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Human mutation, 2022-06, Vol.43 (6), p.698-707
- Pais, Lynn S.
- Snow, Hana
- Weisburd, Ben
- Zhang, Shifa
- Baxter, Samantha M.
- DiTroia, Stephanie
- O'Heir, Emily
- England, Eleina
- Chao, Katherine R.
- Lemire, Gabrielle
- Osei‐Owusu, Ikeoluwa
- VanNoy, Grace E.
- Wilson, Michael
- Nguyen, Kevin
- Arachchi, Harindra
- Phu, William
- Solomonson, Matthew
- Mano, Stacy
- O'Leary, Melanie
- Lovgren, Alysia
- Babb, Lawrence
- Austin‐Tse, Christina A.
- Rehm, Heidi L.
- MacArthur, Daniel G.
- O'Donnell‐Luria, Anne
2022
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Human mutation, 2022-08, Vol.43 (8), p.1114-1121
2022
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Annals of neurology, 2022-02, Vol.91 (2), p.225-237
- Zech, Michael
- Kopajtich, Robert
- Steinbrücker, Katja
- Bris, Céline
- Gueguen, Naig
- Feichtinger, René G.
- Achleitner, Melanie T.
- Duzkale, Neslihan
- Périvier, Maximilien
- Koch, Johannes
- Engelhardt, Harald
- Freisinger, Peter
- Wagner, Matias
- Brunet, Theresa
- Berutti, Riccardo
- Smirnov, Dmitrii
- Navaratnarajah, Tharsini
- Rodenburg, Richard J.T.
- Pais, Lynn S
- Austin‐Tse, Christina
- O'Leary, Melanie
- Boesch, Sylvia
- Jech, Robert
- Bakhtiari, Somayeh
- Jin, Sheng Chih
- Wilbert, Friederike
- Kruer, Michael C
- Wortmann, Saskia B.
- Eckenweiler, Matthias
- Mayr, Johannes A.
- Distelmaier, Felix
- Steinfeld, Robert
- Winkelmann, Juliane
- Prokisch, Holger
2022
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Genome research, 2012-08, Vol.22 (8), p.1541
2012
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Molecular biology of the cell, 2014-06, Vol.25 (12), p.1836-1844
2014
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Npj genomic medicine, 2022-04, Vol.7 (1), p.27-27, Article 27
- Austin-Tse, Christina A
- Jobanputra, Vaidehi
- Perry, Denise L
- Bick, David
- Taft, Ryan J
- Venner, Eric
- Gibbs, Richard A
- Young, Ted
- Barnett, Sarah
- Belmont, John W
- Boczek, Nicole
- Chowdhury, Shimul
- Ellsworth, Katarzyna A
- Guha, Saurav
- Kulkarni, Shashikant
- Marcou, Cherisse
- Meng, Linyan
- Murdock, David R
- Rehman, Atteeq U
- Spiteri, Elizabeth
- Thomas-Wilson, Amanda
- Kearney, Hutton M
- Rehm, Heidi L
2022
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The New England journal of medicine, 2020-02, Vol.382 (8), p.745-753
- Udler, Miriam S
- Powe, Camille E
- Austin-Tse, Christina A
- Cabot, Richard C
- Tran, Kathy M
- Rosenberg, Eric S
- Dudzinski, David M
- Shepard, Jo-Anne O
- Corpuz, Tara
- Pierce, Virginia M
- McDonald, Emily K
- Baggett, Meridale V
- Sgroi, Dennis C
- Tran, Kathy M.
- Shepard, Jo-Anne O.
- Dudzinski, David M.
- Sgroi, Dennis C.
- Pierce, Virginia M.
- Baggett, Meridale V.
- Rosenberg, Eric S.
- McDonald, Emily K.
- Cabot, Richard C.
2020
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Science (American Association for the Advancement of Science), 2016-12, Vol.354 (6319), p.1549-1549
2016
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Nature genetics, 2012-06, Vol.44 (6), p.714-719
- PANIZZI, Jennifer R
- BECKER-HECK, Anita
- OLBRICH, Heike
- WERNER, Claudius
- HÄFFNER, Karsten
- HELLMAN, Nathan
- CHODHARI, Rahul
- GUPTA, Amar
- KRAMER-ZUCKER, Albrecht
- OLALE, Felix
- BURDINE, Rebecca D
- SCHIER, Alexander F
- CASTLEMAN, Victoria H
- O'CALLAGHAN, Christopher
- CHUNG, Eddie M. K
- REINHARDT, Richard
- MITCHISON, Hannah M
- KING, Stephen M
- OMRAN, Heymut
- DRUMMOND, Iain A
- AL-MUTAIRI, Dalal A
- YAN LIU
- LOGES, Niki T
- PATHAK, Narendra
- AUSTIN-TSE, Christina
- SHERIDAN, Eamonn
- SCHMIDTS, Miriam
2012
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American journal of human genetics, 2023-09, Vol.110 (9), p.1454-1469
- Lowther, Chelsea
- Valkanas, Elise
- Giordano, Jessica L.
- Wang, Harold Z.
- Currall, Benjamin B.
- O’Keefe, Kathryn
- Pierce-Hoffman, Emma
- Kurtas, Nehir E.
- Whelan, Christopher W.
- Hao, Stephanie P.
- Weisburd, Ben
- Jalili, Vahid
- Fu, Jack
- Wong, Isaac
- Collins, Ryan L.
- Zhao, Xuefang
- Austin-Tse, Christina A.
- Evangelista, Emily
- Lemire, Gabrielle
- Aggarwal, Vimla S.
- Lucente, Diane
- Gauthier, Laura D.
- Tolonen, Charlotte
- Sahakian, Nareh
- Stevens, Christine
- An, Joon-Yong
- Dong, Shan
- Norton, Mary E.
- MacKenzie, Tippi C.
- Devlin, Bernie
- Gilmore, Kelly
- Powell, Bradford C.
- Brandt, Alicia
- Vetrini, Francesco
- DiVito, Michelle
- Sanders, Stephan J.
- MacArthur, Daniel G.
- Hodge, Jennelle C.
- O'Donnell-Luria, Anne
- Rehm, Heidi L.
- Vora, Neeta L.
- Levy, Brynn
- Brand, Harrison
- Wapner, Ronald J.
- Talkowski, Michael E.
2023
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Genetics in medicine, 2021-09, Vol.23 (9), p.1689-1696
2021
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Genetics in Medicine Open, 2024, Vol.2, p.101136, Article 101136
2024
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European journal of medical genetics, 2018-10, Vol.61 (10), p.621-626
2018
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De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
2024
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Nature communications, 2022-08, Vol.13 (1), p.5106-11, Article 5106
- Halford, Jennifer L
- Morrill, Valerie N
- Choi, Seung Hoan
- Jurgens, Sean J
- Melloni, Giorgio
- Marston, Nicholas A
- Weng, Lu-Chen
- Nauffal, Victor
- Hall, Amelia W
- Gunn, Sophia
- Austin-Tse, Christina A
- Pirruccello, James P
- Khurshid, Shaan
- Rehm, Heidi L
- Benjamin, Emelia J
- Boerwinkle, Eric
- Brody, Jennifer A
- Correa, Adolfo
- Fornwalt, Brandon K
- Gupta, Namrata
- Haggerty, Christopher M
- Harris, Stephanie
- Heckbert, Susan R
- Hong, Charles C
- Kooperberg, Charles
- Lin, Henry J
- Loos, Ruth J F
- Mitchell, Braxton D
- Morrison, Alanna C
- Post, Wendy
- Psaty, Bruce M
- Redline, Susan
- Rice, Kenneth M
- Rich, Stephen S
- Rotter, Jerome I
- Schnatz, Peter F
- Soliman, Elsayed Z
- Sotoodehnia, Nona
- Wong, Eugene K
- Sabatine, Marc S
- Ruff, Christian T
- Lunetta, Kathryn L
- Ellinor, Patrick T
- Lubitz, Steven A
2022
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Nature communications, 2022-09, Vol.13 (1), p.5767-1, Article 5767
- Halford, Jennifer L
- Morrill, Valerie N
- Choi, Seung Hoan
- Jurgens, Sean J
- Melloni, Giorgio
- Marston, Nicholas A
- Weng, Lu-Chen
- Nauffal, Victor
- Hall, Amelia W
- Gunn, Sophia
- Austin-Tse, Christina A
- Pirruccello, James P
- Khurshid, Shaan
- Rehm, Heidi L
- Benjamin, Emelia J
- Boerwinkle, Eric
- Brody, Jennifer A
- Correa, Adolfo
- Fornwalt, Brandon K
- Gupta, Namrata
- Haggerty, Christopher M
- Harris, Stephanie
- Heckbert, Susan R
- Hong, Charles C
- Kooperberg, Charles
- Lin, Henry J
- Loos, Ruth J F
- Mitchell, Braxton D
- Morrison, Alanna C
- Post, Wendy
- Psaty, Bruce M
- Redline, Susan
- Rice, Kenneth M
- Rich, Stephen S
- Rotter, Jerome I
- Schnatz, Peter F
- Soliman, Elsayed Z
- Sotoodehnia, Nona
- Wong, Eugene K
- Sabatine, Marc S
- Ruff, Christian T
- Lunetta, Kathryn L
- Ellinor, Patrick T
- Lubitz, Steven A
2022
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100570, Article 100570
2023
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Genetics in Medicine Open, 2024, Vol.2, p.101481, Article 101481
- Austin-Tse, Christina
- DiTroia, Stephanie
- O'Leary, Melanie
- VanNoy, Grace
- Mangilog, Brian
- Shah, Gulalai
- Martinez, Eva
- Serrano, Jillian
- Pais, Lynn
- O'Heir, Emily
- Osei-Owusu, Ikeoluwa
- Lemire, Gabrielle
- Ganesh, Vijay
- Stenton, Sarah
- Amin, Mutaz
- Socarras, Kayla
- Singh, Mugdha
- Hall, Stacey
- Larsson, Katie
- Singer-Berk, Moriel
- Marten, Daniel
- Wilson, Michael
- Snow, Hana
- Blankenmeister, Benjamin
- Ma, Jialan
- Weisburd, Ben
- Sanchis-Juan, Alba
- Brand, Harrison
- Groopman, Emily
- Lovgren, Alysia
- Williamson, Clara
- Hollyer, Marissa
- England, Eleina
- Seaby, Eleanor
- Chao, Katherine
- Goodrich, Julia
- Baxter, Samantha
- MacArthur, Daniel
- Talkowski, Michael
- Wojcik, Monica
- O'Donnell-Luria, Anne
- Rehm, Heidi
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101476, Article 101476
- DiStefano, Marina
- Alkuraya, Fowzan
- Amberger, Joanna
- Austin-Tse, Christina
- Austine, Ola
- Balzotti, Marie
- Berg, Jonathan
- Bruford, Elspeth
- Byrne, Alicia
- Cibrian-Uhalte, Elena
- Coffey, Alison
- Firth, Helen
- Hamosh, Ada
- Hunt, Sarah
- Klein, Teri
- Kurtz, Catherine
- Leigh, Sarah
- Leong, Ivone
- Lucano, Caterina
- Maddirevula, Sateesh
- O'Neill, Audrey
- Puzriakova, Arina
- Rath, Ana
- Roberts, Angharad
- Radtke, Kelly
- Ramos, Erin
- Riggs, Erin
- Rodwell, Charlotte
- Taylor, Julie
- Sangkuhl, Katrin
- Snow, Catherine
- Stark, Zornitza
- Ware, James
- Wayburn, Bess
- Weller, Phillip
- Rehm, Heidi
2024
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P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
- DiStefano, Marina
- Amberger, Joanna
- Austin-Tse, Christina
- Balzotti, Marie
- Amin, Mutaz
- Berg, Jonathan
- Bocchini, Carol
- Bruford, Elspeth
- Alkuraya, Fowzan
- Coffey, Alison
- Collins, Heather
- Cunningham, Fiona
- Firth, Helen
- Fitzpatrick, David
- Einhorn, Yaron
- Goldstein, Jennifer
- Hamosh, Ada
- Leigh, Sarah
- Leong, Ivone
- Martin, Christa
- McDonagh, Ellen
- Puzriakova, Arina
- Rath, Ana
- Roberts, Angharad
- Radtke, Kelly
- Ramos, Erin
- Riggs, Erin
- Rodwell, Charlotte
- Sangkuhl, Katrin
- Snow, Catherine
- Stark, Zornitza
- Tahiliani, Jackie
- Ware, James
- Williams, Eleanor
- Wright, Caroline
- Yates, Michael
- Weller, Phillip
- Rehm, Heidi
2023
Link zum Volltext
Nature (London), 2024-03, Vol.627 (8003), p.340-346
- Bick, Alexander G.
- Metcalf, Ginger A.
- Mayo, Kelsey R.
- Rura, Shimon
- Carroll, Robert J.
- Linder, Jodell E.
- Jordan, I. King
- Nagar, Shashwat Deepali
- Sharma, Shivam
- Basford, Melissa
- Boerwinkle, Eric
- Cicek, Mine S.
- Doheny, Kimberly F.
- Eichler, Evan E.
- Gabriel, Stacey
- Gibbs, Richard A.
- Glazer, David
- Harris, Paul A.
- Jarvik, Gail P.
- Philippakis, Anthony
- Rehm, Heidi L.
- Roden, Dan M.
- Thibodeau, Stephen N.
- Topper, Scott
- Wirkus, Samantha J.
- Wagner, Victoria A.
- Meyer, Jeffrey G.
- Muzny, Donna M.
- Venner, Eric
- Mawhinney, Michelle Z.
- Griffith, Sean M. L.
- Hsu, Elvin
- Ling, Hua
- Adams, Marcia K.
- Walker, Kimberly
- Hu, Jianhong
- Doddapaneni, Harsha
- Kovar, Christie L.
- Murugan, Mullai
- Dugan, Shannon
- Lennon, Niall J.
- Austin-Tse, Christina
- Banks, Eric
- Gatzen, Michael
- Gupta, Namrata
- Larsson, Katie
- McDonough, Sheli
- Harrison, Steven M.
- Kachulis, Christopher
- Lebo, Matthew S.
- Neben, Cynthia L.
- Steeves, Marcie
- Zhou, Alicia Y.
- Smith, Joshua D.
- Frazar, Christian D.
- Patterson, Karynne E.
- Wheeler, Marsha M.
- McGee, Sean
- Lockwood, Christina M.
- Shirts, Brian H.
- Pritchard, Colin C.
- Murray, Mitzi L.
- Vasta, Valeria
- Richardson, Matthew A.
- Buchan, Jillian G.
- Radhakrishnan, Aparna
- Krumm, Niklas
- Ehmen, Brenna W.
- Schwartz, Sophie
- Aster, M. Morgan T.
- Cibulskis, Kristian
- Haessly, Andrea
- Asch, Rebecca
- Cremer, Aurora
- Degatano, Kylee
- Shergill, Akum
- Gauthier, Laura D.
- Lee, Samuel K.
- Hatcher, Aaron
- Grant, George B.
- Brandt, Genevieve R.
- Covarrubias, Miguel
- Able, Ashley
- Green, Ashley E.
- Zhang, Jennifer
- Condon, Henry R.
- Wang, Yuanyuan
- Dillon, Moira K.
- Albach, C. H.
- Baalawi, Wail
- Choi, Seung Hoan
- Wang, Xin
- Rosenthal, Elisabeth A.
- Ramirez, Andrea H.
- Lim, Sokny
- Ozenberger, Bradley
- Wise, Anastasia L.
- Lunt, Chris
- Ginsburg, Geoffrey S.
- Denny, Joshua C.
2024
Link zum Volltext
American journal of human genetics, 2023-08, Vol.110 (8), p.1229-1248
- Wojcik, Monica H.
- Reuter, Chloe M.
- Marwaha, Shruti
- Mahmoud, Medhat
- Duyzend, Michael H.
- Barseghyan, Hayk
- Yuan, Bo
- Boone, Philip M.
- Groopman, Emily E.
- Délot, Emmanuèle C.
- Jain, Deepti
- Sanchis-Juan, Alba
- Starita, Lea M.
- Talkowski, Michael
- Montgomery, Stephen B.
- Bamshad, Michael J.
- Chong, Jessica X.
- Wheeler, Matthew T.
- Berger, Seth I.
- O'Donnell-Luria, Anne
- Sedlazeck, Fritz J.
- Miller, Danny E.
2023
Link zum Volltext
Journal of cell science, 2021-07, Vol.134 (14)
2021
Link zum Volltext
Genetics in medicine, 2022-08, Vol.24 (8), p.1732-1742
- DiStefano, Marina T.
- Goehringer, Scott
- Babb, Lawrence
- Alkuraya, Fowzan S.
- Amberger, Joanna
- Amin, Mutaz
- Austin-Tse, Christina
- Balzotti, Marie
- Berg, Jonathan S.
- Birney, Ewan
- Bocchini, Carol
- Bruford, Elspeth A.
- Coffey, Alison J.
- Collins, Heather
- Cunningham, Fiona
- Daugherty, Louise C.
- Einhorn, Yaron
- Firth, Helen V.
- Fitzpatrick, David R.
- Foulger, Rebecca E.
- Goldstein, Jennifer
- Hamosh, Ada
- Hurles, Matthew R.
- Leigh, Sarah E.
- Leong, Ivone U.S.
- Maddirevula, Sateesh
- Martin, Christa L.
- McDonagh, Ellen M.
- Olry, Annie
- Puzriakova, Arina
- Radtke, Kelly
- Ramos, Erin M.
- Rath, Ana
- Riggs, Erin Rooney
- Roberts, Angharad M.
- Rodwell, Charlotte
- Snow, Catherine
- Stark, Zornitza
- Tahiliani, Jackie
- Tweedie, Susan
- Ware, James S.
- Weller, Phillip
- Williams, Eleanor
- Wright, Caroline F.
- Yates, Thabo Michael
- Rehm, Heidi L.
2022
Link zum Volltext
American journal of human genetics, 2013-10, Vol.93 (4), p.672-686
- Austin-Tse, Christina
- Halbritter, Jan
- Zariwala, Maimoona A.
- Gilberti, Renée M.
- Gee, Heon Yung
- Hellman, Nathan
- Pathak, Narendra
- Liu, Yan
- Panizzi, Jennifer R.
- Patel-King, Ramila S.
- Tritschler, Douglas
- Bower, Raqual
- O’Toole, Eileen
- Porath, Jonathan D.
- Hurd, Toby W.
- Chaki, Moumita
- Diaz, Katrina A.
- Kohl, Stefan
- Lovric, Svjetlana
- Hwang, Daw-Yang
- Braun, Daniela A.
- Schueler, Markus
- Airik, Rannar
- Otto, Edgar A.
- Leigh, Margaret W.
- Noone, Peadar G.
- Carson, Johnny L.
- Davis, Stephanie D.
- Pittman, Jessica E.
- Ferkol, Thomas W.
- Atkinson, Jeffry J.
- Olivier, Kenneth N.
- Sagel, Scott D.
- Dell, Sharon D.
- Rosenfeld, Margaret
- Milla, Carlos E.
- Loges, Niki T.
- Omran, Heymut
- Porter, Mary E.
- King, Stephen M.
- Knowles, Michael R.
- Drummond, Iain A.
- Hildebrandt, Friedhelm
2013
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