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Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8 -Related Foveal Hypoplasia
2021
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Molecular therapy. Nucleic acids, 2020-09, Vol.21, p.412-427
- Khan, Mubeen
- Arno, Gavin
- Fakin, Ana
- Parfitt, David A.
- Dhooge, Patty P.A.
- Albert, Silvia
- Bax, Nathalie M.
- Duijkers, Lonneke
- Niblock, Michael
- Hau, Kwan L.
- Bloch, Edward
- Schiff, Elena R.
- Piccolo, Davide
- Hogden, Michael C.
- Hoyng, Carel B.
- Webster, Andrew R.
- Cremers, Frans P.M.
- Cheetham, Michael E.
- Garanto, Alejandro
- Collin, Rob W.J.
2020
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Nature communications, 2023-04, Vol.14 (1), p.2256-2256, Article 2256
- Wu, Yiming
- Gettler, Kyle
- Kars, Meltem Ece
- Giri, Mamta
- Li, Dalin
- Bayrak, Cigdem Sevim
- Zhang, Peng
- Jain, Aayushee
- Maffucci, Patrick
- Sabic, Ksenija
- Van Vleck, Tielman
- Nadkarni, Girish
- Denson, Lee A
- Ostrer, Harry
- Levine, Adam P
- Schiff, Elena R
- Segal, Anthony W
- Kugathasan, Subra
- Stenson, Peter D
- Cooper, David N
- Philip Schumm, L
- Snapper, Scott
- Daly, Mark J
- Haritunians, Talin
- Duerr, Richard H
- Silverberg, Mark S
- Rioux, John D
- Brant, Steven R
- McGovern, Dermot P B
- Cho, Judy H
- Itan, Yuval
2023
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Science translational medicine, 2018-01, Vol.10 (423)
- Hui, Ken Y
- Fernandez-Hernandez, Heriberto
- Hu, Jianzhong
- Schaffner, Adam
- Pankratz, Nathan
- Hsu, Nai-Yun
- Chuang, Ling-Shiang
- Carmi, Shai
- Villaverde, Nicole
- Li, Xianting
- Rivas, Manual
- Levine, Adam P
- Bao, Xiuliang
- Labrias, Philippe R
- Haritunians, Talin
- Ruane, Darren
- Gettler, Kyle
- Chen, Ernie
- Li, Dalin
- Schiff, Elena R
- Pontikos, Nikolas
- Barzilai, Nir
- Brant, Steven R
- Bressman, Susan
- Cheifetz, Adam S
- Clark, Lorraine N
- Daly, Mark J
- Desnick, Robert J
- Duerr, Richard H
- Katz, Seymour
- Lencz, Todd
- Myers, Richard H
- Ostrer, Harry
- Ozelius, Laurie
- Payami, Haydeh
- Peter, Yakov
- Rioux, John D
- Segal, Anthony W
- Scott, William K
- Silverberg, Mark S
- Vance, Jeffery M
- Ubarretxena-Belandia, Iban
- Foroud, Tatiana
- Atzmon, Gil
- Pe'er, Itsik
- Ioannou, Yiannis
- McGovern, Dermot P B
- Yue, Zhenyu
- Schadt, Eric E
- Cho, Judy H
- Peter, Inga
2018
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Investigative ophthalmology & visual science, 2022-08, Vol.63 (9), p.14-14
2022
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Gastroenterology (New York, N.Y. 1943), 2016-10, Vol.151 (4), p.698-709
2016
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Human molecular genetics, 2016-12, Vol.25 (24), p.5483-5489
- Lubbe, Steven J
- Escott-Price, Valentina
- Gibbs, J Raphael
- Nalls, Mike A
- Bras, Jose
- Price, T Ryan
- Nicolas, Aude
- Jansen, Iris E
- Mok, Kin Y
- Pittman, Alan M
- Tomkins, James E
- Lewis, Patrick A
- Noyce, Alastair J
- Lesage, Suzanne
- Sharma, Manu
- Schiff, Elena R
- Levine, Adam P
- Brice, Alexis
- Gasser, Thomas
- Hardy, John
- Heutink, Peter
- Wood, Nicholas W
- Singleton, Andrew B
- Williams, Nigel M
- Morris, Huw R
2016
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American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.631-643
2020
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Ophthalmic genetics, 2022-09, Vol.43 (5), p.1-678
2022
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Digestive diseases and sciences, 2018-11, Vol.63 (11), p.3049-3057
2018
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Ophthalmic genetics, 2021-12, Vol.42 (6), p.664-673
- Igelman, Austin D
- Ku, Cristy
- da Palma, Mariana Matioli
- Georgiou, Michalis
- Schiff, Elena R
- Lam, Byron L
- Sankila, Eeva-Marja
- Ahn, Jeeyun
- Pyers, Lindsey
- Vincent, Ajoy
- Ferraz Sallum, Juliana Maria
- Zein, Wadih M
- Oh, Jin Kyun
- Maldonado, Ramiro S
- Ryu, Joseph
- Tsang, Stephen H
- Gorin, Michael B
- Webster, Andrew R
- Michaelides, Michel
- Yang, Paul
- Pennesi, Mark E
2021
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Gastroenterology report, 2021-12, Vol.9 (6), p.521-532
2021
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F1000 research, 2018, Vol.7, p.281
2018
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Nature genetics, 2022-09, Vol.54 (9), p.1275-1283
- Sazonovs, Aleksejs
- Stevens, Christine R
- Venkataraman, Guhan R
- Yuan, Kai
- Avila, Brandon
- Ahmad, Tariq
- Ananthakrishnan, Ashwin N
- Atzmon, Gil
- Baras, Aris
- Barrett, Jeffrey C
- Barzilai, Nir
- Beaugerie, Laurent
- Bernstein, Charles N
- Bitton, Alain
- Bokemeyer, Bernd
- Cosnes, Jacques
- Cutler, David J
- Daly, Allan
- Damas, Oriana M
- Devoto, Marcella
- Ellinghaus, Eva
- Farkkila, Martti
- Ferreira, Manuel
- Franchimont, Denis
- Ge, Tian
- Georges, Michel
- Giri, Mamta
- Glaser, Benjamin
- Goyette, Philippe
- Graham, Daniel
- Hämäläinen, Eija
- Haritunians, Talin
- Heap, Graham A
- Hiltunen, Mikko
- Hoeppner, Marc
- Horowitz, Julie E
- Irving, Peter
- Iyer, Vivek
- Jalas, Chaim
- Kelsen, Judith
- Khalili, Hamed
- Kirschner, Barbara S
- Kontula, Kimmo
- Kugathasan, Subra
- Kupcinskas, Juozas
- Lamb, Christopher A
- Laudes, Matthias
- Lévesque, Chloé
- Levine, Adam P
- Lewis, James D
- Liefferinckx, Claire
- Loescher, Britt-Sabina
- Louis, Edouard
- Mansfield, John
- McCauley, Jacob L
- Mengesha, Emebet
- Moran, Christopher J
- O'Charoen, Sirimon
- Oldenburg, Bas
- Ostrer, Harry
- Palotie, Aarno
- Paquette, Jean
- Pekow, Joel
- Peter, Inga
- Ponsioen, Cyriel Y
- Prescott, Natalie
- Pulver, Ann E
- Rahmouni, Souad
- Saavalainen, Päivi
- Sands, Bruce
- Sartor, R Balfour
- Schiff, Elena R
- Schreiber, Stefan
- Segal, Anthony W
- Seksik, Philippe
- Silverberg, Mark S
- Simmons, Alison
- Skeiceviciene, Jurgita
- Solomonson, Matthew
- Somineni, Hari
- Turner, Dan
- Uhlig, Holm H
- van der Meulen, Andrea E
- Vermeire, Séverine
- Verstockt, Sare
- Winter, Harland S
- Young, Justine
- Duerr, Richard H
- Franke, Andre
- Brant, Steven R
- Cho, Judy
- Weersma, Rinse K
- Parkes, Miles
- Xavier, Ramnik J
- Rivas, Manuel A
- Rioux, John D
- McGovern, Dermot P B
- Huang, Hailiang
- Anderson, Carl A
- Daly, Mark J
2022
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Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595
- Chrystal, Paul W
- Lambacher, Nils J
- Doucette, Lance P
- Bellingham, James
- Schiff, Elena R
- Noel, Nicole C L
- Li, Chunmei
- Tsiropoulou, Sofia
- Casey, Geoffrey A
- Zhai, Yi
- Nadolski, Nathan J
- Majumder, Mohammed H
- Tagoe, Julia
- D'Esposito, Fabiana
- Cordeiro, Maria Francesca
- Downes, Susan
- Clayton-Smith, Jill
- Ellingford, Jamie
- Mahroo, Omar A
- Hocking, Jennifer C
- Cheetham, Michael E
- Webster, Andrew R
- Jansen, Gert
- Blacque, Oliver E
- Allison, W Ted
- Au, Ping Yee Billie
- MacDonald, Ian M
- Arno, Gavin
- Leroux, Michel R
2022
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Gastroenterology (New York, N.Y. 1943), 2016-10, Vol.151 (4), p.710-723.e2
- Chuang, Ling-Shiang
- Villaverde, Nicole
- Hui, Ken Y
- Mortha, Arthur
- Rahman, Adeeb
- Levine, Adam P
- Haritunians, Talin
- Evelyn Ng, Sok Meng
- Zhang, Wei
- Hsu, Nai-Yun
- Facey, Jody-Ann
- Luong, Tramy
- Fernandez-Hernandez, Heriberto
- Li, Dalin
- Rivas, Manuel
- Schiff, Elena R
- Gusev, Alexander
- Schumm, L. Phillip
- Bowen, Beatrice M
- Sharma, Yashoda
- Ning, Kaida
- Remark, Romain
- Gnjatic, Sacha
- Legnani, Peter
- George, James
- Sands, Bruce E
- Stempak, Joanne M
- Datta, Lisa W
- Lipka, Seth
- Katz, Seymour
- Cheifetz, Adam S
- Barzilai, Nir
- Pontikos, Nikolas
- Abraham, Clara
- Dubinsky, Marla J
- Targan, Stephan
- Taylor, Kent
- Rotter, Jerome I
- Scherl, Ellen J
- Desnick, Robert J
- Abreu, Maria T
- Zhao, Hongyu
- Atzmon, Gil
- Pe’er, Itsik
- Kugathasan, Subra
- Hakonarson, Hakon
- McCauley, Jacob L
- Lencz, Todd
- Darvasi, Ariel
- Plagnol, Vincent
- Silverberg, Mark S
- Muise, Aleixo M
- Brant, Steven R
- Daly, Mark J
- Segal, Anthony W
- Duerr, Richard H
- Merad, Miriam
- McGovern, Dermot P.B
- Peter, Inga
- Cho, Judy H
2016
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Gastroenterology (New York, N.Y. 1943), 2016-07, Vol.151 (4), p.710-723.e2
- Chuang, Ling-Shiang
- Villaverde, Nicole
- Hui, Ken Y.
- Mortha, Arthur
- Rahman, Adeeb
- Levine, Adam P.
- Haritunians, Talin
- Evelyn Ng, Sok Meng
- Zhang, Wei
- Hsu, Nai-Yun
- Facey, Jody-Ann
- Luong, Tramy
- Fernandez-Hernandez, Heriberto
- Li, Dalin
- Rivas, Manuel
- Schiff, Elena R.
- Gusev, Alexander
- Schumm, L. Phillip
- Bowen, Beatrice M.
- Sharma, Yashoda
- Ning, Kaida
- Remark, Romain
- Gnjatic, Sacha
- Legnani, Peter
- George, James
- Sands, Bruce E.
- Stempak, Joanne M.
- Datta, Lisa W.
- Lipka, Seth
- Katz, Seymour
- Cheifetz, Adam S.
- Barzilai, Nir
- Pontikos, Nikolas
- Abraham, Clara
- Dubinsky, Marla J.
- Targan, Stephan
- Taylor, Kent
- Rotter, Jerome I
- Scherl, Ellen J.
- Desnick, Robert J.
- Abreu, Maria T.
- Zhao, Hongyu
- Atzmon, Gil
- Pe’er, Itsik
- Kugathasan, Subra
- Hakonarson, Hakon
- McCauley, Jacob L.
- Lencz, Todd
- Darvasi, Ariel
- Plagnol, Vincent
- Silverberg, Mark S.
- Muise, Aleixo M.
- Brant, Steven R.
- Daly, Mark J.
- Segal, Anthony W.
- Duerr, Richard H.
- Merad, Miriam
- McGovern, Dermot P.B.
- Peter, Inga
- Cho, Judy H.
2016
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Ophthalmic Genetics, 2022, Vol.43 (5), p.671-678
2022
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Ophthalmic Genetics, 2021, Vol.42 (6), p.664-673
- Igelman, Austin D.
- Ku, Cristy
- da Palma, Mariana Matioli
- Georgiou, Michalis
- Schiff, Elena R.
- Lam, Byron L.
- Sankila, Eeva-Marja
- Ahn, Jeeyun
- Pyers, Lindsey
- Vincent, Ajoy
- Ferraz Sallum, Juliana Maria
- Zein, Wadih M.
- Oh, Jin Kyun
- Maldonado, Ramiro S.
- Ryu, Joseph
- Tsang, Stephen H.
- Gorin, Michael B.
- Webster, Andrew R.
- Michaelides, Michel
- Yang, Paul
- Pennesi, Mark E.
2021
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Ophthalmology (Rochester, Minn.), 2020-10, Vol.127 (10), p.1384-1394
2020
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The Lancet (British edition), 2022-12, Vol.400 (10369), p.2199-2209
- Cleland, John G F
- Petrie, Mark C
- Thomson, Elizabeth A
- Kalra, Philip A
- Cowburn, Peter J
- Graham, Fraser J
- Japp, Alan G
- Macdougall, Iain C
- Ray, Robin
- Robertson, Michele
- Seed, Alison
- Ford, Ian
- Squire, Iain B
- Ahmed, Fozia Z
- Al-Mohammad, Abdallah
- Lane, Rebecca E
- Lang, Ninian N
- Ludman, Andrew J
- Pellicori, Pierpaolo
- Mindham, Richard
- Strom, Claes C
- Travers, Maureen
- Mark, Patrick
- Cowan, Elena
- Turner, Charlotte
- Austin, Rosalynn
- Rogers, Paula
- Kyeremeh, Lynsey
- McGregor, Lorraine
- Fisher, Jude
- Summersgill, Christina
- Massimo, Lisa
- Hardman, Clare
- Sykes, Daisy
- Sookhoo, Vennessa
- Lyons, Sinead
- Middle, Janet
- Clark, Andrew
- Bulemfu, Jeanne
- Critoph, Christopher
- Wood, Stephen
- Szwejkowski, Benjamin
- Lang, Chim
- Schiff, Rebekah
- Kunhunny, Swapna
- Gardner, Roy
- McAdam, Marion
- McPherson, Elizabeth
- Sear, Eleanor
- Edwards, Nigel
- Glover, Jason
- Murphy, Clare
- Cooke, Justin
- Spencer, Charles
- Large, Janet
- Stratford, Jenny
- Jones, Deborah
- Williams, Rhys
- Hannah, Andrew
- Campbell, Philip
- Walsh, John
- Gupta, Preeti
- Sim, Victor
- Dixon, Lana
- Petrie, Colin
- Wong, Yuk-ki
- Labinjoh, Catherine
- Duckett, Simon
- Savage, Henry
- Manisty, Charlotte
- Hussain, Ifza
- Davis, Gershan
- McClure, Samuel
- Baxter, John
- Wicks, Eleanor
- Cooke, Alastair
- Wright, Jay
- Muthumala, Amal
- Webber, Sue
- Welch, Mandie
- Bulugahapitiya, Sudantha
- Jackson, Thomas
- Pakrashi, Tapesh
- Krishnamurthy, Vinodh
- Nightingale, Angus
- Greenlaw, Nicola
- Wetherall, Kirsty
- Stevenson, Alan
- Woollard, Joanne
- Douglas, Elizabeth
- Ross, Barbara
- Surtees, Pamela
- Stuart, Debra
2022
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Investigative ophthalmology & visual science, 2024-02, Vol.65 (2), p.38-38
2024
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Investigative ophthalmology & visual science, 2024-05, Vol.65 (5), p.9-9
2024
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Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2016
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