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Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
- Ruiter, Jos P.N.
- van Lint, Alida E.M.
- Pras-Raves, Mia
- Wever, Eric
- Guillen Sacoto, Maria J.
- Begtrup, Amber
- Tarnopolsky, Mark
- Sell, Susan L.
- Nowak, Catherine B.
- Douglas, Jessica
- Perlman, Seth
- Martin, Nicole
- Brault, Jennifer
- Gahl, William A.
- Alejandro, Mercedes E.
- Dai, Hongzheng
- Dhar, Shweta U.
- Hanchard, Neil A.
- Lee, Brendan H.
- Moretti, Paolo M.
- Murdock, David R.
- Nicholas, Sarah K.
- Potocki, Lorraine
- Scott, Daryl A.
- Eng, Christine M.
- Deardorff, Matthew
- Hassey, Kelly
- Sullivan, Kathleen
- Tan, Queenie K.-G.
- Beggs, Alan H.
- Berry, Gerard T.
- Cooper, Cynthia M.
- Pallais, J. Carl
- Rodan, Lance H.
- Kelley, Emily G.
- Morava, Eva
- Forghani, Irman
- Lam, Byron
- Levitt, Roy
- Liu, Xue Zhong
- McCauley, Jacob
- Tekin, Mustafa
- Thorson, Willa
- Findley, Laurie C.
- Krasnewich, Donna M.
- Manolio, Teri A.
- Goldrich, Madison P.
- Draper, David D.
- Nath, Avi
- Pusey, Barbara N.
- Toro, Camilo
- Baker, Eva
- Gochuico, Bernadette
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Adam, Margaret
- Amendola, Laura
- Cunningham, Michael
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Lam, Christina
- Raskind, Wendy
- Sybert, Virginia
- Ashley, Euan A.
- Coakley, Terra R.
- Hom, Jason
- Majcherska, Marta M.
- Martin, Beth A.
- Marwaha, Shruti
- Ruzhnikov, Maura
- Tabor, Holly K.
- Tucker, Brianna M.
- Zastrow, Diane B.
- Byrd, William E.
- Dell’Angelica, Esteban C.
- Douine, Emilie D.
- Mak, Bryan C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Nelson, Stanley F.
- Parker, Neil H.
- Sinsheimer, Janet S.
- Wang, Lee-kai
- Perry, Katherine Wesseling
- Woods, Jeremy D.
- Pace, Laura
- Marth, Gabor
- Viskochil, Dave
- Bayrak-Toydemir, Pinar
- Duncan, Laura
- Robertson, Amy K.
- Solem, Emily
- Schedl, Timothy
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Waisfisz, Quinten
- Zwijnenburg, Petra J.G.
- Wanders, Ronald J.A.
- Vaz, Frédéric M.
2021
Volltextzugriff (PDF)
Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1420-1435
- Srivastava, Siddharth
- Shaked, Hagar Mor
- Gable, Kenneth
- Gupta, Sita D
- Pan, Xueyang
- Somashekarappa, Niranjanakumari
- Han, Gongshe
- Mohassel, Payam
- Gotkine, Marc
- Doney, Elizabeth
- Goldenberg, Paula
- Tan, Queenie K G
- Gong, Yi
- Kleinstiver, Benjamin
- Wishart, Brian
- Cope, Heidi
- Pires, Claudia Brito
- Stutzman, Hannah
- Spillmann, Rebecca C
- Sadjadi, Reza
- Elpeleg, Orly
- Lee, Chia-Hsueh
- Bellen, Hugo J
- Edvardson, Simon
- Eichler, Florian
- Dunn, Teresa M
2023
Volltextzugriff (PDF)
American journal of human genetics, 2024-01, Vol.111 (1), p.96-118
- Michener, Sydney L.
- Chan, Hiuling
- Rosenfeld, Jill A.
- Bekheirnia, Mir Reza
- Wagner, Matias
- Engels, Hartmut
- Guillen Sacoto, Maria J.
- McDonnell, Pamela P.
- Pastinen, Tomi
- Zhou, Dihong
- Bolton, Jeffrey
- Julia Suh, Dong Sun
- Toosi, Mehran Beiraghi
- Maroofian, Reza
- Schaefer, Gerald Bradley
- Russ-Hall, Sophie
- Carvill, Gemma L.
- Mefford, Heather
- Acosta, Maria T.
- Adams, David R.
- Amendola, Laura
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Bican, Anna
- Blue, Elizabeth
- Botto, Lorenzo
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Carey, John
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Douine, Emilie D.
- Eckstein, David J.
- Fieg, Elizabeth L.
- Forghani, Irman
- Godfrey, Rena A.
- Grajewski, Alana
- Hahn, Sihoun
- Hisama, Fuki M.
- Hutchison, Sarah
- Introne, Wendy
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Korrick, Susan
- Kozuira, Mary
- Krakow, Deborah
- Kravets, Elijah
- Lalani, Seema R.
- LeBlanc, Kimberly
- Levitt, Roy
- Lewis, Richard A.
- Loo, Sandra K.
- Mahoney, Rachel
- Mao, Rong
- Maravilla, Kenneth
- Marwaha, Shruti
- McCray, Alexa T.
- Merritt, J. Lawrence
- Morava, Eva
- Nakano-Okuno, Mariko
- Nelson, Stanley F.
- Phillips III, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Saporta, Mario
- Seto, Elaine
- Sisco, Kathy
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Tabor, Holly K.
- Tan, Queenie K.-G.
- Tan, Amelia L.M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vogel, Tiphanie P.
- Wallace, Stephanie
- Wambach, Jennifer
- Wegner, Daniel
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Chao, Hsiao-Tuan
2024
Volltextzugriff (PDF)
Proceedings of the National Academy of Sciences - PNAS, 2023-01, Vol.120 (4), p.e2209964120
- Akula, Shyam K
- Marciano, Jack H
- Lim, Youngshin
- Exposito-Alonso, David
- Hylton, Norma K
- Hwang, Grace H
- Neil, Jennifer E
- Dominado, Nicole
- Bunton-Stasyshyn, Rosie K
- Song, Janet H T
- Talukdar, Maya
- Schmid, Aloisia
- Teboul, Lydia
- Mo, Alisa
- Shin, Taehwan
- Finander, Benjamin
- Beck, Samantha G
- Yeh, Rebecca C
- Otani, Aoi
- Qian, Xuyu
- DeGennaro, Ellen M
- Alkuraya, Fowzan S
- Maddirevula, Sateesh
- Cascino, Gregory D
- Giannini, Caterina
- Burrage, Lindsay C
- Rosenfield, Jill A
- Ketkar, Shamika
- Clark, Gary D
- Bacino, Carlos
- Lewis, Richard A
- Segal, Rosalind A
- Bazan, J Fernando
- Smith, Kelly A
- Golden, Jeffrey A
- Cho, Ginam
- Walsh, Christopher A
2023
Volltextzugriff (PDF)
Proceedings of the National Academy of Sciences - PNAS, 2024-02, Vol.121 (9), p.e2322582121
2024
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Journal of medical genetics, 2023-11, Vol.60 (11), p.1092
- Mohajeri, Arezoo
- Vaseghi-Shanjani, Maryam
- Rosenfeld, Jill A
- Yang, Gui Xiang
- Lu, Henry
- Sharma, Mehul
- Lin, Susan
- Salman, Areesha
- Waqas, Meriam
- Sababi Azamian, Mahshid
- Worley, Kim C
- Del Bel, Kate L
- Kozak, Frederick K
- Rahmanian, Ronak
- Biggs, Catherine M
- Hildebrand, Kyla J
- Lalani, Seema R
- Nicholas, Sarah K
- Scott, Daryl A
- Mostafavi, Sara
- van Karnebeek, Clara
- Henkelman, Erika
- Halparin, Jessica
- Yang, Connie L
- Armstrong, Linlea
- Turvey, Stuart E
- Lehman, Anna
2023
Volltextzugriff (PDF)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Kurata, Harley T.
- Jamra, Rami Abou
- Alkelai, Anna
- Antonarakis, Stylianos E.
- Bolkier, Yoav
- Dickson, Patricia
- Donald, Kirsten A.
- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
- Ortiz-Gonzalez, Xilma
- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
- Tekin, Mustafa
- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Mefford, Heather
- Merritt, J. Lawrence
- Raskind, Wendy
- Sybert, Virginia
- Wener, Mark
- Wenger, Tara
- Fisher, Paul G.
- Reuter, Chloe M.
- Smith, Kevin S.
- Zastrow, Diane B.
- Nakano-Okuno, Mariko
- Whitlock, Jordan
- Butte, Manish J.
- Fogel, Brent L.
- Krakow, Deborah
- Lee, Hane
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Woods, Jeremy D.
- Andrews, Ashley
- Pace, Laura
- Viskochil, Dave
- Bican, Anna
- Kennedy, Jennifer
- Cogan, Joy D.
- Cole, F. Sessions
- Kiley, Dana
- Sisco, Kathy
- Schedl, Timothy
- Solnica-Krezel, Lilianna
- Pitt, Geoffrey S.
2021
Volltextzugriff (PDF)
The Journal of pediatrics, 2023-10, Vol.261, p.113537-113537, Article 113537
- Maghiro, AudreyStephannie
- Tabor, Holly K.
- Acosta, Maria T.
- Amendola, Laura
- Andrews, Ashley
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bennett, Jimmy
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Boyd, Brenna
- Burke, Elizabeth A.
- Byers, Peter
- Peter Chang, Ta Chen
- Chanprasert, Sirisak
- Clark, Gary D.
- Cobban, Laurel A.
- Cogan, Joy D.
- Sessions Cole, F.
- Colley, Heather A.
- Cope, Heidi
- D'Souza, Precilla
- Dasari, Surendra
- Dipple, Katrina
- Doherty, Daniel
- Dorrani, Naghmeh
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- Hassey, Kelly
- Holm, Ingrid A.
- Hom, Jason
- Introne, Wendy
- Izumi, Kosuke
- Jayadev, Suman
- Kiley, Dana
- Kobren, Shilpa N.
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Christina
- Lanza, Ian R.
- Lee, Brendan H.
- Loo, Sandra K.
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Manolio, Teri A.
- Marth, Gabor
- McConkie-Rosell, Allyn
- Mefford, Heather
- Nickerson, Deborah
- Nieves-Rodriguez, Shirley
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, Daryl A.
- Shashi, Vandana
- Shin, Jimann
- Sisco, Kathy
- Smith, Edward C.
- Solomon, Ben
- Sullivan, Jennifer A.
- Sybert, Virginia
- Tan, Amelia L.M.
- Tekin, Mustafa
- Telischi, Fred
- Toro, Camilo
- Ungar, Rachel A.
- Vanderver, Adeline
- Walker, Melissa
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
2023
Volltextzugriff (PDF)
American journal of human genetics, 2023-08, Vol.110 (8), p.1377-1393
- Morleo, Manuela
- Briere, Lauren C.
- Rosello, Marion
- Tirozzi, Alfonsina
- Tammaro, Roberta
- High, Frances A.
- Adams, David R.
- Alvey, Justin
- Bale, Jim
- Bayrak-Toydemir, Pinar
- Beggs, Alan H.
- Behrens, Edward
- Bejerano, Gill
- Bonner, Devon
- Butte, Manish J.
- Byrd, William E.
- Cassini, Thomas
- Coakley, Terra R.
- Cobban, Laurel A.
- Cole, F. Sessions
- Colley, Heather A.
- Dai, Hongzheng
- Davis, Joie
- Douine, Emilie D.
- Eckstein, David J.
- Emrick, Lisa T.
- Hadley, Don
- Hamid, Rizwan
- Hassey, Kelly
- Hayes, Nichole
- Horike-Pyne, Martha
- Huang, Alden
- Isasi, Rosario
- Izumi, Kosuke
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Byron
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marwaha, Shruti
- Mirzaa, Ghayda
- Morava, Eva
- Nakano-Okuno, Mariko
- Nicholas, Sarah K.
- Pallais, J. Carl
- Raskind, Wendy
- Rosenwasser, Natalie
- Sampson, Jacinda B.
- Schedl, Timothy
- Shashi, Vandana
- Smith, Edward C.
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Torella, Annalaura
- Spampanato, Carmine
- Pinelli, Michele
- Massimello, Marta
- Leuzzi, Vincenzo
- Romano, Corrado
- Amenta, Simona
- Grandone, Anna
- Marini, Carla
- Bigoni, Stefania
- Trabacca, Antonio
- De Rinaldis, Marta
- Ferrante, Luigi
- Tenconi, Romano
- van Gassen, Koen L.I.
- Attie-Bitach, Tania
- Zollino, Marcella
2023
Volltextzugriff (PDF)
Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
- Schoch, Kelly
- Esteves, Cecilia
- Bican, Anna
- Spillmann, Rebecca
- Cope, Heidi
- McConkie-Rosell, Allyn
- Walley, Nicole
- Fernandez, Liliana
- Kohler, Jennefer N
- Bonner, Devon
- Reuter, Chloe
- Stong, Nicholas
- Mulvihill, John J
- Novacic, Donna
- Wolfe, Lynne
- Abdelbaki, Ayat
- Toro, Camilo
- Tifft, Cyndi
- Malicdan, May
- Gahl, William
- Liu, Pengfei
- Newman, John
- Goldstein, David B
- Hom, Jason
- Sampson, Jacinda
- Wheeler, Matthew T
- Cogan, Joy
- Bernstein, Jonathan A
- Adams, David R
- McCray, Alexa T
- Shashi, Vandana
2021
Volltextzugriff (PDF)
Genetics in medicine, 2024-09, Vol.26 (9), p.101166, Article 101166
- Ugur, Berrak
- Zhang, Bo
- Feng, Wenjia
- Goddard, Pagé
- Kravets, Elijah
- Marwaha, Shruti
- Adams, David R.
- Andrews, Ashley
- Behrens, Edward
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bohnsack, John
- Botto, Lorenzo
- Boyd, Brenna
- Briere, Lauren C.
- Carrasquillo, Olveen
- Chanprasert, Sirisak
- Chinn, Ivan
- Coggins, Matthew
- Sessions Cole, F.
- Cope, Heidi
- Dasari, Surendra
- Dayal, Jyoti G.
- Dipple, Katrina
- Doherty, Daniel
- Dorrani, Naghmeh
- Doss, Argenia L.
- Earl, Dawn
- Ezell, Kimberly
- Fisher, Paul G.
- Gahl, William A.
- Glass, Ian
- Goddard, Page C.
- Halley, Meghan C.
- High, Frances
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Isasi, Rosario
- Izumi, Kosuke
- Jarvik, Gail P.
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Kozuira, Mary
- Lalani, Seema R.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Levitt, Roy
- Lewis, Richard A.
- Liu, Pengfei
- Liu, Xue Zhong
- Longo, Nicola
- Maas, Richard L.
- Manolio, Teri A.
- Mao, Rong
- Marom, Ronit
- Martin, Beth A.
- McCauley, Jacob
- McCray, Alexa T.
- Mefford, Heather
- Morava, Eva
- Moretti, Paolo
- Nakano-Okuno, Mariko
- Nelson, Stanley F.
- Neumann, Serena
- Nickerson, Deborah
- Palmer, Christina G.S.
- Parker, Neil H.
- Phillips, John A.
- Pusey Swerdzewski, Barbara N.
- Renteria, Genecee
- Rosenfeld, Jill A.
- Sacco, Ralph
- Schoch, Kelly
- Shin, Jimann
- Silverman, Edwin K.
- Sisco, Kathy
- Smith, Edward C.
- Solomon, Ben
- Sweetser, David A.
- Tran, Alyssa A.
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Zuchner, Stephan
- Worthey, Elizabeth A.
- Postlethwait, John
- Solnica-Krezel, Lila
2024
Volltextzugriff (PDF)
BMC genomics, 2024-01, Vol.25 (1), p.115-115, Article 115
2024
Volltextzugriff (PDF)
Pediatric neurology, 2024-11, Vol.160, p.45-53
- Mignot, Cyril
- Littlejohn, Rebecca O.
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Peter Chang, Ta Chen
- D'Souza, Precilla
- Dasari, Surendra
- Dayal, Jyoti G.
- Dell'Angelica, Esteban C.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hadley, Don
- Hahn, Sihoun
- Halley, Meghan C.
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Izumi, Kosuke
- Jarvik, Gail P.
- Jayadev, Suman
- Jean-Marie, Orpa
- Kennedy, Jennifer
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Lanza, Ian R.
- Levitt, Roy
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Morava, Eva
- Nakano-Okuno, Mariko
- Newman, John H.
- Nickerson, Deborah
- Oglesbee, Devin
- Pallais, J. Carl
- Phillips, John A.
- Rosenwasser, Natalie
- Schedl, Timothy
- Shashi, Vandana
- Sisco, Kathy
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Sarret, Catherine
- Platzer, Konrad
- Fischer, Susann
- Granadillo, Jorge L.
- Schreiner, Elisabeth
2024
Volltextzugriff (PDF)
Genetics in medicine, 2023-09, Vol.25 (9), p.100897-100897, Article 100897
- Schoch, Kelly
- Kranz, Peter G.
- Markert, M. Louise
- Arbogast, Thomas
- Muraresku, Colleen
- Adams, David R.
- Alvarez, Raquel L.
- Balasubramanyam, Ashok
- Bamshad, Michael
- Beck, Anita
- Behrens, Edward
- Bejerano, Gill
- Bellen, Hugo J.
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Brown, Gabrielle
- Butte, Manish J.
- Byrd, William E.
- Carrasquillo, Olveen
- Cassini, Thomas
- Chanprasert, Sirisak
- Chinn, Ivan
- Clark, Gary D.
- Coggins, Matthew
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dipple, Katrina
- Doherty, Daniel
- Fisher, Paul G.
- Fogel, Brent L.
- Glass, Ian
- Gochuico, Bernadette
- Godfrey, Rena A.
- Hahn, Sihoun
- Hamid, Rizwan
- Introne, Wendy
- Jamal, Fariha
- Jean-Marie, Orpa
- Kobren, Shilpa N.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- LeBlanc, Kimberly
- Lee, Brendan H.
- Loo, Sandra K.
- Loscalzo, Joseph
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Marom, Ronit
- Martínez-Agosto, Julian A.
- McConkie-Rosell, Allyn
- Merritt, J. Lawrence
- Might, Matthew
- Mulvihill, John
- Newman, John H.
- Nieves-Rodriguez, Shirley
- Orengo, James P.
- Pace, Laura
- Papp, Jeanette C.
- Parker, Neil H.
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- Sun, Angela
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- Telischi, Fred
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- Urv, Tiina K.
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2023
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Genetics in medicine, 2023-06, Vol.25 (6), p.100833-100833, Article 100833
- Kanca, Oguz
- Jangam, Sharayu
- Tifft, Cynthia
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- Baldridge, Dustin
- Bale, Jim
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- Boyd, Brenna
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- Coakley, Terra R.
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- Cogan, Joy D.
- Coggins, Matthew
- Colley, Heather A.
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- Crouse, Andrew B.
- Dai, Hongzheng
- Davis, Joie
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- Eckstein, David J.
- Emrick, Lisa T.
- Hadley, Don
- Hamid, Rizwan
- Hassey, Kelly
- Hayes, Nichole
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- Huang, Alden
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- Izumi, Kosuke
- Jarvik, Gail P.
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- Kennedy, Jennifer
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- Korrick, Susan
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- Lanza, Ian R.
- Lee, Brendan H.
- Loo, Sandra K.
- MacRae, Calum A.
- Maghiro, AudreyStephannie
- Marth, Gabor
- McCauley, Jacob
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- Might, Matthew
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- Nicholas, Sarah K.
- Orengo, James P.
- Pak, Stephen
- Pallais, J. Carl
- Palmer, Christina G.S.
- Parker, Neil H.
- Pusey Swerdzewski, Barbara N.
- Quinlan, Aaron
- Reuter, Chloe M.
- Rives, Lynette
- Rossignol, Francis
- Sacco, Ralph
- Sampson, Jacinda B.
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- Schedl, Timothy
- Shashi, Vandana
- Shin, Jimann
- Silverman, Edwin K.
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Spillmann, Rebecca C.
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- Sybert, Virginia
- Tabor, Holly K.
- Vanderver, Adeline
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
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- Hubshman, Monika Weisz
- Yamamoto, Shinya
- Zhang, Zhe
- Zuchner, Stephan
2023
Volltextzugriff (PDF)
Genetics in medicine, 2021-06, Vol.23 (6), p.1075-1085
- Krier, Joel B.
- Züchner, Stephan
- Huang, Alden
- Bastarache, Lisa
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- Adam, Margaret
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- Bademci, Guney
- Baker, Eva
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- Cole, F. Sessions
- Cunningham, Michael
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- McCauley, Jacob
- Merritt, J. Lawrence
- Might, Matthew
- Moretti, Paolo
- Murdock, David R.
- Nakano-Okuno, Mariko
- Nickerson, Deborah
- Oglesbee, Devin
- Pace, Laura
- Pallais, J. Carl
- Papp, Jeanette C.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Raja, Archana N.
- Renteria, Genecee
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2021
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.17-30
- Benke, Paul J.
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- Adam, Margaret
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- Barbouth, Deborah
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- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
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- Chang, Ta Chen Peter
- Coakley, Terra R.
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- Cole, F. Sessions
- Colley, Heather A.
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- Crouse, Andrew B.
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- Davis, Joie
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- Hadley, Don
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- Lam, Byron
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- Liu, Pengfei
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2024
Volltextzugriff (PDF)
Genetics in medicine, 2021-08, Vol.23 (8), p.1465-1473
- Erger, Florian
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- Ben Solomon
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2021
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Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.73-10, Article 73
2023
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-6, Article 6
2023
Volltextzugriff (PDF)
Genetics in medicine, 2021-12, Vol.23 (12), p.2467-2467
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- Mooijer, Petra M
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- Wever, Eric
- Millan, Francisca
- Guillen Sacoto, Maria J
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- Ladda, Roger L
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- Perlman, Seth
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- Vaz, Frédéric M
2021
Volltextzugriff (PDF)
Genetics in medicine, 2021-10, Vol.23 (10), p.2016-2016
- Kurata, Harley T.
- Jamra, Rami Abou
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- Antonarakis, Stylianos E.
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- Dickson, Patricia
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- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
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- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
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- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
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- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Mefford, Heather
- Merritt, J. Lawrence
- Raskind, Wendy
- Sybert, Virginia
- Wener, Mark
- Wenger, Tara
- Fisher, Paul G.
- Reuter, Chloe M.
- Smith, Kevin S.
- Zastrow, Diane B.
- Nakano-Okuno, Mariko
- Whitlock, Jordan
- Butte, Manish J.
- Fogel, Brent L.
- Krakow, Deborah
- Lee, Hane
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Woods, Jeremy D.
- Andrews, Ashley
- Pace, Laura
- Viskochil, Dave
- Bican, Anna
- Kennedy, Jennifer
- Cogan, Joy D.
- Cole, F. Sessions
- Kiley, Dana
- Sisco, Kathy
- Schedl, Timothy
- Solnica-Krezel, Lilianna
- Pitt, Geoffrey S.
2021
Volltextzugriff (PDF)
Npj genomic medicine, 2023-02, Vol.8 (1), p.4-4, Article 4
- Morimoto, Marie
- Bhambhani, Vikas
- Gazzaz, Nour
- Davids, Mariska
- Sathiyaseelan, Paalini
- Macnamara, Ellen F
- Lange, Jennifer
- Lehman, Anna
- Zerfas, Patricia M
- Murphy, Jennifer L
- Acosta, Maria T
- Wang, Camille
- Alderman, Emily
- Reichert, Sara
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- Adams, David R
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2023
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Scientific data, 2021-04, Vol.8 (1), p.114-114, Article 114
2021
Volltextzugriff (PDF)
Annals of clinical and translational neurology, 2023-06, Vol.10 (6), p.1046-1053
- Pujol‐Giménez, Jonai
- Miller, Danny E.
- Allworth, Aimee
- Chanprasert, Sirisak
- Folta, Andrew B.
- Hing, Anne
- Horike‐Pyne, Martha
- Leppig, Kathleen A.
- Parhin, Azma
- Rosenthal, Elisabeth A.
- Schwarze, Ulrike
- Strohbehn, Samuel
- Sybert, Virginia P.
- Timms, Andrew
- Wener, Mark
- Bamshad, Michael J.
- Bacus, Tamara J.
- Blue, Elizabeth E.
- Brower, Katherine
- Sánchez, Diana Cornejo
- Gomeztagle‐Burgess, Katherine
- Hurless, Jameson R.
- Shively, Kathryn M.
- Weiss, Jeffrey M.
- Wheeler, Marsha M.
- Adam, Margaret
- Alvey, Justin
- Amendola, Laura
- Andrews, Ashley
- Ashley, Euan A.
- Barbouth, Deborah
- Bejerano, Gill
- Bellen, Hugo J.
- Bennett, Jimmy
- Bivona, Stephanie
- Blue, Elizabeth
- Bonner, Devon
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- Chang, Ta Chen Peter
- Clark, Gary D.
- Cole, F. Sessions
- Corona, Rosario
- Crouse, Andrew B.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Emrick, Lisa T.
- Fisher, Paul G.
- Gahl, William A.
- Hadley, Don
- Hahn, Sihoun
- High, Frances
- Hisama, Fuki M.
- Hutchison, Sarah
- Izumi, Kosuke
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Lalani, Seema R.
- Lam, Byron
- Lanpher, Brendan C.
- Lewis, Richard A.
- Liu, Xue Zhong
- Maduro, Valerie V.
- Manolio, Teri A.
- McCauley, Jacob
- McCray, Alexa T.
- Mefford, Heather
- Moretti, Paolo
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Orengo, James P.
- Pak, Stephen
- Papp, Jeanette C.
- Parker, Neil H.
- Phillips, John A.
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Rosenfeld, Jill A.
- Saporta, Mario
- Schaechter, Judy
- Scott, Daryl A.
- Sisco, Kathy
- Spillmann, Rebecca C.
- Sullivan, Jennifer A.
- Tabor, Holly K.
- Tifft, Cynthia J.
- Ungar, Rachel A.
- Walker, Melissa
- Wambach, Jennifer
- Ward, Patricia A.
- Wegner, Daniel
- Yamamoto, Shinya
- Dipple, Katrina M.
- Stergachis, Andrew B.
2023
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