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American journal of human genetics, 2023-05, Vol.110 (5), p.774-789
- Tepe, Burak
- Cogne, Benjamin
- Neil, Jennifer E.
- Walsh, Christopher A.
- Magal, Nurit
- Drasinover, Valerie
- Schwab, Tanya
- Schmitz, Chris
- Clark, Karl
- Blanc, Pierre
- Bademci, Guney
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Bican, Anna
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Byers, Peter
- Byrd, William E.
- Carey, John
- Clark, Gary D.
- Coakley, Terra R.
- Colley, Heather A.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Deardorff, Matthew
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Emrick, Lisa T.
- Fernandez, Liliana
- Forghani, Irman
- Glass, Ian
- Gochuico, Bernadette
- Golden-Grant, Katie
- Goldrich, Madison P.
- Gutierrez, Irma
- Hamid, Rizwan
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- LeBlanc, Kimberly
- Levitt, Roy
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Merritt, J. Lawrence
- Morava, Eva
- Newman, John H.
- Nickerson, Deborah
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Palmer, Christina GS
- Papp, Jeanette C.
- Rao, Deepak A.
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, C. Ron
- Shin, Jimann
- Sinsheimer, Janet S.
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Telischi, Fred
- Toro, Camilo
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walker, Melissa
- Wangler, Michael F.
- Perry, Katherine Wesseling
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Zuchner, Stephan
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)
American journal of human genetics, 2024-03, Vol.111 (3), p.529-543
- Scala, Marcello
- Ferla, Matteo
- Fatemi, Ali
- Phillips, John A.
- Rio, Marlene
- Siquier, Karine
- Musante, Ilaria
- Baldassari, Simona
- Iacomino, Michele
- Acosta, Maria T.
- Allworth, Aimee
- Afzali, Ben
- Bademci, Guney
- Beck, Anita
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Botto, Lorenzo
- Brown, Gabrielle
- Carrasquillo, Olveen
- Chanprasert, Sirisak
- Chao, HsiaoTuan
- Chinn, Ivan
- Clark, Gary D.
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Fisher, Paul G.
- Fogel, Brent L.
- Gahl, William A.
- Glass, Ian
- Godfrey, Rena A.
- Grajewski, Alana
- Gropman, Andrea
- Halley, Meghan C.
- Hanchard, Neal
- Hassey, Kelly
- Hayes, Nichole
- Hom, Jason
- Huang, Alden
- Introne, Wendy
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Kilich, Gonench
- Kohler, Jennefer N.
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Loscalzo, Joseph
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo
- Morimoto, Marie
- Nakano-Okuno, Mariko
- Nieves-Rodriguez, Shirley
- Orengo, James P.
- Pace, Laura
- Parker, Neil H.
- Quinlan, Aaron
- Raper, Anna
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rossignol, Francis
- Saporta, Mario
- Schaechter, Judy
- Seto, Elaine
- Shelkowitz, Emily
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Sweetser, David A.
- Sybert, Virginia
- Tarakad, Arjun
- Velinder, Matt
- Viskochil, Dave
- Ward, Patricia A.
- Wegner, Daniel
- Weisz Hubshman, Monika
- Wener, Mark
- Wenger, Tara
- Reed, Sara
- Al Saif, Hind
- Walsh, Matthew B.
- Gustincich, Stefano
- Ruggiero, Sarah M.
- Fitzgerald, Mark P.
- Helbig, Ingo
- Severino, Mariasavina
2024
Volltextzugriff (PDF)
American journal of human genetics, 2023-08, Vol.110 (8), p.1414-1435
- Niggl, Eva
- Elgersma, Minetta
- Clayton-Smith, Jill
- Jain, Mahim
- Krantz, Ian
- Vetrini, Francesco
- Witt, Dennis
- Zhou, Dihong
- Arumugam, P.
- Boardman-Pretty, F.
- Brown, M.A.
- Chan, G.C.
- Henderson, S.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Maleady-Crowe, F.
- McEntagart, M.
- Minneci, F.
- O‘Donovan, P.
- Pereira, M.B.
- Rahim, T.
- Savage, K.
- Sawant, K.
- Smith, S.C.
- Sosinsky, A.
- Tucci, A.
- Williams, E.
- Alvey, Justin
- Andrews, Ashley
- Baldridge, Dustin
- Bale, Jim
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Bejerano, Gill
- Bican, Anna
- Bivona, Stephanie
- Bonner, Devon
- Burke, Elizabeth A.
- Chang, Ta Chen
- Chanprasert, Sirisak
- Chao, Hsiao-Tuan
- Clark, Gary D.
- Corona, Rosario
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Fisher, Paul G.
- Fu, Jiayu
- Gahl, William A.
- Hamid, Rizwan
- Hassey, Kelly
- Huang, Yan
- Introne, Wendy
- Izumi, Kosuke
- Jean-Marie, Orpa
- Kaitryn, Emerald
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Kohane, Isaac S.
- Krakow, Deborah
- Lewis, Richard A.
- Loscalzo, Joseph
- Maghiro, AudreyStephannie
- Mahoney, Rachel
- Mao, Rong
- Marth, Gabor
- McCauley, Jacob
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- McGee, Elisabeth
- Mirzaa, Ghayda
- Morava, Eva
- Morimoto, Marie
- Nelson, Stanley F.
- Novacic, Donna
- Posey, Jennifer E.
- Potocki, Lorraine
- Swerdzewski, Barbara N.
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Schaechter, Judy
- Shashi, Vandana
- Shin, Jimann
- Sinsheimer, Janet
- Solnica-Krezel, Lilianna
- Sullivan, Kathleen
- Tan, Amelia L.
- Tarakad, Arjun
- Telischi, Fred
- Urv, Tiina K.
- Wahl, Colleen E.
- Wan, Jijun
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)
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- Genetics & Heredity
- Humans
- Intellectual Disability
- Intellectual Disability - Genetics
- Life Sciences & Biomedicine
- Science & Technology
- Animals
- Neurodevelopmental Disorder
- Neurodevelopmental Disorders - Genetics
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- Developmental Delay
- Drosophila
- Drosophila Proteins - Genetics
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- Alternative Splicing - Genetics
- Animals, Genetically Modified
- Brain - Metabolism