Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Celebrating scientific excellence and global health impact: The 2022 Canada Gairdner Awards.

Rossant, Janet.

Cell ; 185(8): 1287-1289, 2022 04 14.

Artigo em Inglês | MEDLINE | ID: mdl-35385686

2.

Screening Human Embryos for Polygenic Traits Has Limited Utility.

Karavani, Ehud; Zuk, Or; Zeevi, Danny; Barzilai, Nir; Stefanis, Nikos C; Hatzimanolis, Alex; Smyrnis, Nikolaos; Avramopoulos, Dimitrios; Kruglyak, Leonid; Atzmon, Gil; Lam, Max; Lencz, Todd; Carmi, Shai.

Cell ; 179(6): 1424-1435.e8, 2019 11 27.

Artigo em Inglês | MEDLINE | ID: mdl-31761530

3.

The Predecessors Within . . .

Vernot, Benjamin; Pääbo, Svante.

Cell ; 173(1): 6-7, 2018 03 22.

Artigo em Inglês | MEDLINE | ID: mdl-29570998

4.

Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci.

Kim, Jaehee; Edge, Michael D; Algee-Hewitt, Bridget F B; Li, Jun Z; Rosenberg, Noah A.

Cell ; 175(3): 848-858.e6, 2018 10 18.

Artigo em Inglês | MEDLINE | ID: mdl-30318150

5.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk, Tatsiana; Hendriks, William T; Yadav, Rachita; Shin, David; Gao, Dadi; Vaine, Christine A; Collins, Ryan L; Domingo, Aloysius; Currall, Benjamin; Stortchevoi, Alexei; Multhaupt-Buell, Trisha; Penney, Ellen B; Cruz, Lilian; Dhakal, Jyotsna; Brand, Harrison; Hanscom, Carrie; Antolik, Caroline; Dy, Marisela; Ragavendran, Ashok; Underwood, Jason; Cantsilieris, Stuart; Munson, Katherine M; Eichler, Evan E; Acuña, Patrick; Go, Criscely; Jamora, R Dominic G; Rosales, Raymond L; Church, Deanna M; Williams, Stephen R; Garcia, Sarah; Klein, Christine; Müller, Ulrich; Wilhelmsen, Kirk C; Timmers, H T Marc; Sapir, Yechiam; Wainger, Brian J; Henderson, Daniel; Ito, Naoto; Weisenfeld, Neil; Jaffe, David; Sharma, Nutan; Breakefield, Xandra O; Ozelius, Laurie J; Bragg, D Cristopher; Talkowski, Michael E.

Cell ; 172(5): 897-909.e21, 2018 02 22.

Artigo em Inglês | MEDLINE | ID: mdl-29474918

6.

THP9 enhances seed protein content and nitrogen-use efficiency in maize.

Huang, Yongcai; Wang, Haihai; Zhu, Yidong; Huang, Xing; Li, Shuai; Wu, Xingguo; Zhao, Yao; Bao, Zhigui; Qin, Li; Jin, Yongbo; Cui, Yahui; Ma, Guangjin; Xiao, Qiao; Wang, Qiong; Wang, Jiechen; Yang, Xuerong; Liu, Hongjun; Lu, Xiaoduo; Larkins, Brian A; Wang, Wenqin; Wu, Yongrui.

Nature ; 612(7939): 292-300, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-36385527

7.

Genetic insights into the social organization of Neanderthals.

Skov, Laurits; Peyrégne, Stéphane; Popli, Divyaratan; Iasi, Leonardo N M; Devièse, Thibaut; Slon, Viviane; Zavala, Elena I; Hajdinjak, Mateja; Sümer, Arev P; Grote, Steffi; Bossoms Mesa, Alba; López Herráez, David; Nickel, Birgit; Nagel, Sarah; Richter, Julia; Essel, Elena; Gansauge, Marie; Schmidt, Anna; Korlevic, Petra; Comeskey, Daniel; Derevianko, Anatoly P; Kharevich, Aliona; Markin, Sergey V; Talamo, Sahra; Douka, Katerina; Krajcarz, Maciej T; Roberts, Richard G; Higham, Thomas; Viola, Bence; Krivoshapkin, Andrey I; Kolobova, Kseniya A; Kelso, Janet; Meyer, Matthias; Pääbo, Svante; Peter, Benjamin M.

Nature ; 610(7932): 519-525, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-36261548

8.

Immune synaptopathies: how maternal immune activation impacts synaptic function during development.

Matteoli, Michela; Pozzi, Davide; Fossati, Matteo; Menna, Elisabetta.

EMBO J ; 42(13): e113796, 2023 07 03.

Artigo em Inglês | MEDLINE | ID: mdl-37161785

9.

Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape.

Clayton, Ellen Wright; Tritell, Alex M; Thorogood, Adrian M.

Annu Rev Genomics Hum Genet ; 24: 333-346, 2023 08 25.

Artigo em Inglês | MEDLINE | ID: mdl-36630592

10.

Trio RNA sequencing in a cohort of medically complex children.

Deshwar, Ashish R; Yuki, Kyoko E; Hou, Huayun; Liang, Yijing; Khan, Tayyaba; Celik, Alper; Ramani, Arun; Mendoza-Londono, Roberto; Marshall, Christian R; Brudno, Michael; Shlien, Adam; Meyn, M Stephen; Hayeems, Robin Z; McKinlay, Brandon J; Klentrou, Panagiota; Wilson, Michael D; Kyriakopoulou, Lianna; Costain, Gregory; Dowling, James J.

Am J Hum Genet ; 110(5): 895-900, 2023 05 04.

Artigo em Inglês | MEDLINE | ID: mdl-36990084

11.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; El Khattabi, Laila; Prontera, Paolo; Caberg, Jean-Hubert; Van Dijck, Anke; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Luana Mandarà, Giuseppa Maria; Bruccheri, Maria Grazia; Pichon, Olivier; Le Caignec, Cedric; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh.

Am J Hum Genet ; 110(12): 2015-2028, 2023 Dec 07.

Artigo em Inglês | MEDLINE | ID: mdl-37979581

12.

The rate of de novo structural variation is increased in in vitro-produced offspring and preferentially affects the paternal genome.

Lee, Young-Lim; Bouwman, Aniek C; Harland, Chad; Bosse, Mirte; Costa Monteiro Moreira, Gabriel; Veerkamp, Roel F; Mullaart, Erik; Cambisano, Nadine; Groenen, Martien A M; Karim, Latifa; Coppieters, Wouter; Georges, Michel; Charlier, Carole.

Genome Res ; 33(9): 1455-1464, 2023 09.

Artigo em Inglês | MEDLINE | ID: mdl-37793781

13.

Exome sequencing deciphers rare diseases.

Maxmen, Amy.

Cell ; 144(5): 635-7, 2011 Mar 04.

Artigo em Inglês | MEDLINE | ID: mdl-21376225

14.

A dynastic elite in monumental Neolithic society.

Cassidy, Lara M; Maoldúin, Ros Ó; Kador, Thomas; Lynch, Ann; Jones, Carleton; Woodman, Peter C; Murphy, Eileen; Ramsey, Greer; Dowd, Marion; Noonan, Alice; Campbell, Ciarán; Jones, Eppie R; Mattiangeli, Valeria; Bradley, Daniel G.

Nature ; 582(7812): 384-388, 2020 06.

Artigo em Inglês | MEDLINE | ID: mdl-32555485

15.

The inheritance of social status: England, 1600 to 2022.

Clark, Gregory.

Proc Natl Acad Sci U S A ; 120(27): e2300926120, 2023 07 04.

Artigo em Inglês | MEDLINE | ID: mdl-37364122

16.

Allostatic load in children: The cost of empathic concern.

Phua, Desiree Y; Chen, Helen; Yap, Fabian; Chong, Yap Seng; Gluckman, Peter D; Broekman, Birit F P; Eriksson, Johan G; Meaney, Michael J.

Proc Natl Acad Sci U S A ; 120(39): e2217769120, 2023 09 26.

Artigo em Inglês | MEDLINE | ID: mdl-37725642

17.

Projections of human kinship for all countries.

Alburez-Gutierrez, Diego; Williams, Iván; Caswell, Hal.

Proc Natl Acad Sci U S A ; 120(52): e2315722120, 2023 Dec 26.

Artigo em Inglês | MEDLINE | ID: mdl-38113253

18.

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

Appelbaum, Paul S; Burke, Wylie; Parens, Erik; Zeevi, David A; Arbour, Laura; Garrison, Nanibaa' A; Bonham, Vence L; Chung, Wendy K.

Am J Hum Genet ; 109(6): 981-988, 2022 06 02.

Artigo em Inglês | MEDLINE | ID: mdl-35659933

19.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukás; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M.

Am J Hum Genet ; 109(2): 361-372, 2022 02 03.

Artigo em Inglês | MEDLINE | ID: mdl-35051358

20.

A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study.

Rodriguez, Nicolette J; Furniss, C Sloane; Yurgelun, Matthew B; Ukaegbu, Chinedu; Constantinou, Pamela E; Fortes, Ileana; Caruso, Alyson; Schwartz, Alison N; Stopfer, Jill E; Underhill-Blazey, Meghan; Kenner, Barbara; Nelson, Scott H; Okumura, Sydney; Zhou, Alicia Y; Coffin, Tara B; Uno, Hajime; Horiguchi, Miki; Ocean, Allyson J; McAllister, Florencia; Lowy, Andrew M; Klein, Alison P; Madlensky, Lisa; Petersen, Gloria M; Garber, Judy E; Lippman, Scott M; Goggins, Michael G; Maitra, Anirban; Syngal, Sapna.

Gastroenterology ; 166(5): 872-885.e2, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38320723

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