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Wyszukujesz frazę ""Nickerson, Deborah A."" wg kryterium: Autor


Tytuł :
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Autorzy :
Pinard, Amélie
Guey, Stéphanie
Guo, Dongchuan
Cecchi, Alana C.
Kharas, Natasha
Wallace, Stephanie
Regalado, Ellen S.
Hostetler, Ellen M.
Sharrief, Anjail Z.
Bergametti, Françoise
Kossorotoff, Manoelle
Hervé, Dominique
Kraemer, Markus
Bamshad, Michael J.Aff8, Aff9
Nickerson, Deborah A.
Smith, Edward R.
Tournier-Lasserve, ElisabethAff2, Aff11
Milewicz, Dianna M.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(2):427-431
Czasopismo naukowe
Tytuł :
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Autorzy :
Guo, HuiAff1, Aff2
Duyzend, Michael H.
Coe, Bradley P.
Baker, Carl
Hoekzema, Kendra
Gerdts, Jennifer
Turner, Tychele N.
Zody, Michael C.
Beighley, Jennifer S.
Murali, Shwetha C.
Nelson, Bradley J.
University of Washington Center for Mendelian Genomics
Bamshad, Michael J.
Nickerson, Deborah A.
Bernier, Raphael A.
Eichler, Evan E.Aff1, Aff6
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1611-1620
Czasopismo naukowe
Tytuł :
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections
Autorzy :
Duan, Xue-Yan
Guo, Dong-chuan
Regalado, Ellen S.
Shen, HongAff1, Aff2
University of Washington Center for Mendelian Genomics
Coselli, Joseph S.Aff3, Aff4
Estrera, Anthony L.
Safi, Hazim J.
Bamshad, Michael J.
Nickerson, Deborah A.
LeMaire, Scott A.Aff3, Aff4
De Backer, Julie
Milewicz, Dianna M.
Pokaż więcej
Źródło :
European Journal of Human Genetics. 27(7):1054-1060
Czasopismo naukowe
Tytuł :
Insights into genetics, human biology and disease gleaned from family based genomic studies
Autorzy :
Posey, Jennifer E.
O’Donnell-Luria, Anne H.Aff2, Aff3, Aff4
Chong, Jessica X.
Harel, Tamar
Jhangiani, Shalini N.
Coban Akdemir, Zeynep H.
Buyske, StevenAff8, Aff9
Pehlivan, Davut
Carvalho, Claudia M. B.
Baxter, Samantha
Sobreira, Nara
Liu, PengfeiAff1, Aff11
Wu, NanAff1, Aff12
Rosenfeld, Jill A.
Kumar, Sushant
Avramopoulos, Dimitri
White, Janson J.Aff1, Aff5
Doheny, Kimberly F.Aff10, Aff14
Witmer, P. DaneAff10, Aff14
Boehm, Corinne
Sutton, V. Reid
Muzny, Donna M.
Boerwinkle, EricAff7, Aff15
Günel, MuratAff16, Aff17
Nickerson, Deborah A.
Mane, Shrikant
MacArthur, Daniel G.Aff2, Aff3
Gibbs, Richard A.Aff1, Aff7
Hamosh, Ada
Lifton, Richard P.Aff16, Aff20, Aff21
Matise, Tara C.
Rehm, Heidi L.Aff2, Aff3
Gerstein, Mark
Bamshad, Michael J.Aff5, Aff18
Valle, David
Lupski, James R.Aff1, Aff7, Aff22, Aff23
Centers for Mendelian Genomics
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):798-812
Czasopismo naukowe
Tytuł :
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
Autorzy :
Bien, Stephanie A.Aff1, Aff62
Su, Yu-RuAff1, Aff62
Conti, David V.Aff2, Aff3, Aff62
Harrison, Tabitha A.Aff1, Aff62
Qu, ConghuiAff1, Aff62
Guo, XingyiAff4, Aff62
Lu, YingchangAff4, Aff62
Albanes, DemetriusAff5, Aff62
Auer, Paul L.Aff6, Aff62
Banbury, Barbara L.Aff1, Aff62
Berndt, Sonja I.Aff5, Aff62
Bézieau, StéphaneAff7, Aff8, Aff62
Brenner, HermannAff9, Aff10, Aff11, Aff62
Buchanan, Daniel D.Aff12, Aff13, Aff14, Aff62
Caan, Bette J.Aff15, Aff62
Campbell, Peter T.Aff16, Aff62
Carlson, Christopher S.Aff1, Aff62
Chan, Andrew T.Aff17, Aff18, Aff62
Chang-Claude, JennyAff19, Aff20, Aff62
Chen, SaiAff21, Aff62
Connolly, Charles M.Aff1, Aff62
Easton, Douglas F.Aff22, Aff62
Feskens, Edith J. M.Aff23, Aff62
Gallinger, StevenAff24, Aff62
Giles, Graham G.Aff12, Aff25, Aff62
Gunter, Marc J.Aff26, Aff62
Hampe, JochenAff27, Aff62
Huyghe, Jeroen R.Aff1, Aff62
Hoffmeister, MichaelAff9, Aff62
Hudson, Thomas J.Aff28, Aff29, Aff62
Jacobs, Eric J.Aff16, Aff62
Jenkins, Mark A.Aff12, Aff62
Kampman, EllenAff23, Aff62
Kang, Hyun MinAff21, Aff62
Kühn, TilmanAff30, Aff62
Küry, SébastienAff7, Aff8, Aff62
Lejbkowicz, FlavioAff31, Aff32, Aff62
Le Marchand, LoicAff33, Aff62
Milne, Roger L.Aff12, Aff25, Aff62
Li, LiAff34, Aff62
Li, Christopher I.Aff1, Aff62
Lindblom, AnnikaAff35, Aff36, Aff62
Lindor, Noralane M.Aff37, Aff62
Martín, VicenteAff38, Aff39, Aff62
McNeil, Caroline E.Aff2, Aff62
Melas, MarilenaAff2, Aff62
Moreno, VictorAff39, Aff40, Aff41, Aff62
Newcomb, Polly A.Aff1, Aff62
Offit, KennethAff42, Aff62
Pharaoh, Paul D. P.Aff43, Aff62
Potter, John D.Aff1, Aff62
Qu, ChenxuAff2, Aff62
Riboli, ElioAff44, Aff62
Rennert, GadAff31, Aff32, Aff62
Sala, NúriaAff45, Aff46, Aff62
Schafmayer, ClemensAff47, Aff62
Scacheri, Peter C.Aff48, Aff62
Schmit, Stephanie L.Aff49, Aff50, Aff62
Severi, GianlucaAff51, Aff62
Slattery, Martha L.Aff52, Aff62
Smith, Joshua D.Aff53, Aff62
Trichopoulou, AntoniaAff54, Aff55, Aff62
Tumino, RosarioAff56, Aff62
Ulrich, Cornelia M.Aff57, Aff62
van Duijnhoven, Fränzel J. B.Aff23, Aff62
Van Guelpen, BethanyAff58, Aff62
Weinstein, Stephanie J.Aff5, Aff62
White, EmilyAff1, Aff62
Wolk, AlicjaAff59, Aff60, Aff62
Woods, Michael O.Aff61, Aff62
Wu, Anna H.Aff2, Aff3, Aff62
Abecasis, Goncalo R.Aff21, Aff62
Casey, GrahamAff51, Aff62
Nickerson, Deborah A.Aff53, Aff62
Gruber, Stephen B.Aff2, Aff62
Hsu, LiAff1, Aff62
Zheng, WeiAff4, Aff62, Aff63
Peters, UlrikeAff1, Aff62
Pokaż więcej
Źródło :
Human Genetics. 138(4):307-326
Czasopismo naukowe
Tytuł :
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Autorzy :
Negri, Gloria
Magini, Pamela
Milani, Donatella
Crippa, MilenaAff4, Aff5
Biamino, Elisa
Piccione, Maria
Sotgiu, Stefano
Perrìa, Chiara
Vitiello, Giuseppina
Frontali, Marina
Boni, Antonella
Di Fede, Elisabetta
Gandini, Maria Chiara
Colombo, Elisa Adele
Bamshad, Michael J.
Nickerson, Deborah A.
Smith, Joshua D.
Loddo, Italia
Finelli, PalmaAff4, Aff5
Seri, Marco
Pippucci, Tommaso
Larizza, Lidia
Gervasini, Cristina
Pokaż więcej
Źródło :
Human Genetics. 138(3):257-269
Czasopismo naukowe
Tytuł :
Characterization of CYP3A pharmacogenetic variation in American Indian and Alaska Native communities, targeting CYP3A4*1G allele function.
Autorzy :
Fohner, Alison E.
Dalton, Rachel
Skagen, Kasse
Jackson, Konner
Claw, Katrina G.
Hopkins, Scarlett E.
Robinson, Renee
Khan, Burhan A.
Prasad, Bhagwat
Schuetz, Erin G.
Nickerson, Deborah A.
Thornton, Timothy A.
Dillard, Denise A.
Boyer, Bert B.
Thummel, Kenneth E.
Woodahl, Erica L.
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Źródło :
CTS: Clinical & Translational Science; Jul2021, Vol. 14 Issue 4, p1292-1302, 11p
Czasopismo naukowe
Tytuł :
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Autorzy :
Hildebrandt, Clara C.
Patel, Nisha
Graham, John M.
Bamshad, Michael
Nickerson, Deborah A.
White, Janson J.
Marvin, Colby T.
Miller, Danny E.
Grand, Katheryn L.
Sanchez‐Lara, Pedro A.
Schweitzer, Daniela
Al‐Zaidan, Hamad I.
Al Masseri, Zainab
Alkuraya, Fowzan S.
Lin, Angela E.
Pokaż więcej
Źródło :
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2136-2149, 14p
Czasopismo naukowe
Tytuł :
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
Autorzy :
Bien, Stephanie A.
Su, Yu-Ru
Conti, David V.Aff2, Aff3
Harrison, Tabitha A.
Qu, Conghui
Guo, Xingyi
Lu, Yingchang
Albanes, Demetrius
Auer, Paul L.
Banbury, Barbara L.
Berndt, Sonja I.
Bézieau, StéphaneAff7, Aff8
Brenner, HermannAff9, Aff10, Aff11
Buchanan, Daniel D.Aff12, Aff13, Aff14
Caan, Bette J.
Campbell, Peter T.
Carlson, Christopher S.
Chan, Andrew T.Aff17, Aff18
Chang-Claude, JennyAff19, Aff20
Chen, Sai
Connolly, Charles M.
Easton, Douglas F.
Feskens, Edith J. M.
Gallinger, Steven
Giles, Graham G.Aff12, Aff25
Gunter, Marc J.
Hampe, Jochen
Huyghe, Jeroen R.
Hoffmeister, Michael
Hudson, Thomas J.Aff28, Aff29
Jacobs, Eric J.
Jenkins, Mark A.
Kampman, Ellen
Kang, Hyun Min
Kühn, Tilman
Küry, Sébastien
Lejbkowicz, FlavioAff31, Aff32
Le Marchand, Loic
Milne, Roger L.Aff12, Aff25
Li, Li
Li, Christopher I.
Lindblom, AnnikaAff35, Aff36
Lindor, Noralane M.
Martín, VicenteAff38, Aff39
McNeil, Caroline E.
Melas, Marilena
Moreno, VictorAff39, Aff40, Aff41
Newcomb, Polly A.
Offit, Kenneth
Pharaoh, Paul D. P.
Potter, John D.
Qu, Chenxu
Riboli, Elio
Rennert, GadAff31, Aff32
Sala, NúriaAff45, Aff46
Schafmayer, Clemens
Scacheri, Peter C.
Schmit, Stephanie L.Aff49, Aff50
Severi, Gianluca
Slattery, Martha L.
Smith, Joshua D.
Trichopoulou, AntoniaAff54, Aff55
Tumino, Rosario
Ulrich, Cornelia M.
van Duijnhoven, Fränzel J. B.
Van Guelpen, Bethany
Weinstein, Stephanie J.
White, Emily
Wolk, AlicjaAff59, Aff60
Woods, Michael O.
Wu, Anna H.Aff2, Aff3
Abeçasis, Goncalo R.
Casey, Graham
Nickerson, Deborah A.
Gruber, Stephen B.
Hsu, Li
Zheng, WeiAff4, Aff63
Peters, Ulrike
Pokaż więcej
Źródło :
Human Genetics. 138(7):789-791
Czasopismo naukowe
Tytuł :
Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts
Autorzy :
Wheeler, Marsha M.
Lannert, Kerry W.
Huston, Haley
Fletcher, Shelley N.
Harris, Samantha
Teramura, Gayle
Maki, Helena J.
Frazar, Chris
Underwood, Jason G.
Shaffer, Tristan
Correa, Adolfo
Delaney, MeghanAff3, Aff5
Reiner, Alex P.
Wilson, James G.
Nickerson, Deborah A.Aff1, Aff8
Johnsen, Jill M.Aff2, Aff9
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):477-486
Czasopismo naukowe
Tytuł :
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
Autorzy :
Liaqat, KhurramAff1, Aff2
Schrauwen, Isabelle
Raza, Syed IrfanAff3, Aff4
Lee, Kwanghyuk
Hussain, ShabirAff2, Aff4
Chakchouk, Imen
Nasir, Abdul
Acharya, Anushree
Abbe, Izoduwa
Umair, MuhammadAff4, Aff5
Ansar, Muhammad
Ullah, IrfanAff4, Aff6
Shah, KhadimAff4, Aff7
University of Washington Center for Mendelian Genomics
Bamshad, Michael J.Aff8, Aff9
Nickerson, Deborah A.
Ahmad, Wasim
Leal, Suzanne M.
Pokaż więcej
Źródło :
Journal of Human Genetics. 64(2):153-160
Czasopismo naukowe
Tytuł :
Discovery of common and rare genetic risk variants for colorectal cancer
Autorzy :
Huyghe, Jeroen R.
Bien, Stephanie A.
Harrison, Tabitha A.
Kang, Hyun Min
Chen, Sai
Schmit, Stephanie L.
Conti, David V.
Qu, Conghui
Jeon, Jihyoun
Edlund, Christopher K.
Greenside, Peyton
Wainberg, Michael
Schumacher, Fredrick R.
Smith, Joshua D.
Levine, David M.
Nelson, Sarah C.
Sinnott-Armstrong, Nasa A.
Albanes, Demetrius
Alonso, M. HenarAff13, Aff14, Aff15
Anderson, Kristin
Arnau-Collell, Coral
Arndt, Volker
Bamia, ChristinaAff19, Aff20
Banbury, Barbara L.
Baron, John A.
Berndt, Sonja I.
Bézieau, Stéphane
Bishop, D. Timothy
Boehm, Juergen
Boeing, Heiner
Brenner, HermannAff18, Aff26, Aff27
Brezina, Stefanie
Buch, Stephan
Buchanan, Daniel D.Aff30, Aff31, Aff32
Burnett-Hartman, Andrea
Butterbach, Katja
Caan, Bette J.
Campbell, Peter T.
Carlson, Christopher S.Aff1, Aff36
Castellví-Bel, Sergi
Chan, Andrew T.Aff37, Aff38, Aff39, Aff40, Aff41, Aff42
Chang-Claude, JennyAff43, Aff44
Chanock, Stephen J.
Chirlaque, Maria-DoloresAff14, Aff45
Cho, Sang Hee
Connolly, Charles M.
Cross, Amanda J.Aff47, Aff48
Cuk, Katarina
Curtis, Keith R.
de la Chapelle, Albert
Doheny, Kimberly F.
Duggan, David
Easton, Douglas F.Aff52, Aff53
Elias, Sjoerd G.
Elliott, Faye
English, Dallas R.Aff55, Aff56
Feskens, Edith J. M.
Figueiredo, Jane C.Aff58, Aff59
Fischer, Rocky
FitzGerald, Liesel M.Aff56, Aff61
Forman, David
Gala, ManishAff37, Aff39
Gallinger, Steven
Gauderman, W. James
Giles, Graham G.Aff55, Aff56
Gillanders, Elizabeth
Gong, Jian
Goodman, Phyllis J.
Grady, William M.
Grove, John S.
Gsur, Andrea
Gunter, Marc J.
Haile, Robert W.
Hampe, Jochen
Hampel, Heather
Harlid, Sophia
Hayes, Richard B.
Hofer, Philipp
Hoffmeister, Michael
Hopper, John L.Aff55, Aff73
Hsu, Wan-Ling
Huang, Wen-Yi
Hudson, Thomas J.
Hunter, David J.Aff41, Aff75
Ibañez-Sanz, GemmaAff13, Aff76, Aff77
Idos, Gregory E.
Ingersoll, Roxann
Jackson, Rebecca D.
Jacobs, Eric J.
Jenkins, Mark A.
Joshi, Amit D.Aff39, Aff41
Joshu, Corinne E.
Keku, Temitope O.
Key, Timothy J.
Kim, Hyeong Rok
Kobayashi, Emiko
Kolonel, Laurence N.
Kooperberg, Charles
Kühn, Tilman
Küry, Sébastien
Kweon, Sun-SeogAff84, Aff85
Larsson, Susanna C.
Laurie, Cecelia A.
Le Marchand, Loic
Leal, Suzanne M.
Lee, Soo ChinAff88, Aff89
Lejbkowicz, FlavioAff90, Aff91, Aff92
Lemire, Mathieu
Li, Christopher I.
Li, Li
Lieb, Wolfgang
Lin, Yi
Lindblom, AnnikaAff95, Aff96
Lindor, Noralane M.
Ling, Hua
Louie, Tin L.
Männistö, Satu
Markowitz, Sanford D.
Martín, VicenteAff14, Aff100
Masala, Giovanna
McNeil, Caroline E.
Melas, Marilena
Milne, Roger L.Aff55, Aff56
Moreno, Lorena
Murphy, Neil
Myte, Robin
Naccarati, AlessioAff103, Aff104
Newcomb, Polly A.Aff1, Aff36
Offit, KennethAff105, Aff106
Ogino, ShujiAff40, Aff41, Aff107, Aff108
Onland-Moret, N. Charlotte
Pardini, BarbaraAff104, Aff109
Parfrey, Patrick S.
Pearlman, Rachel
Perduca, VittorioAff111, Aff112
Pharoah, Paul D. P.
Pinchev, Mila
Platz, Elizabeth A.
Prentice, Ross L.
Pugh, Elizabeth
Raskin, Leon
Rennert, GadAff91, Aff92, Aff114
Rennert, Hedy S.Aff91, Aff92, Aff114
Riboli, Elio
Rodríguez-Barranco, MiguelAff14, Aff116
Romm, Jane
Sakoda, Lori C.Aff1, Aff117
Schafmayer, Clemens
Schoen, Robert E.
Seminara, Daniela
Shah, Mitul
Shelford, Tameka
Shin, Min-Ho
Shulman, Katerina
Sieri, Sabina
Slattery, Martha L.
Southey, Melissa C.
Stadler, Zsofia K.
Stegmaier, Christa
Su, Yu-Ru
Tangen, Catherine M.
Thibodeau, Stephen N.
Thomas, Duncan C.
Thomas, Sushma S.
Toland, Amanda E.
Trichopoulou, AntoniaAff19, Aff20
Ulrich, Cornelia M.
Van Den Berg, David J.
van Duijnhoven, Franzel J. B.
Van Guelpen, Bethany
van Kranen, Henk
Vijai, Joseph
Visvanathan, Kala
Vodicka, PavelAff103, Aff129, Aff130
Vodickova, LudmilaAff103, Aff129, Aff130
Vymetalkova, VeronikaAff103, Aff129, Aff130
Weigl, KorbinianAff18, Aff27, Aff131
Weinstein, Stephanie J.
White, Emily
Win, Aung KoAff32, Aff55
Wolf, C. Roland
Wolk, AlicjaAff86, Aff133
Woods, Michael O.
Wu, Anna H.
Zaidi, Syed H.
Zanke, Brent W.
Zhang, Qing
Zheng, Wei
Scacheri, Peter C.
Potter, John D.
Bassik, Michael C.
Kundaje, AnshulAff7, Aff11
Casey, Graham
Moreno, VictorAff13, Aff14, Aff15, Aff77
Abecasis, Goncalo R.
Nickerson, Deborah A.
Gruber, Stephen B.
Hsu, LiAff1, Aff10
Peters, UlrikeAff1, Aff36
Pokaż więcej
Źródło :
Nature Genetics. 51(1):76-87
Czasopismo naukowe
Tytuł :
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Autorzy :
Lessel, Davor
Ozel, Ayse Bilge
Campbell, Susan E.
Saadi, Abdelkrim
Arlt, Martin F.
McSweeney, Keisha Melodi
Plaiasu, Vasilica
Szakszon, Katalin
Szőllős, Anna
Rusu, Cristina
Rojas, Armando J.
Lopez-Valdez, Jaime
Thiele, Holger
Nürnberg, PeterAff11, Aff12, Aff13
Nickerson, Deborah A.
Bamshad, Michael J.
Li, Jun Z.
Kubisch, Christian
Glover, Thomas W.
Gordon, Leslie B.Aff15, Aff16
Pokaż więcej
Źródło :
Human Genetics. 137(11-12):921-939
Czasopismo naukowe

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