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A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. [electronic resource] by
- Lincoln, Stephen E
- Truty, Rebecca
- Lin, Chiao-Feng
- Zook, Justin M
- Paul, Joshua
- Ramey, Vincent H
- Salit, Marc
- Rehm, Heidi L
- Nussbaum, Robert L
- Lebo, Matthew S
Producer: 20200622
In:
The Journal of molecular diagnostics : JMD vol. 21
Availability: No items available.
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13.
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Assessing predictions of the impact of variants on splicing in CAGI5. [electronic resource] by
- Mount, Stephen M
- Avsec, Žiga
- Carmel, Liran
- Casadio, Rita
- Çelik, Muhammed Hasan
- Chen, Ken
- Cheng, Jun
- Cohen, Noa E
- Fairbrother, William G
- Fenesh, Tzila
- Gagneur, Julien
- Gotea, Valer
- Holzer, Tamar
- Lin, Chiao-Feng
- Martelli, Pier Luigi
- Naito, Tatsuhiko
- Nguyen, Thi Yen Duong
- Savojardo, Castrense
- Unger, Ron
- Wang, Robert
- Yang, Yuedong
- Zhao, Huiying
Producer: 20200313
In:
Human mutation vol. 40
Availability: No items available.
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14.
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. [electronic resource] by
- Lim, Elaine T
- Raychaudhuri, Soumya
- Sanders, Stephan J
- Stevens, Christine
- Sabo, Aniko
- MacArthur, Daniel G
- Neale, Benjamin M
- Kirby, Andrew
- Ruderfer, Douglas M
- Fromer, Menachem
- Lek, Monkol
- Liu, Li
- Flannick, Jason
- Ripke, Stephan
- Nagaswamy, Uma
- Muzny, Donna
- Reid, Jeffrey G
- Hawes, Alicia
- Newsham, Irene
- Wu, Yuanqing
- Lewis, Lora
- Dinh, Huyen
- Gross, Shannon
- Wang, Li-San
- Lin, Chiao-Feng
- Valladares, Otto
- Gabriel, Stacey B
- dePristo, Mark
- Altshuler, David M
- Purcell, Shaun M
- State, Matthew W
- Boerwinkle, Eric
- Buxbaum, Joseph D
- Cook, Edwin H
- Gibbs, Richard A
- Schellenberg, Gerard D
- Sutcliffe, James S
- Devlin, Bernie
- Roeder, Kathryn
- Daly, Mark J
Producer: 20130322
In:
Neuron vol. 77
Availability: No items available.
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15.
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Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. [electronic resource] by
- Reitz, Christiane
- Jun, Gyungah
- Naj, Adam
- Rajbhandary, Ruchita
- Vardarajan, Badri Narayan
- Wang, Li-San
- Valladares, Otto
- Lin, Chiao-Feng
- Larson, Eric B
- Graff-Radford, Neill R
- Evans, Denis
- De Jager, Philip L
- Crane, Paul K
- Buxbaum, Joseph D
- Murrell, Jill R
- Raj, Towfique
- Ertekin-Taner, Nilufer
- Logue, Mark
- Baldwin, Clinton T
- Green, Robert C
- Barnes, Lisa L
- Cantwell, Laura B
- Fallin, M Daniele
- Go, Rodney C P
- Griffith, Patrick
- Obisesan, Thomas O
- Manly, Jennifer J
- Lunetta, Kathryn L
- Kamboh, M Ilyas
- Lopez, Oscar L
- Bennett, David A
- Hendrie, Hugh
- Hall, Kathleen S
- Goate, Alison M
- Byrd, Goldie S
- Kukull, Walter A
- Foroud, Tatiana M
- Haines, Jonathan L
- Farrer, Lindsay A
- Pericak-Vance, Margaret A
- Schellenberg, Gerard D
- Mayeux, Richard
Producer: 20130411
In:
JAMA vol. 309
Availability: No items available.
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16.
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Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. [electronic resource] by
- Ghani, Mahdi
- Reitz, Christiane
- Cheng, Rong
- Vardarajan, Badri Narayan
- Jun, Gyungah
- Sato, Christine
- Naj, Adam
- Rajbhandary, Ruchita
- Wang, Li-San
- Valladares, Otto
- Lin, Chiao-Feng
- Larson, Eric B
- Graff-Radford, Neill R
- Evans, Denis
- De Jager, Philip L
- Crane, Paul K
- Buxbaum, Joseph D
- Murrell, Jill R
- Raj, Towfique
- Ertekin-Taner, Nilufer
- Logue, Mark
- Baldwin, Clinton T
- Green, Robert C
- Barnes, Lisa L
- Cantwell, Laura B
- Fallin, M Daniele
- Go, Rodney C P
- Griffith, Patrick A
- Obisesan, Thomas O
- Manly, Jennifer J
- Lunetta, Kathryn L
- Kamboh, M Ilyas
- Lopez, Oscar L
- Bennett, David A
- Hendrie, Hugh
- Hall, Kathleen S
- Goate, Alison M
- Byrd, Goldie S
- Kukull, Walter A
- Foroud, Tatiana M
- Haines, Jonathan L
- Farrer, Lindsay A
- Pericak-Vance, Margaret A
- Lee, Joseph H
- Schellenberg, Gerard D
- St George-Hyslop, Peter
- Mayeux, Richard
- Rogaeva, Ekaterina
Producer: 20160311
In:
JAMA neurology vol. 72
Availability: No items available.
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17.
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. [electronic resource] by
- Neale, Benjamin M
- 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
Availability: No items available.
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18.
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Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. [electronic resource] by
- Hohman, Timothy J
- Cooke-Bailey, Jessica N
- Reitz, Christiane
- Jun, Gyungah
- Naj, Adam
- Beecham, Gary W
- Liu, Zhi
- Carney, Regina M
- Vance, Jeffrey M
- Cuccaro, Michael L
- Rajbhandary, Ruchita
- Vardarajan, Badri Narayan
- Wang, Li-San
- Valladares, Otto
- Lin, Chiao-Feng
- Larson, Eric B
- Graff-Radford, Neill R
- Evans, Denis
- De Jager, Philip L
- Crane, Paul K
- Buxbaum, Joseph D
- Murrell, Jill R
- Raj, Towfique
- Ertekin-Taner, Nilufer
- Logue, Mark W
- Baldwin, Clinton T
- Green, Robert C
- Barnes, Lisa L
- Cantwell, Laura B
- Fallin, M Daniele
- Go, Rodney C P
- Griffith, Patrick
- Obisesan, Thomas O
- Manly, Jennifer J
- Lunetta, Kathryn L
- Kamboh, M Ilyas
- Lopez, Oscar L
- Bennett, David A
- Hardy, John
- Hendrie, Hugh C
- Hall, Kathleen S
- Goate, Alison M
- Lang, Rosalyn
- Byrd, Goldie S
- Kukull, Walter A
- Foroud, Tatiana M
- Farrer, Lindsay A
- Martin, Eden R
- Pericak-Vance, Margaret A
- Schellenberg, Gerard D
- Mayeux, Richard
- Haines, Jonathan L
- Thornton-Wells, Tricia A
Producer: 20161215
In:
Alzheimer's & dementia : the journal of the Alzheimer's Association vol. 12
Availability: No items available.
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19.
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Synaptic, transcriptional and chromatin genes disrupted in autism. [electronic resource] by
- De Rubeis, Silvia
- He, Xin
- Goldberg, Arthur P
- Poultney, Christopher S
- Samocha, Kaitlin
- Cicek, A Erucment
- Kou, Yan
- Liu, Li
- Fromer, Menachem
- Walker, Susan
- Singh, Tarinder
- Klei, Lambertus
- Kosmicki, Jack
- Shih-Chen, Fu
- Aleksic, Branko
- Biscaldi, Monica
- Bolton, Patrick F
- Brownfeld, Jessica M
- Cai, Jinlu
- Campbell, Nicholas G
- Carracedo, Angel
- Chahrour, Maria H
- Chiocchetti, Andreas G
- Coon, Hilary
- Crawford, Emily L
- Curran, Sarah R
- Dawson, Geraldine
- Duketis, Eftichia
- Fernandez, Bridget A
- Gallagher, Louise
- Geller, Evan
- Guter, Stephen J
- Hill, R Sean
- Ionita-Laza, Juliana
- Jimenz Gonzalez, Patricia
- Kilpinen, Helena
- Klauck, Sabine M
- Kolevzon, Alexander
- Lee, Irene
- Lei, Irene
- Lei, Jing
- Lehtimäki, Terho
- Lin, Chiao-Feng
- Ma'ayan, Avi
- Marshall, Christian R
- McInnes, Alison L
- Neale, Benjamin
- Owen, Michael J
- Ozaki, Noriio
- Parellada, Mara
- Parr, Jeremy R
- Purcell, Shaun
- Puura, Kaija
- Rajagopalan, Deepthi
- Rehnström, Karola
- Reichenberg, Abraham
- Sabo, Aniko
- Sachse, Michael
- Sanders, Stephan J
- Schafer, Chad
- Schulte-Rüther, Martin
- Skuse, David
- Stevens, Christine
- Szatmari, Peter
- Tammimies, Kristiina
- Valladares, Otto
- Voran, Annette
- Li-San, Wang
- Weiss, Lauren A
- Willsey, A Jeremy
- Yu, Timothy W
- Yuen, Ryan K C
- Cook, Edwin H
- Freitag, Christine M
- Gill, Michael
- Hultman, Christina M
- Lehner, Thomas
- Palotie, Aaarno
- Schellenberg, Gerard D
- Sklar, Pamela
- State, Matthew W
- Sutcliffe, James S
- Walsh, Christiopher A
- Scherer, Stephen W
- Zwick, Michael E
- Barett, Jeffrey C
- Cutler, David J
- Roeder, Kathryn
- Devlin, Bernie
- Daly, Mark J
- Buxbaum, Joseph D
Producer: 20141215
In:
Nature vol. 515
Availability: No items available.
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20.
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Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. [electronic resource] by
- Escott-Price, Valentina
- Bellenguez, Céline
- Wang, Li-San
- Choi, Seung-Hoan
- Harold, Denise
- Jones, Lesley
- Holmans, Peter
- Gerrish, Amy
- Vedernikov, Alexey
- Richards, Alexander
- DeStefano, Anita L
- Lambert, Jean-Charles
- Ibrahim-Verbaas, Carla A
- Naj, Adam C
- Sims, Rebecca
- Jun, Gyungah
- Bis, Joshua C
- Beecham, Gary W
- Grenier-Boley, Benjamin
- Russo, Giancarlo
- Thornton-Wells, Tricia A
- Denning, Nicola
- Smith, Albert V
- Chouraki, Vincent
- Thomas, Charlene
- Ikram, M Arfan
- Zelenika, Diana
- Vardarajan, Badri N
- Kamatani, Yoichiro
- Lin, Chiao-Feng
- Schmidt, Helena
- Kunkle, Brian
- Dunstan, Melanie L
- Vronskaya, Maria
- Johnson, Andrew D
- Ruiz, Agustin
- Bihoreau, Marie-Thérèse
- Reitz, Christiane
- Pasquier, Florence
- Hollingworth, Paul
- Hanon, Olivier
- Fitzpatrick, Annette L
- Buxbaum, Joseph D
- Campion, Dominique
- Crane, Paul K
- Baldwin, Clinton
- Becker, Tim
- Gudnason, Vilmundur
- Cruchaga, Carlos
- Craig, David
- Amin, Najaf
- Berr, Claudine
- Lopez, Oscar L
- De Jager, Philip L
- Deramecourt, Vincent
- Johnston, Janet A
- Evans, Denis
- Lovestone, Simon
- Letenneur, Luc
- Hernández, Isabel
- Rubinsztein, David C
- Eiriksdottir, Gudny
- Sleegers, Kristel
- Goate, Alison M
- Fiévet, Nathalie
- Huentelman, Matthew J
- Gill, Michael
- Brown, Kristelle
- Kamboh, M Ilyas
- Keller, Lina
- Barberger-Gateau, Pascale
- McGuinness, Bernadette
- Larson, Eric B
- Myers, Amanda J
- Dufouil, Carole
- Todd, Stephen
- Wallon, David
- Love, Seth
- Rogaeva, Ekaterina
- Gallacher, John
- George-Hyslop, Peter St
- Clarimon, Jordi
- Lleo, Alberto
- Bayer, Anthony
- Tsuang, Debby W
- Yu, Lei
- Tsolaki, Magda
- Bossù, Paola
- Spalletta, Gianfranco
- Proitsi, Petra
- Collinge, John
- Sorbi, Sandro
- Garcia, Florentino Sanchez
- Fox, Nick C
- Hardy, John
- Naranjo, Maria Candida Deniz
- Bosco, Paolo
- Clarke, Robert
- Brayne, Carol
- Galimberti, Daniela
- Scarpini, Elio
- Bonuccelli, Ubaldo
- Mancuso, Michelangelo
- Siciliano, Gabriele
- Moebus, Susanne
- Mecocci, Patrizia
- Zompo, Maria Del
- Maier, Wolfgang
- Hampel, Harald
- Pilotto, Alberto
- Frank-García, Ana
- Panza, Francesco
- Solfrizzi, Vincenzo
- Caffarra, Paolo
- Nacmias, Benedetta
- Perry, William
- Mayhaus, Manuel
- Lannfelt, Lars
- Hakonarson, Hakon
- Pichler, Sabrina
- Carrasquillo, Minerva M
- Ingelsson, Martin
- Beekly, Duane
- Alvarez, Victoria
- Zou, Fanggeng
- Valladares, Otto
- Younkin, Steven G
- Coto, Eliecer
- Hamilton-Nelson, Kara L
- Gu, Wei
- Razquin, Cristina
- Pastor, Pau
- Mateo, Ignacio
- Owen, Michael J
- Faber, Kelley M
- Jonsson, Palmi V
- Combarros, Onofre
- O'Donovan, Michael C
- Cantwell, Laura B
- Soininen, Hilkka
- Blacker, Deborah
- Mead, Simon
- Mosley, Thomas H
- Bennett, David A
- Harris, Tamara B
- Fratiglioni, Laura
- Holmes, Clive
- de Bruijn, Renee F A G
- Passmore, Peter
- Montine, Thomas J
- Bettens, Karolien
- Rotter, Jerome I
- Brice, Alexis
- Morgan, Kevin
- Foroud, Tatiana M
- Kukull, Walter A
- Hannequin, Didier
- Powell, John F
- Nalls, Michael A
- Ritchie, Karen
- Lunetta, Kathryn L
- Kauwe, John S K
- Boerwinkle, Eric
- Riemenschneider, Matthias
- Boada, Mercè
- Hiltunen, Mikko
- Martin, Eden R
- Schmidt, Reinhold
- Rujescu, Dan
- Dartigues, Jean-François
- Mayeux, Richard
- Tzourio, Christophe
- Hofman, Albert
- Nöthen, Markus M
- Graff, Caroline
- Psaty, Bruce M
- Haines, Jonathan L
- Lathrop, Mark
- Pericak-Vance, Margaret A
- Launer, Lenore J
- Van Broeckhoven, Christine
- Farrer, Lindsay A
- van Duijn, Cornelia M
- Ramirez, Alfredo
- Seshadri, Sudha
- Schellenberg, Gerard D
- Amouyel, Philippe
- Williams, Julie
Producer: 20151026
In:
PloS one vol. 9
Availability: No items available.
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