Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Gene Discovery for Complex Traits: Lessons from Africa.

McClellan, Jon M; Lehner, Thomas; King, Mary-Claire.

Cell ; 171(2): 261-264, 2017 Oct 05.

Artigo em Inglês | MEDLINE | ID: mdl-28985555

2.

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Gulsuner, Suleyman; Walsh, Tom; Watts, Amanda C; Lee, Ming K; Thornton, Anne M; Casadei, Silvia; Rippey, Caitlin; Shahin, Hashem; Nimgaonkar, Vishwajit L; Go, Rodney C P; Savage, Robert M; Swerdlow, Neal R; Gur, Raquel E; Braff, David L; King, Mary-Claire; McClellan, Jon M.

Cell ; 154(3): 518-29, 2013 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-23911319

3.

Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections.

Tobin, David M; Roca, Francisco J; Oh, Sungwhan F; McFarland, Ross; Vickery, Thad W; Ray, John P; Ko, Dennis C; Zou, Yuxia; Bang, Nguyen D; Chau, Tran T H; Vary, Jay C; Hawn, Thomas R; Dunstan, Sarah J; Farrar, Jeremy J; Thwaites, Guy E; King, Mary-Claire; Serhan, Charles N; Ramakrishnan, Lalita.

Cell ; 148(3): 434-46, 2012 Feb 03.

Artigo em Inglês | MEDLINE | ID: mdl-22304914

4.

Genetic heterogeneity in human disease.

McClellan, Jon; King, Mary-Claire.

Cell ; 141(2): 210-7, 2010 Apr 16.

Artigo em Inglês | MEDLINE | ID: mdl-20403315

5.

The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans.

Tobin, David M; Vary, Jay C; Ray, John P; Walsh, Gregory S; Dunstan, Sarah J; Bang, Nguyen D; Hagge, Deanna A; Khadge, Saraswoti; King, Mary-Claire; Hawn, Thomas R; Moens, Cecilia B; Ramakrishnan, Lalita.

Cell ; 140(5): 717-30, 2010 Mar 05.

Artigo em Inglês | MEDLINE | ID: mdl-20211140

6.

2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.

King, Mary-Claire.

Am J Hum Genet ; 108(3): 386-391, 2021 03 04.

Artigo em Inglês | MEDLINE | ID: mdl-33667391

7.

Targeted long-read sequencing identifies missing disease-causing variation.

Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E.

Am J Hum Genet ; 108(8): 1436-1449, 2021 08 05.

Artigo em Inglês | MEDLINE | ID: mdl-34216551

8.

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.

Freund, Tal; Baxter, Sarah K; Walsh, Tom; Golan, Hana; Kapelushnik, Joseph; Abramsohn-Goldenberg, Michal; Benor, Shira; Sarid, Nadav; Ram, Ron; Alcalay, Yifat; Segel, Reeval; Renbaum, Paul; Stepensky, Polina; King, Mary-Claire; Torgerson, Troy R; Hagin, David.

J Clin Immunol ; 43(1): 151-164, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36063261

9.

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.

Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Luba; Lahad, Amnon; King, Mary-Claire; Levy, Ephrat Lahad; Segel, Reeval.

J Med Genet ; 59(8): 759-767, 2022 08.

Artigo em Inglês | MEDLINE | ID: mdl-34321325

10.

Genomic analysis of inherited hearing loss in the Palestinian population.

Abu Rayyan, Amal; Kamal, Lara; Casadei, Silvia; Brownstein, Zippora; Zahdeh, Fouad; Shahin, Hashem; Canavati, Christina; Dweik, Dima; Jaraysa, Tamara; Rabie, Grace; Carlson, Ryan J; Gulsuner, Suleyman; Lee, Ming K; Avraham, Karen B; Walsh, Tom; King, Mary-Claire; Kanaan, Moien N.

Proc Natl Acad Sci U S A ; 117(33): 20070-20076, 2020 08 18.

Artigo em Inglês | MEDLINE | ID: mdl-32747562

11.

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter, Sarah K; Walsh, Tom; Casadei, Silvia; Eckert, Mary M; Allenspach, Eric J; Hagin, David; Segundo, Gesmar; Lee, Ming K; Gulsuner, Suleyman; Shirts, Brian H; Sullivan, Kathleen E; Keller, Michael D; Torgerson, Troy R; King, Mary-Claire.

J Allergy Clin Immunol ; 149(1): 327-339, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-33864888

12.

Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Felix, Gabriela E S; Guindalini, Rodrigo Santa Cruz; Zheng, Yonglan; Walsh, Tom; Sveen, Elisabeth; Lopes, Taisa Manuela Machado; Côrtes, Juliana; Zhang, Jing; Carôzo, Polyanna; Santos, Irlânia; Bonfim, Thaís Ferreira; Garicochea, Bernardo; Toralles, Maria Betânia Pereira; Meyer, Roberto; Netto, Eduardo Martins; Abe-Sandes, Kiyoko; King, Mary-Claire; de Oliveira Nascimento, Ivana Lucia; Olopade, Olufunmilayo I.

Breast Cancer Res Treat ; 193(2): 485-494, 2022 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-35353237

13.

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.

Walsh, Tom; Casadei, Silvia; Munson, Katherine M; Eng, Mary; Mandell, Jessica B; Gulsuner, Suleyman; King, Mary-Claire.

J Med Genet ; 58(12): 850-852, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-33060287

14.

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei, Silvia; Gulsuner, Suleyman; Shirts, Brian H; Mandell, Jessica B; Kortbawi, Hannah M; Norquist, Barbara S; Swisher, Elizabeth M; Lee, Ming K; Goldberg, Yael; O'Connor, Robert; Tan, Zheng; Pritchard, Colin C; King, Mary-Claire; Walsh, Tom.

Proc Natl Acad Sci U S A ; 116(52): 26798-26807, 2019 Dec 26.

Artigo em Inglês | MEDLINE | ID: mdl-31843900

15.

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.

Hassan, Raffit; Morrow, Betsy; Thomas, Anish; Walsh, Tom; Lee, Ming K; Gulsuner, Suleyman; Gadiraju, Meghana; Panou, Vasiliki; Gao, Shaojian; Mian, Idrees; Khan, Javed; Raffeld, Mark; Patel, Snehal; Xi, Liqiang; Wei, Jun S; Hesdorffer, Mary; Zhang, Jingli; Calzone, Kathleen; Desai, Arpita; Padiernos, Emerson; Alewine, Christine; Schrump, David S; Steinberg, Seth M; Kindler, Hedy L; King, Mary-Claire; Churpek, Jane E.

Proc Natl Acad Sci U S A ; 116(18): 9008-9013, 2019 04 30.

Artigo em Inglês | MEDLINE | ID: mdl-30975761

16.

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).

Seo, Aaron; Gulsuner, Suleyman; Pierce, Sarah; Ben-Harosh, Miri; Shalev, Hanna; Walsh, Tom; Krasnov, Tanya; Dgany, Orly; Doulatov, Sergei; Tamary, Hannah; Shimamura, Akiko; King, Mary-Claire.

Hum Mol Genet ; 28(1): 133-142, 2019 01 01.

Artigo em Inglês | MEDLINE | ID: mdl-30247636

17.

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

Shirts, Brian H; Konnick, Eric Q; Upham, Sarah; Walsh, Tom; Ranola, John Michael O; Jacobson, Angela L; King, Mary-Claire; Pearlman, Rachel; Hampel, Heather; Pritchard, Colin C.

Am J Hum Genet ; 103(1): 19-29, 2018 07 05.

Artigo em Inglês | MEDLINE | ID: mdl-29887214

18.

Essential Role of BRCA2 in Ovarian Development and Function.

Weinberg-Shukron, Ariella; Rachmiel, Mariana; Renbaum, Paul; Gulsuner, Suleyman; Walsh, Tom; Lobel, Orit; Dreifuss, Amatzia; Ben-Moshe, Avital; Zeligson, Sharon; Segel, Reeval; Shore, Tikva; Kalifa, Rachel; Goldberg, Michal; King, Mary-Claire; Gerlitz, Offer; Levy-Lahad, Ephrat; Zangen, David.

N Engl J Med ; 379(11): 1042-1049, 2018 09 13.

Artigo em Inglês | MEDLINE | ID: mdl-30207912

19.

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce, Sarah B; Stewart, Mikaela D; Gulsuner, Suleyman; Walsh, Tom; Dhall, Abhinav; McClellan, Jon M; Klevit, Rachel E; King, Mary-Claire.

Proc Natl Acad Sci U S A ; 115(7): 1558-1563, 2018 02 13.

Artigo em Inglês | MEDLINE | ID: mdl-29386386

20.

BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.

Stewart, Mikaela D; Zelin, Elena; Dhall, Abhinav; Walsh, Tom; Upadhyay, Esha; Corn, Jacob E; Chatterjee, Champak; King, Mary-Claire; Klevit, Rachel E.

Proc Natl Acad Sci U S A ; 115(6): 1316-1321, 2018 02 06.

Artigo em Inglês | MEDLINE | ID: mdl-29367421

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