Results
|
521.
|
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. [electronic resource] by
- Gambin, Tomasz
- Akdemir, Zeynep C
- Yuan, Bo
- Gu, Shen
- Chiang, Theodore
- Carvalho, Claudia M B
- Shaw, Chad
- Jhangiani, Shalini
- Boone, Philip M
- Eldomery, Mohammad K
- Karaca, Ender
- Bayram, Yavuz
- Stray-Pedersen, Asbjørg
- Muzny, Donna
- Charng, Wu-Lin
- Bahrambeigi, Vahid
- Belmont, John W
- Boerwinkle, Eric
- Beaudet, Arthur L
- Gibbs, Richard A
- Lupski, James R
Producer: 20171002
In:
Nucleic acids research vol. 45
Availability: No items available.
|
|
522.
|
The association of cell cycle checkpoint 2 variants and kidney function: findings of the Family Blood Pressure Program and the Atherosclerosis Risk In Communities study. [electronic resource] by
- Franceschini, Nora
- North, Kari E
- Arnett, Donna
- Pankow, James S
- Chung, Jay H
- Baird, Lisa
- Leppert, Mark F
- Eckfeldt, John H
- Boerwinkle, Eric
- Gu, C Charles
- Lewis, Cora E
- Myers, Richard H
- Turner, Stephen T
- Weder, Alan
- Kao, W H Linda
- Mosley, Thomas H
- Chakravarti, Aravinda
- Kramer, Holly
- Zhang, Jinghui
- Hunt, Steven C
Producer: 20090528
In:
American journal of hypertension vol. 22
Availability: No items available.
|
|
523.
|
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. [electronic resource] by
- Posey, Jennifer E
- Harel, Tamar
- Liu, Pengfei
- Rosenfeld, Jill A
- James, Regis A
- Coban Akdemir, Zeynep H
- Walkiewicz, Magdalena
- Bi, Weimin
- Xiao, Rui
- Ding, Yan
- Xia, Fan
- Beaudet, Arthur L
- Muzny, Donna M
- Gibbs, Richard A
- Boerwinkle, Eric
- Eng, Christine M
- Sutton, V Reid
- Shaw, Chad A
- Plon, Sharon E
- Yang, Yaping
- Lupski, James R
Producer: 20170131
In:
The New England journal of medicine vol. 376
Availability: No items available.
|
|
524.
|
Genome-Wide Meta-Analysis of Blood Pressure Response to β [electronic resource] by
- Singh, Sonal
- Warren, Helen R
- Hiltunen, Timo P
- McDonough, Caitrin W
- El Rouby, Nihal
- Salvi, Erika
- Wang, Zhiying
- Garofalidou, Tatiana
- Fyhrquist, Frej
- Kontula, Kimmo K
- Glorioso, Valeria
- Zaninello, Roberta
- Glorioso, Nicola
- Pepine, Carl J
- Munroe, Patricia B
- Turner, Stephan T
- Chapman, Arlene B
- Boerwinkle, Eric
- Johnson, Julie A
- Gong, Yan
- Cooper-DeHoff, Rhonda M
Producer: 20201110
In:
Journal of the American Heart Association vol. 8
Availability: No items available.
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|
525.
|
Orthostatic hypotension and novel blood pressure-associated gene variants: Genetics of Postural Hemodynamics (GPH) Consortium. [electronic resource] by
- Fedorowski, Artur
- Franceschini, Nora
- Brody, Jennifer
- Liu, Chunyu
- Verwoert, Germaine C
- Boerwinkle, Eric
- Couper, David
- Rice, Kenneth M
- Rotter, Jerome I
- Mattace-Raso, Francesco
- Uitterlinden, Andre
- Hofman, Albert
- Almgren, Peter
- Sjögren, Marketa
- Hedblad, Bo
- Larson, Martin G
- Newton-Cheh, Christopher
- Wang, Thomas J
- Rose, Kathryn M
- Psaty, Bruce M
- Levy, Daniel
- Witteman, Jacqueline
- Melander, Olle
Producer: 20130114
In:
European heart journal vol. 33
Availability: No items available.
|
|
526.
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Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. [electronic resource] by
- Bayram, Yavuz
- Gulsuner, Suleyman
- Guran, Tulay
- Abaci, Ayhan
- Yesil, Gozde
- Gulsuner, Hilal Unal
- Atay, Zeynep
- Pierce, Sarah B
- Gambin, Tomasz
- Lee, Ming
- Turan, Serap
- Bober, Ece
- Atik, Mehmed M
- Walsh, Tom
- Karaca, Ender
- Pehlivan, Davut
- Jhangiani, Shalini N
- Muzny, Donna
- Bereket, Abdullah
- Buyukgebiz, Atilla
- Boerwinkle, Eric
- Gibbs, Richard A
- King, Mary-Claire
- Lupski, James R
Producer: 20150930
In:
The Journal of clinical endocrinology and metabolism vol. 100
Availability: No items available.
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|
527.
|
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. [electronic resource] by
- Kapoor, Ashish
- Sekar, Rajesh B
- Hansen, Nancy F
- Fox-Talbot, Karen
- Morley, Michael
- Pihur, Vasyl
- Chatterjee, Sumantra
- Brandimarto, Jeffrey
- Moravec, Christine S
- Pulit, Sara L
- Pfeufer, Arne
- Mullikin, Jim
- Ross, Mark
- Green, Eric D
- Bentley, David
- Newton-Cheh, Christopher
- Boerwinkle, Eric
- Tomaselli, Gordon F
- Cappola, Thomas P
- Arking, Dan E
- Halushka, Marc K
- Chakravarti, Aravinda
Producer: 20140729
In:
American journal of human genetics vol. 94
Availability: No items available.
|
|
528.
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Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. [electronic resource] by
- Chiang, Charleston W K
- Liu, Ching-Ti
- Lettre, Guillaume
- Lange, Leslie A
- Jorgensen, Neal W
- Keating, Brendan J
- Vedantam, Sailaja
- Nock, Nora L
- Franceschini, Nora
- Reiner, Alex P
- Demerath, Ellen W
- Boerwinkle, Eric
- Rotter, Jerome I
- Wilson, James G
- North, Kari E
- Papanicolaou, George J
- Cupples, L Adrienne
- Murabito, Joanne M
- Hirschhorn, Joel N
Producer: 20130128
In:
Genetics vol. 192
Availability: No items available.
|
|
529.
|
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. [electronic resource] by
- Liu, Ching-Ti
- Young, Kristin L
- Brody, Jennifer A
- Olden, Matthias
- Wojczynski, Mary K
- Heard-Costa, Nancy
- Li, Guo
- Morrison, Alanna C
- Muzny, Donna
- Gibbs, Richard A
- Reid, Jeffrey G
- Shao, Yaming
- Zhou, Yanhua
- Boerwinkle, Eric
- Heiss, Gerardo
- Wagenknecht, Lynne
- McKnight, Barbara
- Borecki, Ingrid B
- Fox, Caroline S
- North, Kari E
- Cupples, L Adrienne
Producer: 20150330
In:
Circulation. Cardiovascular genetics vol. 7
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|
530.
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. [electronic resource] by
- Harel, Tamar
- Yesil, Gozde
- Bayram, Yavuz
- Coban-Akdemir, Zeynep
- Charng, Wu-Lin
- Karaca, Ender
- Al Asmari, Ali
- Eldomery, Mohammad K
- Hunter, Jill V
- Jhangiani, Shalini N
- Rosenfeld, Jill A
- Pehlivan, Davut
- El-Hattab, Ayman W
- Saleh, Mohammed A
- LeDuc, Charles A
- Muzny, Donna
- Boerwinkle, Eric
- Gibbs, Richard A
- Chung, Wendy K
- Yang, Yaping
- Belmont, John W
- Lupski, James R
Producer: 20160725
In:
American journal of human genetics vol. 98
Availability: No items available.
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|
531.
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Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies. [electronic resource] by
- Smith, Jennifer A
- Zhao, Wei
- Yasutake, Kalyn
- August, Carmella
- Ratliff, Scott M
- Faul, Jessica D
- Boerwinkle, Eric
- Chakravarti, Aravinda
- Diez Roux, Ana V
- Gao, Yan
- Griswold, Michael E
- Heiss, Gerardo
- Kardia, Sharon L R
- Morrison, Alanna C
- Musani, Solomon K
- Mwasongwe, Stanford
- North, Kari E
- Rose, Kathryn M
- Sims, Mario
- Sun, Yan V
- Weir, David R
- Needham, Belinda L
Producer: 20180601
In:
International journal of environmental research and public health vol. 14
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532.
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Evolution and functional impact of rare coding variation from deep sequencing of human exomes. [electronic resource] by
- Tennessen, Jacob A
- Bigham, Abigail W
- O'Connor, Timothy D
- Fu, Wenqing
- Kenny, Eimear E
- Gravel, Simon
- McGee, Sean
- Do, Ron
- Liu, Xiaoming
- Jun, Goo
- Kang, Hyun Min
- Jordan, Daniel
- Leal, Suzanne M
- Gabriel, Stacey
- Rieder, Mark J
- Abecasis, Goncalo
- Altshuler, David
- Nickerson, Deborah A
- Boerwinkle, Eric
- Sunyaev, Shamil
- Bustamante, Carlos D
- Bamshad, Michael J
- Akey, Joshua M
Producer: 20120723
In:
Science (New York, N.Y.) vol. 337
Availability: No items available.
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|
533.
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. [electronic resource] by
- Marafi, Dana
- Mitani, Tadahiro
- Isikay, Sedat
- Hertecant, Jozef
- Almannai, Mohammed
- Manickam, Kandamurugu
- Abou Jamra, Rami
- El-Hattab, Ayman W
- Rajah, Jaishen
- Fatih, Jawid M
- Du, Haowei
- Karaca, Ender
- Bayram, Yavuz
- Punetha, Jaya
- Rosenfeld, Jill A
- Jhangiani, Shalini N
- Boerwinkle, Eric
- Akdemir, Zeynep C
- Erdin, Serkan
- Hunter, Jill V
- Gibbs, Richard A
- Pehlivan, Davut
- Posey, Jennifer E
- Lupski, James R
Producer: 20210419
In:
Annals of clinical and translational neurology vol. 7
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534.
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Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study. [electronic resource] by
- Franceschini, Nora
- Carty, Cara
- Bůzková, Petra
- Reiner, Alex P
- Garrett, Tiana
- Lin, Yi
- Vöckler, Jens-S
- Hindorff, Lucia A
- Cole, Shelley A
- Boerwinkle, Eric
- Lin, Dan-Yu
- Bookman, Ebony
- Best, Lyle G
- Bella, Jonathan N
- Eaton, Charles
- Greenland, Philip
- Jenny, Nancy
- North, Kari E
- Taverna, Darin
- Young, Alicia M
- Deelman, Ewa
- Kooperberg, Charles
- Psaty, Bruce
- Heiss, Gerardo
Producer: 20120413
In:
Circulation. Cardiovascular genetics vol. 4
Availability: No items available.
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|
535.
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Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. [electronic resource] by
- Beecham, Gary W
- Vardarajan, Badri
- Blue, Elizabeth
- Bush, William
- Jaworski, James
- Barral, Sandra
- DeStefano, Anita
- Hamilton-Nelson, Kara
- Kunkle, Brian
- Martin, Eden R
- Naj, Adam
- Rajabli, Farid
- Reitz, Christiane
- Thornton, Timothy
- van Duijn, Cornelia
- Goate, Allison
- Seshadri, Sudha
- Farrer, Lindsay A
- Boerwinkle, Eric
- Schellenberg, Gerard
- Haines, Jonathan L
- Wijsman, Ellen
- Mayeux, Richard
- Pericak-Vance, Margaret A
Publication details: Neurology. Genetics Dec 2018
In:
Neurology. Genetics vol. 4
Availability: No items available.
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536.
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. [electronic resource] by
- Li, Alexander H
- Hanchard, Neil A
- Furthner, Dieter
- Fernbach, Susan
- Azamian, Mahshid
- Nicosia, Annarita
- Rosenfeld, Jill
- Muzny, Donna
- D'Alessandro, Lisa C A
- Morris, Shaine
- Jhangiani, Shalini
- Parekh, Dhaval R
- Franklin, Wayne J
- Lewin, Mark
- Towbin, Jeffrey A
- Penny, Daniel J
- Fraser, Charles D
- Martin, James F
- Eng, Christine
- Lupski, James R
- Gibbs, Richard A
- Boerwinkle, Eric
- Belmont, John W
Producer: 20180713
In:
Genome medicine vol. 9
Availability: No items available.
|
|
537.
|
Sorting nexin 1 loss results in increased oxidative stress and hypertension. [electronic resource] by
- Yang, Jian
- Asico, Laureano D
- Beitelshees, Amber L
- Feranil, Jun B
- Wang, Xiaoyan
- Jones, John E
- Armando, Ines
- Cuevas, Santiago G
- Schwartz, Gary L
- Gums, John G
- Chapman, Arlene B
- Turner, Stephen T
- Boerwinkle, Eric
- Cooper-DeHoff, Rhonda M
- Johnson, Julie A
- Felder, Robin A
- Weinman, Edward J
- Zeng, Chunyu
- Jose, Pedro A
- Villar, Van Anthony M
Producer: 20210119
In:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 34
Availability: No items available.
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|
538.
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Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci. [electronic resource] by
- Demerath, Ellen W
- Guan, Weihua
- Grove, Megan L
- Aslibekyan, Stella
- Mendelson, Michael
- Zhou, Yi-Hui
- Hedman, Åsa K
- Sandling, Johanna K
- Li, Li-An
- Irvin, Marguerite R
- Zhi, Degui
- Deloukas, Panos
- Liang, Liming
- Liu, Chunyu
- Bressler, Jan
- Spector, Tim D
- North, Kari
- Li, Yun
- Absher, Devin M
- Levy, Daniel
- Arnett, Donna K
- Fornage, Myriam
- Pankow, James S
- Boerwinkle, Eric
Producer: 20160517
In:
Human molecular genetics vol. 24
Availability: No items available.
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539.
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Genetic predisposition to higher blood pressure increases coronary artery disease risk. [electronic resource] by
- Lieb, Wolfgang
- Jansen, Henning
- Loley, Christina
- Pencina, Michael J
- Nelson, Christopher P
- Newton-Cheh, Christopher
- Kathiresan, Sekar
- Reilly, Muredach P
- Assimes, Themistocles L
- Boerwinkle, Eric
- Hall, Alistair S
- Hengstenberg, Christian
- Laaksonen, Reijo
- McPherson, Ruth
- Thorsteinsdottir, Unnur
- Ziegler, Andreas
- Peters, Annette
- Thompson, John R
- König, Inke R
- Erdmann, Jeanette
- Samani, Nilesh J
- Vasan, Ramachandran S
- Schunkert, Heribert
Producer: 20130705
In:
Hypertension (Dallas, Tex. : 1979) vol. 61
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540.
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Molecular diagnostic experience of whole-exome sequencing in adult patients. [electronic resource] by
- Posey, Jennifer E
- Rosenfeld, Jill A
- James, Regis A
- Bainbridge, Matthew
- Niu, Zhiyv
- Wang, Xia
- Dhar, Shweta
- Wiszniewski, Wojciech
- Akdemir, Zeynep H C
- Gambin, Tomasz
- Xia, Fan
- Person, Richard E
- Walkiewicz, Magdalena
- Shaw, Chad A
- Sutton, V Reid
- Beaudet, Arthur L
- Muzny, Donna
- Eng, Christine M
- Yang, Yaping
- Gibbs, Richard A
- Lupski, James R
- Boerwinkle, Eric
- Plon, Sharon E
Producer: 20170911
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
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