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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. [electronic resource] by
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- Perez-Palma, Eduardo
- Samocha, Kaitlin E
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- Robinson, Elise B
- Møller, Rikke S
- Krause, Roland
- Nürnberg, Peter
- Weckhuysen, Sarah
- De Jonghe, Peter
- Guerrini, Renzo
- Niestroj, Lisa M
- Du, Juliana
- Marini, Carla
- Ware, James S
- Kurki, Mitja
- Gormley, Padhraig
- Tang, Sha
- Wu, Sitao
- Biskup, Saskia
- Poduri, Annapurna
- Neubauer, Bernd A
- Koeleman, Bobby P C
- Helbig, Katherine L
- Weber, Yvonne G
- Helbig, Ingo
- Majithia, Amit R
- Palotie, Aarno
- Daly, Mark J
Producer: 20210104
In:
Genome medicine vol. 12
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22.
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. [electronic resource] by
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- Nagaswamy, Uma
- Stevens, Christine
- Lim, Elaine
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- Muzny, Donna
- Reid, Jeffrey G
- Banks, Eric
- Coon, Hillary
- Depristo, Mark
- Dinh, Huyen
- Fennel, Tim
- Flannick, Jason
- Gabriel, Stacey
- Garimella, Kiran
- Gross, Shannon
- Hawes, Alicia
- Lewis, Lora
- Makarov, Vladimir
- Maguire, Jared
- Newsham, Irene
- Poplin, Ryan
- Ripke, Stephan
- Shakir, Khalid
- Samocha, Kaitlin E
- Wu, Yuanqing
- Boerwinkle, Eric
- Buxbaum, Joseph D
- Cook, Edwin H
- Devlin, Bernie
- Schellenberg, Gerard D
- Sutcliffe, James S
- Daly, Mark J
- Gibbs, Richard A
- Roeder, Kathryn
Producer: 20130625
In:
PLoS genetics vol. 9
Availability: No items available.
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. [electronic resource] by
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- Zaidi, Samir
- Shen, Yufeng
- Ware, James S
- Samocha, Kaitlin E
- Karczewski, Konrad J
- DePalma, Steven R
- McKean, David
- Wakimoto, Hiroko
- Gorham, Josh
- Jin, Sheng Chih
- Deanfield, John
- Giardini, Alessandro
- Porter, George A
- Kim, Richard
- Bilguvar, Kaya
- López-Giráldez, Francesc
- Tikhonova, Irina
- Mane, Shrikant
- Romano-Adesman, Angela
- Qi, Hongjian
- Vardarajan, Badri
- Ma, Lijiang
- Daly, Mark
- Roberts, Amy E
- Russell, Mark W
- Mital, Seema
- Newburger, Jane W
- Gaynor, J William
- Breitbart, Roger E
- Iossifov, Ivan
- Ronemus, Michael
- Sanders, Stephan J
- Kaltman, Jonathan R
- Seidman, Jonathan G
- Brueckner, Martina
- Gelb, Bruce D
- Goldmuntz, Elizabeth
- Lifton, Richard P
- Seidman, Christine E
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Producer: 20160202
In:
Science (New York, N.Y.) vol. 350
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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. [electronic resource] by
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- Zhao, Wei
- Rasheed, Asif
- Khetarpal, Sumeet A
- Won, Hong-Hee
- Karczewski, Konrad J
- O'Donnell-Luria, Anne H
- Samocha, Kaitlin E
- Weisburd, Benjamin
- Gupta, Namrata
- Zaidi, Mozzam
- Samuel, Maria
- Imran, Atif
- Abbas, Shahid
- Majeed, Faisal
- Ishaq, Madiha
- Akhtar, Saba
- Trindade, Kevin
- Mucksavage, Megan
- Qamar, Nadeem
- Zaman, Khan Shah
- Yaqoob, Zia
- Saghir, Tahir
- Rizvi, Syed Nadeem Hasan
- Memon, Anis
- Hayyat Mallick, Nadeem
- Ishaq, Mohammad
- Rasheed, Syed Zahed
- Memon, Fazal-Ur-Rehman
- Mahmood, Khalid
- Ahmed, Naveeduddin
- Do, Ron
- Krauss, Ronald M
- MacArthur, Daniel G
- Gabriel, Stacey
- Lander, Eric S
- Daly, Mark J
- Frossard, Philippe
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Producer: 20170822
In:
Nature vol. 544
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. [electronic resource] by
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- Oliver, Karen L
- Maljevic, Snezana
- Bayly, Marta A
- Joensuu, Tarja
- Canafoglia, Laura
- Franceschetti, Silvana
- Michelucci, Roberto
- Markkinen, Salla
- Heron, Sarah E
- Hildebrand, Michael S
- Andermann, Eva
- Andermann, Frederick
- Gambardella, Antonio
- Tinuper, Paolo
- Licchetta, Laura
- Scheffer, Ingrid E
- Criscuolo, Chiara
- Filla, Alessandro
- Ferlazzo, Edoardo
- Ahmad, Jamil
- Ahmad, Adeel
- Baykan, Betul
- Said, Edith
- Topcu, Meral
- Riguzzi, Patrizia
- King, Mary D
- Ozkara, Cigdem
- Andrade, Danielle M
- Engelsen, Bernt A
- Crespel, Arielle
- Lindenau, Matthias
- Lohmann, Ebba
- Saletti, Veronica
- Massano, João
- Privitera, Michael
- Espay, Alberto J
- Kauffmann, Birgit
- Duchowny, Michael
- Møller, Rikke S
- Straussberg, Rachel
- Afawi, Zaid
- Ben-Zeev, Bruria
- Samocha, Kaitlin E
- Daly, Mark J
- Petrou, Steven
- Lerche, Holger
- Palotie, Aarno
- Lehesjoki, Anna-Elina
Producer: 20150311
In:
Nature genetics vol. 47
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. [electronic resource] by
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- Willsey, A Jeremy
- Ercan-Sencicek, A Gulhan
- Samocha, Kaitlin E
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- Murtha, Michael T
- Bal, Vanessa H
- Bishop, Somer L
- Dong, Shan
- Goldberg, Arthur P
- Jinlu, Cai
- Keaney, John F
- Klei, Lambertus
- Mandell, Jeffrey D
- Moreno-De-Luca, Daniel
- Poultney, Christopher S
- Robinson, Elise B
- Smith, Louw
- Solli-Nowlan, Tor
- Su, Mack Y
- Teran, Nicole A
- Walker, Michael F
- Werling, Donna M
- Beaudet, Arthur L
- Cantor, Rita M
- Fombonne, Eric
- Geschwind, Daniel H
- Grice, Dorothy E
- Lord, Catherine
- Lowe, Jennifer K
- Mane, Shrikant M
- Martin, Donna M
- Morrow, Eric M
- Talkowski, Michael E
- Sutcliffe, James S
- Walsh, Christopher A
- Yu, Timothy W
- Ledbetter, David H
- Martin, Christa Lese
- Cook, Edwin H
- Buxbaum, Joseph D
- Daly, Mark J
- Devlin, Bernie
- Roeder, Kathryn
- State, Matthew W
Producer: 20151230
In:
Neuron vol. 87
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27.
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. [electronic resource] by
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- Kou, Yan
- Liu, Li
- Ma'ayan, Avi
- Samocha, Kaitlin E
- Sabo, Aniko
- Lin, Chiao-Feng
- Stevens, Christine
- Wang, Li-San
- Makarov, Vladimir
- Polak, Paz
- Yoon, Seungtai
- Maguire, Jared
- Crawford, Emily L
- Campbell, Nicholas G
- Geller, Evan T
- Valladares, Otto
- Schafer, Chad
- Liu, Han
- Zhao, Tuo
- Cai, Guiqing
- Lihm, Jayon
- Dannenfelser, Ruth
- Jabado, Omar
- Peralta, Zuleyma
- Nagaswamy, Uma
- Muzny, Donna
- Reid, Jeffrey G
- Newsham, Irene
- Wu, Yuanqing
- Lewis, Lora
- Han, Yi
- Voight, Benjamin F
- Lim, Elaine
- Rossin, Elizabeth
- Kirby, Andrew
- Flannick, Jason
- Fromer, Menachem
- Shakir, Khalid
- Fennell, Tim
- Garimella, Kiran
- Banks, Eric
- Poplin, Ryan
- Gabriel, Stacey
- DePristo, Mark
- Wimbish, Jack R
- Boone, Braden E
- Levy, Shawn E
- Betancur, Catalina
- Sunyaev, Shamil
- Boerwinkle, Eric
- Buxbaum, Joseph D
- Cook, Edwin H
- Devlin, Bernie
- Gibbs, Richard A
- Roeder, Kathryn
- Schellenberg, Gerard D
- Sutcliffe, James S
- Daly, Mark J
Producer: 20120625
In:
Nature vol. 485
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Quantifying prion disease penetrance using large population control cohorts. [electronic resource] by
- Minikel, Eric Vallabh
- Vallabh, Sonia M
- Lek, Monkol
- Estrada, Karol
- Samocha, Kaitlin E
- Sathirapongsasuti, J Fah
- McLean, Cory Y
- Tung, Joyce Y
- Yu, Linda P C
- Gambetti, Pierluigi
- Blevins, Janis
- Zhang, Shulin
- Cohen, Yvonne
- Chen, Wei
- Yamada, Masahito
- Hamaguchi, Tsuyoshi
- Sanjo, Nobuo
- Mizusawa, Hidehiro
- Nakamura, Yosikazu
- Kitamoto, Tetsuyuki
- Collins, Steven J
- Boyd, Alison
- Will, Robert G
- Knight, Richard
- Ponto, Claudia
- Zerr, Inga
- Kraus, Theo F J
- Eigenbrod, Sabina
- Giese, Armin
- Calero, Miguel
- de Pedro-Cuesta, Jesús
- Haïk, Stéphane
- Laplanche, Jean-Louis
- Bouaziz-Amar, Elodie
- Brandel, Jean-Philippe
- Capellari, Sabina
- Parchi, Piero
- Poleggi, Anna
- Ladogana, Anna
- O'Donnell-Luria, Anne H
- Karczewski, Konrad J
- Marshall, Jamie L
- Boehnke, Michael
- Laakso, Markku
- Mohlke, Karen L
- Kähler, Anna
- Chambert, Kimberly
- McCarroll, Steven
- Sullivan, Patrick F
- Hultman, Christina M
- Purcell, Shaun M
- Sklar, Pamela
- van der Lee, Sven J
- Rozemuller, Annemieke
- Jansen, Casper
- Hofman, Albert
- Kraaij, Robert
- van Rooij, Jeroen G J
- Ikram, M Arfan
- Uitterlinden, André G
- van Duijn, Cornelia M
- Daly, Mark J
- MacArthur, Daniel G
Producer: 20161017
In:
Science translational medicine vol. 8
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Analysis of protein-coding genetic variation in 60,706 humans. [electronic resource] by
- Lek, Monkol
- Karczewski, Konrad J
- Minikel, Eric V
- Samocha, Kaitlin E
- Banks, Eric
- Fennell, Timothy
- O'Donnell-Luria, Anne H
- Ware, James S
- Hill, Andrew J
- Cummings, Beryl B
- Tukiainen, Taru
- Birnbaum, Daniel P
- Kosmicki, Jack A
- Duncan, Laramie E
- Estrada, Karol
- Zhao, Fengmei
- Zou, James
- Pierce-Hoffman, Emma
- Berghout, Joanne
- Cooper, David N
- Deflaux, Nicole
- DePristo, Mark
- Do, Ron
- Flannick, Jason
- Fromer, Menachem
- Gauthier, Laura
- Goldstein, Jackie
- Gupta, Namrata
- Howrigan, Daniel
- Kiezun, Adam
- Kurki, Mitja I
- Moonshine, Ami Levy
- Natarajan, Pradeep
- Orozco, Lorena
- Peloso, Gina M
- Poplin, Ryan
- Rivas, Manuel A
- Ruano-Rubio, Valentin
- Rose, Samuel A
- Ruderfer, Douglas M
- Shakir, Khalid
- Stenson, Peter D
- Stevens, Christine
- Thomas, Brett P
- Tiao, Grace
- Tusie-Luna, Maria T
- Weisburd, Ben
- Won, Hong-Hee
- Yu, Dongmei
- Altshuler, David M
- Ardissino, Diego
- Boehnke, Michael
- Danesh, John
- Donnelly, Stacey
- Elosua, Roberto
- Florez, Jose C
- Gabriel, Stacey B
- Getz, Gad
- Glatt, Stephen J
- Hultman, Christina M
- Kathiresan, Sekar
- Laakso, Markku
- McCarroll, Steven
- McCarthy, Mark I
- McGovern, Dermot
- McPherson, Ruth
- Neale, Benjamin M
- Palotie, Aarno
- Purcell, Shaun M
- Saleheen, Danish
- Scharf, Jeremiah M
- Sklar, Pamela
- Sullivan, Patrick F
- Tuomilehto, Jaakko
- Tsuang, Ming T
- Watkins, Hugh C
- Wilson, James G
- Daly, Mark J
- MacArthur, Daniel G
Producer: 20160913
In:
Nature vol. 536
Availability: No items available.
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30.
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High-throughput discovery of novel developmental phenotypes. [electronic resource] by
- Dickinson, Mary E
- Flenniken, Ann M
- Ji, Xiao
- Teboul, Lydia
- Wong, Michael D
- White, Jacqueline K
- Meehan, Terrence F
- Weninger, Wolfgang J
- Westerberg, Henrik
- Adissu, Hibret
- Baker, Candice N
- Bower, Lynette
- Brown, James M
- Caddle, L Brianna
- Chiani, Francesco
- Clary, Dave
- Cleak, James
- Daly, Mark J
- Denegre, James M
- Doe, Brendan
- Dolan, Mary E
- Edie, Sarah M
- Fuchs, Helmut
- Gailus-Durner, Valerie
- Galli, Antonella
- Gambadoro, Alessia
- Gallegos, Juan
- Guo, Shiying
- Horner, Neil R
- Hsu, Chih-Wei
- Johnson, Sara J
- Kalaga, Sowmya
- Keith, Lance C
- Lanoue, Louise
- Lawson, Thomas N
- Lek, Monkol
- Mark, Manuel
- Marschall, Susan
- Mason, Jeremy
- McElwee, Melissa L
- Newbigging, Susan
- Nutter, Lauryl M J
- Peterson, Kevin A
- Ramirez-Solis, Ramiro
- Rowland, Douglas J
- Ryder, Edward
- Samocha, Kaitlin E
- Seavitt, John R
- Selloum, Mohammed
- Szoke-Kovacs, Zsombor
- Tamura, Masaru
- Trainor, Amanda G
- Tudose, Ilinca
- Wakana, Shigeharu
- Warren, Jonathan
- Wendling, Olivia
- West, David B
- Wong, Leeyean
- Yoshiki, Atsushi
- MacArthur, Daniel G
- Tocchini-Valentini, Glauco P
- Gao, Xiang
- Flicek, Paul
- Bradley, Allan
- Skarnes, William C
- Justice, Monica J
- Parkinson, Helen E
- Moore, Mark
- Wells, Sara
- Braun, Robert E
- Svenson, Karen L
- de Angelis, Martin Hrabe
- Herault, Yann
- Mohun, Tim
- Mallon, Ann-Marie
- Henkelman, R Mark
- Brown, Steve D M
- Adams, David J
- Lloyd, K C Kent
- McKerlie, Colin
- Beaudet, Arthur L
- Bućan, Maja
- Murray, Stephen A
Producer: 20170220
In:
Nature vol. 537
Availability: No items available.
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31.
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Corrigendum: High-throughput discovery of novel developmental phenotypes. [electronic resource] by
- Dickinson, Mary E
- Flenniken, Ann M
- Ji, Xiao
- Teboul, Lydia
- Wong, Michael D
- White, Jacqueline K
- Meehan, Terrence F
- Weninger, Wolfgang J
- Westerberg, Henrik
- Adissu, Hibret
- Baker, Candice N
- Bower, Lynette
- Brown, James M
- Caddle, L Brianna
- Chiani, Francesco
- Clary, Dave
- Cleak, James
- Daly, Mark J
- Denegre, James M
- Doe, Brendan
- Dolan, Mary E
- Edie Helmut Fuchs, Sarah M
- Gailus-Durner, Valerie
- Galli, Antonella
- Gambadoro, Alessia
- Gallegos, Juan
- Guo, Shiying
- Horner, Neil R
- Hsu, Chih-Wei
- Johnson, Sara J
- Kalaga, Sowmya
- Keith, Lance C
- Lanoue, Louise
- Lawson, Thomas N
- Lek, Monkol
- Mark, Manuel
- Marschall, Susan
- Mason, Jeremy
- McElwee, Melissa L
- Nutter, Susan Newbigging Lauryl M J
- Peterson, Kevin A
- Ramirez-Solis, Ramiro
- Rowland, Douglas J
- Ryder, Edward
- Samocha, Kaitlin E
- Seavitt, John R
- Selloum, Mohammed
- Szoke-Kovacs, Zsombor
- Tamura, Masaru
- Trainor, Amanda G
- Tudose, Ilinca
- Wakana, Shigeharu
- Warren, Jonathan
- Wendling, Olivia
- West, David B
- Wong, Leeyean
- Yoshiki, Atsushi
- Wurst, Wolfgang
- MacArthur, Daniel G
- Tocchini-Valentini, Glauco P
- Gao, Xiang
- Flicek, Paul
- Bradley, Allan
- Skarnes, William C
- Justice, Monica J
- Parkinson, Helen E
- Moore, Mark
- Wells, Sara
- Braun, Robert E
- Svenson, Karen L
- de Angelis, Martin Hrabe
- Herault, Yann
- Mohun, Tim
- Mallon, Ann-Marie
- Henkelman, R Mark
- Brown, Steve D M
- Adams, David J
- Lloyd, K C Kent
- McKerlie, Colin
- Beaudet, Arthur L
- Murray, Maja Bućan Stephen A
Publication details: Nature 11 2017
In:
Nature vol. 551
Availability: No items available.
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