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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. [electronic resource] by
- Ruderfer, Douglas M
- Hamamsy, Tymor
- Lek, Monkol
- Karczewski, Konrad J
- Kavanagh, David
- Samocha, Kaitlin E
- Daly, Mark J
- MacArthur, Daniel G
- Fromer, Menachem
- Purcell, Shaun M
Producer: 20170623
In:
Nature genetics vol. 48
Availability: No items available.
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7.
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Reply to 'Selective effects of heterozygous protein-truncating variants'. [electronic resource] by
- Cassa, Christopher A
- Weghorn, Donate
- Balick, Daniel J
- Jordan, Daniel M
- Nusinow, David
- Samocha, Kaitlin E
- O'Donnell-Luria, Anne
- MacArthur, Daniel G
- Daly, Mark J
- Beier, David R
- Sunyaev, Shamil R
Producer: 20190416
In:
Nature genetics vol. 51
Availability: No items available.
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8.
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Estimating the selective effects of heterozygous protein-truncating variants from human exome data. [electronic resource] by
- Cassa, Christopher A
- Weghorn, Donate
- Balick, Daniel J
- Jordan, Daniel M
- Nusinow, David
- Samocha, Kaitlin E
- O'Donnell-Luria, Anne
- MacArthur, Daniel G
- Daly, Mark J
- Beier, David R
- Sunyaev, Shamil R
Producer: 20170918
In:
Nature genetics vol. 49
Availability: No items available.
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9.
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A framework for the detection of de novo mutations in family-based sequencing data. [electronic resource] by
- Francioli, Laurent C
- Cretu-Stancu, Mircea
- Garimella, Kiran V
- Fromer, Menachem
- Kloosterman, Wigard P
- Samocha, Kaitlin E
- Neale, Benjamin M
- Daly, Mark J
- Banks, Eric
- DePristo, Mark A
- de Bakker, Paul Iw
Producer: 20170705
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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10.
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The ExAC browser: displaying reference data information from over 60 000 exomes. [electronic resource] by
- Karczewski, Konrad J
- Weisburd, Ben
- Thomas, Brett
- Solomonson, Matthew
- Ruderfer, Douglas M
- Kavanagh, David
- Hamamsy, Tymor
- Lek, Monkol
- Samocha, Kaitlin E
- Cummings, Beryl B
- Birnbaum, Daniel
- Daly, Mark J
- MacArthur, Daniel G
Producer: 20170615
In:
Nucleic acids research vol. 45
Availability: No items available.
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11.
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The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. [electronic resource] by
- Grimm, Dominik G
- Azencott, Chloé-Agathe
- Aicheler, Fabian
- Gieraths, Udo
- MacArthur, Daniel G
- Samocha, Kaitlin E
- Cooper, David N
- Stenson, Peter D
- Daly, Mark J
- Smoller, Jordan W
- Duncan, Laramie E
- Borgwardt, Karsten M
Producer: 20160112
In:
Human mutation vol. 36
Availability: No items available.
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12.
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Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross. [electronic resource] by
- Norgard, Elizabeth A
- Jarvis, Joseph P
- Roseman, Charles C
- Maxwell, Taylor J
- Kenney-Hunt, Jane P
- Samocha, Kaitlin E
- Pletscher, L Susan
- Wang, Bing
- Fawcett, Gloria L
- Leatherwood, Christopher J
- Wolf, Jason B
- Cheverud, James M
Producer: 20090526
In:
Mammalian genome : official journal of the International Mammalian Genome Society vol. 20
Availability: No items available.
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13.
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. [electronic resource] by
- Kosmicki, Jack A
- Samocha, Kaitlin E
- Howrigan, Daniel P
- Sanders, Stephan J
- Slowikowski, Kamil
- Lek, Monkol
- Karczewski, Konrad J
- Cutler, David J
- Devlin, Bernie
- Roeder, Kathryn
- Buxbaum, Joseph D
- Neale, Benjamin M
- MacArthur, Daniel G
- Wall, Dennis P
- Robinson, Elise B
- Daly, Mark J
Producer: 20170905
In:
Nature genetics vol. 49
Availability: No items available.
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14.
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Contribution of retrotransposition to developmental disorders. [electronic resource] by
- Gardner, Eugene J
- Prigmore, Elena
- Gallone, Giuseppe
- Danecek, Petr
- Samocha, Kaitlin E
- Handsaker, Juliet
- Gerety, Sebastian S
- Ironfield, Holly
- Short, Patrick J
- Sifrim, Alejandro
- Singh, Tarjinder
- Chandler, Kate E
- Clement, Emma
- Lachlan, Katherine L
- Prescott, Katrina
- Rosser, Elisabeth
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
Producer: 20200204
In:
Nature communications vol. 10
Availability: No items available.
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15.
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De Novo Coding Variants Are Strongly Associated with Tourette Disorder. [electronic resource] by
- Willsey, A Jeremy
- Fernandez, Thomas V
- Yu, Dongmei
- King, Robert A
- Dietrich, Andrea
- Xing, Jinchuan
- Sanders, Stephan J
- Mandell, Jeffrey D
- Huang, Alden Y
- Richer, Petra
- Smith, Louw
- Dong, Shan
- Samocha, Kaitlin E
- Neale, Benjamin M
- Coppola, Giovanni
- Mathews, Carol A
- Tischfield, Jay A
- Scharf, Jeremiah M
- State, Matthew W
- Heiman, Gary A
Producer: 20170727
In:
Neuron vol. 94
Availability: No items available.
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16.
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A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling. [electronic resource] by
- Patterson, Heide Christine
- Gerbeth, Carolin
- Thiru, Prathapan
- Vögtle, Nora F
- Knoll, Marko
- Shahsafaei, Aliakbar
- Samocha, Kaitlin E
- Huang, Cher X
- Harden, Mark Michael
- Song, Rui
- Chen, Cynthia
- Kao, Jennifer
- Shi, Jiahai
- Salmon, Wendy
- Shaul, Yoav D
- Stokes, Matthew P
- Silva, Jeffrey C
- Bell, George W
- MacArthur, Daniel G
- Ruland, Jürgen
- Meisinger, Chris
- Lodish, Harvey F
Producer: 20160209
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 112
Availability: No items available.
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17.
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. [electronic resource] by
- Robinson, Elise B
- St Pourcain, Beate
- Anttila, Verneri
- Kosmicki, Jack A
- Bulik-Sullivan, Brendan
- Grove, Jakob
- Maller, Julian
- Samocha, Kaitlin E
- Sanders, Stephan J
- Ripke, Stephan
- Martin, Joanna
- Hollegaard, Mads V
- Werge, Thomas
- Hougaard, David M
- Neale, Benjamin M
- Evans, David M
- Skuse, David
- Mortensen, Preben Bo
- Børglum, Anders D
- Ronald, Angelica
- Smith, George Davey
- Daly, Mark J
Producer: 20170530
In:
Nature genetics vol. 48
Availability: No items available.
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18.
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. [electronic resource] by
- Weiner, Daniel J
- Wigdor, Emilie M
- Ripke, Stephan
- Walters, Raymond K
- Kosmicki, Jack A
- Grove, Jakob
- Samocha, Kaitlin E
- Goldstein, Jacqueline I
- Okbay, Aysu
- Bybjerg-Grauholm, Jonas
- Werge, Thomas
- Hougaard, David M
- Taylor, Jacob
- Skuse, David
- Devlin, Bernie
- Anney, Richard
- Sanders, Stephan J
- Bishop, Somer
- Mortensen, Preben Bo
- Børglum, Anders D
- Smith, George Davey
- Daly, Mark J
- Robinson, Elise B
Producer: 20171004
In:
Nature genetics vol. 49
Availability: No items available.
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19.
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Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. [electronic resource] by
- Howrigan, Daniel P
- Rose, Samuel A
- Samocha, Kaitlin E
- Fromer, Menachem
- Cerrato, Felecia
- Chen, Wei J
- Churchhouse, Claire
- Chambert, Kimberly
- Chandler, Sharon D
- Daly, Mark J
- Dumont, Ashley
- Genovese, Giulio
- Hwu, Hai-Gwo
- Laird, Nan
- Kosmicki, Jack A
- Moran, Jennifer L
- Roe, Cheryl
- Singh, Tarjinder
- Wang, Shi-Heng
- Faraone, Stephen V
- Glatt, Stephen J
- McCarroll, Steven A
- Tsuang, Ming
- Neale, Benjamin M
Producer: 20200413
In:
Nature neuroscience vol. 23
Availability: No items available.
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20.
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A framework for the interpretation of de novo mutation in human disease. [electronic resource] by
- Samocha, Kaitlin E
- Robinson, Elise B
- Sanders, Stephan J
- Stevens, Christine
- Sabo, Aniko
- McGrath, Lauren M
- Kosmicki, Jack A
- Rehnström, Karola
- Mallick, Swapan
- Kirby, Andrew
- Wall, Dennis P
- MacArthur, Daniel G
- Gabriel, Stacey B
- DePristo, Mark
- Purcell, Shaun M
- Palotie, Aarno
- Boerwinkle, Eric
- Buxbaum, Joseph D
- Cook, Edwin H
- Gibbs, Richard A
- Schellenberg, Gerard D
- Sutcliffe, James S
- Devlin, Bernie
- Roeder, Kathryn
- Neale, Benjamin M
- Daly, Mark J
Producer: 20150115
In:
Nature genetics vol. 46
Availability: No items available.
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