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American journal of human genetics, 2022-12, Vol.109 (12), p.2163-2177
- Pejaver, Vikas
- Byrne, Alicia B.
- Feng, Bing-Jian
- Pagel, Kymberleigh A.
- Mooney, Sean D.
- Karchin, Rachel
- O’Donnell-Luria, Anne
- Harrison, Steven M.
- Tavtigian, Sean V.
- Greenblatt, Marc S.
- Biesecker, Leslie G.
- Radivojac, Predrag
- Brenner, Steven E.
- Tayoun, Ahmad A.
- Berg, Jonathan S.
- Cutting, Garry R.
- Ellard, Sian
- Kang, Peter
- Karbassi, Izabela
- Mester, Jessica
- Pesaran, Tina
- Plon, Sharon E.
- Rehm, Heidi L.
- Strande, Natasha T.
- Topper, Scott
2022
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American journal of human genetics, 2023-07, Vol.110 (7), p.1046-1067
- Walker, Logan C.
- Hoya, Miguel de la
- Wiggins, George A.R.
- Lindy, Amanda
- Vincent, Lisa M.
- Parsons, Michael T.
- Canson, Daffodil M.
- Bis-Brewer, Dana
- Cass, Ashley
- Tchourbanov, Alexander
- Zimmermann, Heather
- Byrne, Alicia B.
- Pesaran, Tina
- Karam, Rachid
- Harrison, Steven M.
- Spurdle, Amanda B.
- Biesecker, Leslie G.
- Tayoun, Ahmad A.
- Berg, Jonathan S.
- Brenner, Steven E.
- Cutting, Garry R.
- Ellard, Sian
- Greenblatt, Marc S.
- Kang, Peter
- Karbassi, Izabela
- Karchin, Rachel
- Mester, Jessica
- O’Donnell-Luria, Anne
- Plon, Sharon E.
- Rehm, Heidi L.
- Strande, Natasha T.
- Tavtigian, Sean V.
- Topper, Scott
2023
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American journal of human genetics, 2024-01, Vol.111 (1), p.24-38
2024
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Human mutation, 2018-12, Vol.39 (12), p.1827-1834
2018
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100710, Article 100710
2023
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Neuron (Cambridge, Mass.), 2020-04, Vol.106 (2), p.246-255.e6
- Kodani, Andrew
- Kenny, Connor
- Lai, Abbe
- Gonzalez, Dilenny M.
- Stronge, Edward
- Sejourne, Gabrielle M.
- Isacco, Laura
- Partlow, Jennifer N.
- O’Donnell, Anne
- McWalter, Kirsty
- Byrne, Alicia B.
- Barkovich, A. James
- Yang, Edward
- Hill, R. Sean
- Gawlinski, Pawel
- Wiszniewski, Wojciech
- Cohen, Julie S.
- Fatemi, S. Ali
- Baranano, Kristin W.
- Sahin, Mustafa
- Vossler, David G.
- Yuskaitis, Christopher J.
- Walsh, Christopher A.
2020
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Genetics in medicine, 2024-07, p.101213, Article 101213
- Stenton, Sarah L.
- Pejaver, Vikas
- Bergquist, Timothy
- Biesecker, Leslie G.
- Byrne, Alicia B.
- Nadeau, Emily A.W.
- Greenblatt, Marc S.
- Harrison, Steven M.
- Tavtigian, Sean V.
- Radivojac, Predrag
- Brenner, Steven E.
- O’Donnell-Luria, Anne
- Tayoun, Ahmad A.
- Berg, Jonathan S.
- Cutting, Garry R.
- Ellard, Sian
- Kang, Peter
- Karbassi, Izabela
- Karchin, Rachel
- Mester, Jessica
- Pesaran, Tina
- Plon, Sharon E.
- Rehm, Heidi L.
- Strande, Natasha T.
- Topper, Scott
2024
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BMC medical genomics, 2021-02, Vol.14 (1), p.64-7, Article 64
2021
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American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1273-1277
2020
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Genetics in Medicine Open, 2024, Vol.2, p.101580, Article 101580
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101616, Article 101616
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101433, Article 101433
2024
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Journal of medical genetics, 2022-05, Vol.59 (5), p.511
- Tan, Natalie B
- Pagnamenta, Alistair T
- Ferla, Matteo P
- Gadian, Jonathan
- Chung, Brian Hy
- Chan, Marcus Cy
- Fung, Jasmine Lf
- Cook, Edwin
- Guter, Stephen
- Boschann, Felix
- Heinen, Andre
- Schallner, Jens
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Sarret, Catherine
- Mittag, Dana
- Demmer, Laurie
- Stapleton, Rachel
- Saida, Ken
- Matsumoto, Naomichi
- Miyake, Noriko
- Sheffer, Ruth
- Mor-Shaked, Hagar
- Barnett, Christopher P
- Byrne, Alicia B
- Scott, Hamish S
- Kraus, Alison
- Cappuccio, Gerarda
- Brunetti-Pierri, Nicola
- Iorio, Raffaele
- Di Dato, Fabiola
- Pais, Lynn S
- Yeung, Alison
- Tan, Tiong Y
- Taylor, Jenny C
- Christodoulou, John
- White, Susan M
2022
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Npj genomic medicine, 2019-11, Vol.4 (1), p.1-8, Article 28
2019
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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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Wilderness & environmental medicine, 2018-03, Vol.29 (1), p.3-4
2018
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Wilderness & environmental medicine, 2017-06, Vol.28 (2), p.S1-S2
2017
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Wilderness & environmental medicine, 2017-03, Vol.28 (1), p.2-3
2017
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The FASEB journal, 2021-05, Vol.35 (S1), p.n/a, Article fasebj.2021.35.S1.00175
2021
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Genetics in medicine, 2022-04, Vol.24 (4), p.784-797
- Lake, Nicole J.
- Sobreira, Nara
- Chong, Jessica X.
- Chadwick, Lisa H.
- Coban-Akdemir, Zeynep H.
- Doheny, Kimberly F.
- Lek, Monkol
- Jhangiani, Shalini N.
- Lifton, Richard P.
- Matise, Tara C.
- Lupski, James R.
- Valle, David
- Nickerson, Deborah A.
- Akay, Gulsen
- Antonescu, Corina
- Austin-Tse, Christina A.
- Bacus, Tamara J.
- Bahrambeigi, Vahid
- Belmont, John W.
- Below, Jennifer E.
- Bilguvar, Kaya
- Boehm, Corinne D.
- Boone, Philip M.
- Calame, Daniel
- Cao, Xiaolong
- Carvalho, Claudia
- Chander, Varuna
- Clarke, Declan
- Delano, Kayla
- Doddapaneni, Harshavardhan
- Du, Renqian
- Fatih, Jawid
- Francioli, Laurent C.
- Fu, Jack
- Gambin, Tomasz
- Gandhi, Mira
- Ganesh, Vijay S.
- Garimella, Kiran V.
- Gauthier, Laura D.
- Gonzaga-Jauregui, Claudia
- Grochowski, Christopher M.
- Gu, Shen
- Hansen, Adam
- Harmanci, Arif O.
- Huang, Yongqing
- Johanson, Eric
- Karaca, Ender
- Kumar, Sushant
- Laricchia, Kristen M.
- Ling, Hua
- Lipson, Rachel B.
- MacMillan, Melissa P.
- Marshall, Jamie L.
- Martin, Renan
- McGee, Sean
- Mekonnen, Betselote
- Mullen, Thomas E.
- Murugan, Mullai
- Muzny, Donna M.
- Myers, Ben
- Neira, Juanita
- Nielsen, Patrick M.
- Nudelman, Natalie
- O’Leary, Melanie C.
- Pais, Lynn S.
- Patterson, Karynne
- Pehlivan, Davut
- Penney, Samantha
- Pierce-Hoffman, Emma
- Radhakrishnan, Aparna
- Richardson, Matthew A.
- Roote, Gwendolin T.
- Sabo, Aniko
- Scott, Daryl A.
- Shaw, Chad A.
- Shelford, Tameka
- Shively, Kathryn M.
- Snow, Hana
- Solomonson, Matthew
- Song, Xiaofei
- Stephan, Taylorlyn
- Sutton, V. Reid
- Sveden, Abigail
- Valivullah, Zaheer
- Wang, Lu
- Wangler, Michael F.
- Watts, Nicholas A.
- Wilson, Michael W.
- Wiszniewski, Wojciech
- Witmer, Dane
- Witzgall, Lauren
- Wohler, Elizabeth
- Wu, Nan
- Yi, Qian
- Zeiger, Jordan E.
- Zhang, Chaofan
- Zhang, Yeting
- Zoghbi, Huda
- van den Veyver, Igna
- O’Donnell-Luria, Anne
2022
Volltextzugriff (PDF)
American journal of obstetrics and gynecology, 2024-01, Vol.230 (1), p.S106-S106
- Galloway, Stephanie
- Giordano, Jessica L.
- Thomas-Wilson, Amanda
- Okur, Volkan
- Shawber, Carrie J.
- Gilmore, Kelly L.
- Ratliff, Julie
- Lazar, Roni Zemet
- Ganapathi, Mythily
- Chandler, Natalie
- Vora, Neeta L.
- Dharmadhikari, Avinash V.
- Van Ziffle, Jessica
- Sparks, Teresa N.
- Chitayat, David
- Chitty, Lyn
- Riggs, Erin
- Byrne, Alicia B.
- Wapner, Ronald J.
- Chung, Wendy
- Van den Veyver, Ignatia B.
2024
Volltextzugriff (PDF)
American journal of human genetics, 2022-11, Vol.109 (11), p.1960-1973
- Tudini, Emma
- Andrews, James
- Lawrence, David M.
- King-Smith, Sarah L.
- Baker, Naomi
- Baxter, Leanne
- Beilby, John
- Bennetts, Bruce
- Beshay, Victoria
- Black, Michael
- Boughtwood, Tiffany F.
- Brion, Kristian
- Cheong, Pak Leng
- Christie, Michael
- Christodoulou, John
- Cox, Kathy
- Davis, Mark R.
- Dejong, Lucas
- Dinger, Marcel E.
- Doig, Kenneth D.
- Douglas, Evelyn
- Dubowsky, Andrew
- Ellul, Melissa
- Fellowes, Andrew
- Fisk, Katrina
- Fortuno, Cristina
- Friend, Kathryn
- Gallagher, Renee L.
- Gao, Song
- Hackett, Emma
- Hadler, Johanna
- Hipwell, Michael
- Ho, Gladys
- Hollway, Georgina
- Hooper, Amanda J.
- Kassahn, Karin S.
- Krishnaraj, Rahul
- Lau, Chiyan
- Le, Huong
- San Leong, Huei
- Lundie, Ben
- Lunke, Sebastian
- Marty, Anthony
- McPhillips, Mary
- Nguyen, Lan T.
- Nones, Katia
- Palmer, Kristen
- Pearson, John V.
- Quinn, Michael C.J.
- Rawlings, Lesley H.
- Sadedin, Simon
- Sanchez, Louisa
- Schreiber, Andreas W.
- Sigalas, Emanouil
- Simsek, Aygul
- Soubrier, Julien
- Stark, Zornitza
- Thompson, Bryony A.
- U, James
- Vakulin, Cassandra G.
- Wells, Amanda V.
- Wise, Cheryl A.
- Woods, Rick
- Ziolkowski, Andrew
- Brion, Marie-Jo
- Scott, Hamish S.
- Thorne, Natalie P.
- Spurdle, Amanda B.
- Akesson, Lauren
- Allcock, Richard
- Ashton, Katie
- Bell, Damon A.
- Brown, Anna
- Buckley, Michael
- Burrows, Linda
- Byrne, Alicia
- Chan, Eva
- Cliffe, Corrina
- Clifton-Bligh, Roderick
- Dooley, Susan
- Fernandez, Miriam Fanjul
- Farnsworth, Elizabeth
- Ha, Thuong
- Henry, Denae
- Holds, Duncan
- Holman, Katherine
- Jackson, Matilda
- Kang, Sinlay
- Luxford, Catherine
- McManus, Sam
- Mehrtens, Rachael
- Meldrum, Cliff
- Pantaleo, Sarah-Jane
- Phelan, Dean
- Pontikinas, Electra
- Ravine, Anja
- Roscioli, Tony
- Scott, Rodney
- Simons, Keryn
- Vanwageningen, Oliver
2022
Volltextzugriff (PDF)
Nature medicine, 2023-01, Vol.29 (1), p.180-189
- Byrne, Alicia B
- Arts, Peer
- Ha, Thuong T
- Kassahn, Karin S
- Pais, Lynn S
- O'Donnell-Luria, Anne
- Babic, Milena
- Frank, Mahalia S B
- Feng, Jinghua
- Wang, Paul
- Lawrence, David M
- Eshraghi, Leila
- Arriola, Luis
- Toubia, John
- Nguyen, Hung
- McGillivray, George
- Pinner, Jason
- McKenzie, Fiona
- Morrow, Rebecca
- Lipsett, Jill
- Manton, Nick
- Khong, T Yee
- Moore, Lynette
- Liebelt, Jan E
- Schreiber, Andreas W
- King-Smith, Sarah L
- Hardy, Tristan S E
- Jackson, Matilda R
- Barnett, Christopher P
- Scott, Hamish S
2023
Volltextzugriff (PDF)
Genetics in medicine, 2024-03, Vol.26 (3), p.101036, Article 101036
- Schmidt, Ryan J.
- Steeves, Marcie
- Bayrak-Toydemir, Pinar
- Benson, Katherine A.
- Coe, Bradley P.
- Conlin, Laura K.
- Ganapathi, Mythily
- Garcia, John
- Gollob, Michael H.
- Jobanputra, Vaidehi
- Luo, Minjie
- Ma, Deqiong
- Maston, Glenn
- McGoldrick, Kelly
- Palculict, T. Blake
- Pesaran, Tina
- Pollin, Toni I.
- Qian, Emily
- Rehm, Heidi L.
- Riggs, Erin R.
- Schilit, Samantha L.P.
- Sergouniotis, Panagiotis I.
- Tvrdik, Tatiana
- Watkins, Nicholas
- Zec, Lauren
- Zhang, Wenying
- Lebo, Matthew S.
- Byrne, Alicia
- Spurdle, Amanda
- Palculict, Blake
- Coe, Bradley
- Deqiong, Ma
- Lyon, Elaine
- Groopman, Emily
- Puffenberger, Erik
- Riggs, Erin
- Couch, Fergus
- Dziadzio, Hannah
- Harraway, James
- Mester, Jessica
- Lerner-Ellis, Jordan
- Benson, Katherine
- Avello, Kayleigh
- Conlin, Laura
- Richardson, Marcy
- Lebo, Matt
- Kelly, Melissa
- Gollob, Michael
- Niu, Nifang
- Sergouniotis, Panagiotis
- Schmidt, Ryan
- Schilit, Samantha
- Richards, Sarah
- Pollin, Toni
- Chen, Wuyan
- Fan, Yuxin
2024
Volltextzugriff (PDF)
Nature medicine, 2024-01, Vol.30 (1), p.302-302
- Byrne, Alicia B
- Arts, Peer
- Ha, Thuong T
- Kassahn, Karin S
- Pais, Lynn S
- O'Donnell-Luria, Anne
- Babic, Milena
- Frank, Mahalia S B
- Feng, Jinghua
- Wang, Paul
- Lawrence, David M
- Eshraghi, Leila
- Arriola, Luis
- Toubia, John
- Nguyen, Hung
- McGillivray, George
- Pinner, Jason
- McKenzie, Fiona
- Morrow, Rebecca
- Lipsett, Jill
- Manton, Nick
- Khong, T Yee
- Moore, Lynette
- Liebelt, Jan E
- Schreiber, Andreas W
- King-Smith, Sarah L
- Hardy, Tristan S E
- Jackson, Matilda R
- Barnett, Christopher P
- Scott, Hamish S
2024
Volltextzugriff (PDF)
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