sophie
- Zhu, Xiaolin
- Ren, Zhong
- Andrews, Ian
- Dudding-Byth, Tracy
- Schneider, Amy L.
- Wallace, Geoffrey
- Rosen, Aaron B.I.
- Schelley, Susan
- Enns, Gregory M.
- Corre, Pierre
- Dalton, Joline
- Mercier, Sandra
- Latypova, Xénia
- Schmitt, Sébastien
- Guzman, Edwin
- Moore, Christine
- Bier, Louise
- Heinzen, Erin L.
- Karachunski, Peter
- Shur, Natasha
- Grebe, Theresa
- Basinger, Alice
- Nguyen, Joanne M.
- Bézieau, Stéphane
- Wierenga, Klaas
- Bernstein, Jonathan A.
- Scheffer, Ingrid E.
- Rosenfeld, Jill A.
- Mefford, Heather C.
- Isidor, Bertrand
- Goldstein, David B.
2016
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Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.797-806
- Berkovic, Samuel F.
- Goldstein, David B.
- Heinzen, Erin L.
- Laughlin, Brandon L.
- Lowenstein, Daniel H.
- Lubbers, Laura
- Stewart, Randall
- Whittemore, Vicky
- Angione, Kaitlin
- Bazil, Carl W.
- Bier, Louise
- Bluvstein, Judith
- Brimble, Elise
- Campbell, Colleen
- Cavalleri, Gianpiero
- Chambers, Chelsea
- Choi, Hyunmi
- Cilio, Maria Roberta
- Ciliberto, Michael
- Cornes, Susannah
- Delanty, Norman
- Demarest, Scott
- Devinsky, Orrin
- Dlugos, Dennis
- Dubbs, Holly
- Dugan, Patricia
- Ernst, Michelle E.
- Gibbons, Melissa
- Goodkin, Howard P.
- Helbig, Ingo
- Jansen, Laura
- Johnson, Kaleas
- Joshi, Charuta
- Lippa, Natalie C.
- Marsh, Eric
- Martinez, Alejandro
- Millichap, John
- Mulhern, Maureen S.
- Numis, Adam
- Park, Kristen
- Pippucci, Tommaso
- Poduri, Annapurna
- Porter, Brenda
- Regan, Brigid
- Sands, Tristan T.
- Scheffer, Ingrid E.
- Schreiber, John M.
- Sheidley, Beth
- Singhal, Nilika
- Smith, Lacey
- Sullivan, Joseph
- Taylor, Alan
- Tolete, Patricia
- Afgani, Tahseen M.
- Aggarwal, Vimla
- Burgess, Rosemary
- Dixon‐Salazar, Tracy
- Hemati, Parisa
- Milder, Julie
- Petrovski, Slavé
- Revah‐Politi, Anya
- Stong, Nicholas
2019
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Journal of genetic counseling, 2018-06, Vol.27 (3), p.675-680
2018
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Genetics in medicine, 2022-03, Vol.24 (3), p.S272-S273
2022
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PloS one, 2022-09, Vol.17 (9), p.e0272522-e0272522
- Aschebrook-Kilfoy, Briseis
- Zakin, Paul
- Craver, Andrew
- Shah, Sameep
- Kibriya, Muhammad G
- Stepniak, Elizabeth
- Ramirez, Andrea
- Clark, Cheryl
- Cohn, Elizabeth
- Ohno-Machado, Lucila
- Cicek, Mine
- Boerwinkle, Eric
- Schully, Sheri D
- Mockrin, Stephen
- Gebo, Kelly
- Mayo, Kelsey
- Ratsimbazafy, Francis
- Sanders, Alan
- Shah, Raj C
- Argos, Maria
- Ho, Joyce
- Kim, Karen
- Daviglus, Martha
- Greenland, Philip
- Ahsan, Habibul
- Galli, Alvaro
2022
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American journal of obstetrics and gynecology, 2017-01, Vol.216 (1), p.S5-S6
2017
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Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
- Franceschini, Nora
- Feldman, David L.
- Berg, Jonathan S.
- Besse, Whitney
- Chang, Alexander R.
- Dahl, Neera K.
- Gbadegesin, Rasheed
- Pollak, Martin R.
- Rasouly, Hila Milo
- Smith, Richard J.H.
- Winkler, Cheryl A.
- Gharavi, Ali
- Ars, Elisabet
- Bekheirnia, Mir Reza
- Bier, Louise
- Bleyer, Anthony J.
- Fuller, Lindsey J.
- Halbritter, Jan
- Harris, Peter C.
- Kiryluk, Krzysztof
- Knoers, Nine VAM
- Kopp, Jeffrey B.
- Kramer, Holly
- Lagas, Sharon S.
- Lieske, John C.
- Lu, Weining
- Mannon, Roslyn B.
- Markowitz, Glen
- Moe, Orson W.
- Nadkarni, Girish N.
- Nast, Cynthia C.
- Parekh, Rulan S.
- Pei, York
- Reed, Katie
- Rehm, Heidi L.
- Richards, Denay J.
- Roberts, Mary-Beth
- Sabatello, Maya
- Salant, David J.
- Sampson, Matthew G.
- Sanna-Cherchi, Simone
- Santoriello, Dominick
- Sedor, John R.
- Sneddon, Tam P.
- Watnick, Terry
- Wilfond, Benjamin S.
- Williams, Winfred W.
- Wong, Craig S.
2024
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Genetics in medicine, 2022-04, Vol.24 (4), p.862-869
2022
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Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.e103-e109
- Ernst, Michelle E.
- Baugh, Evan H.
- Thomas, Amanda
- Bier, Louise
- Lippa, Natalie
- Stong, Nicholas
- Mulhern, Maureen S.
- Kushary, Sulagna
- Akman, Cigdem I.
- Heinzen, Erin L.
- Yeh, Raymond
- Bi, Weimin
- Hanchard, Neil A.
- Burrage, Lindsay C.
- Leduc, Magalie S.
- Chong, Josephine S. C.
- Bend, Renee
- Lyons, Michael J.
- Lee, Jennifer A.
- Suwannarat, Pim
- Brilstra, Eva
- Simon, Marleen
- Koopmans, Marije
- Binsbergen, Ellen
- Groepper, Daniel
- Fleischer, Julie
- Nava, Caroline
- Keren, Boris
- Mignot, Cyril
- Mathieu, Sophie
- Mancini, Grazia M. S.
- Madan‐Khetarpal, Suneeta
- Infante, Elena M.
- Bluvstein, Judith
- Seeley, Andrea
- Bachman, Kristine
- Klee, Eric W.
- Schultz‐Rogers, Laura E.
- Hasadsri, Linda
- Barnett, Sarah
- Ellingson, Marissa S.
- Ferber, Matthew J.
- Narayanan, Vinodh
- Ramsey, Keri
- Rauch, Anita
- Joset, Pascal
- Steindl, Katharina
- Sheehan, Theodore
- Poduri, Annapurna
- Vasquez, Alejandra
- Ruivenkamp, Claudia
- White, Susan M.
- Pais, Lynn
- Monaghan, Kristin G.
- Goldstein, David B.
- Sands, Tristan T.
- Aggarwal, Vimla
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S243
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S243-S243
2021
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Genetics in medicine, 2017-06, Vol.19 (6), p.652-658
2017
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Journal of genetic counseling, 2023-04, Vol.32 (2), p.281-299
2023
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Annals of neurology, 2018-11, Vol.84 (5), p.788-795
- Mulhern, Maureen S.
- Stumpel, Constance
- Stong, Nicholas
- Brunner, Han G.
- Bier, Louise
- Lippa, Natalie
- Riviello, James
- Rouhl, Rob P. W.
- Kempers, Marlies
- Pfundt, Rolph
- Stegmann, Alexander P. A.
- Kukolich, Mary K.
- Telegrafi, Aida
- Lehman, Anna
- Lopez‐Rangel, Elena
- Houcinat, Nada
- Barth, Magalie
- den Hollander, Nicolette
- Hoffer, Mariette J. V.
- Weckhuysen, Sarah
- Roovers, Jolien
- Djemie, Tania
- Barca, Diana
- Ceulemans, Berten
- Craiu, Dana
- Lemke, Johannes R.
- Korff, Christian
- Mefford, Heather C.
- Meyers, Candace T.
- Siegler, Zsuzsanna
- Hiatt, Susan M.
- Cooper, Gregory M.
- Bebin, E. Martina
- Snijders Blok, Lot
- Veenstra‐Knol, Hermine E.
- Baugh, Evan H.
- Brilstra, Eva H.
- Volker‐Touw, Catharina M. L.
- van Binsbergen, Ellen
- Revah‐Politi, Anya
- Pereira, Elaine
- McBrian, Danielle
- Pacault, Mathilde
- Isidor, Bertrand
- Le Caignec, Cedric
- Gilbert‐Dussardier, Brigitte
- Bilan, Frederic
- Heinzen, Erin L.
- Goldstein, David B.
- Stevens, Servi J. C.
- Sands, Tristan T.
2018
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