Search | Virtual Health Library

1.

Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories.

Bentley, Blair P; Carrasco-Valenzuela, Tomás; Ramos, Elisa K S; Pawar, Harvinder; Souza Arantes, Larissa; Alexander, Alana; Banerjee, Shreya M; Masterson, Patrick; Kuhlwilm, Martin; Pippel, Martin; Mountcastle, Jacquelyn; Haase, Bettina; Uliano-Silva, Marcela; Formenti, Giulio; Howe, Kerstin; Chow, William; Tracey, Alan; Sims, Ying; Pelan, Sarah; Wood, Jonathan; Yetsko, Kelsey; Perrault, Justin R; Stewart, Kelly; Benson, Scott R; Levy, Yaniv; Todd, Erica V; Shaffer, H Bradley; Scott, Peter; Henen, Brian T; Murphy, Robert W; Mohr, David W; Scott, Alan F; Duffy, David J; Gemmell, Neil J; Suh, Alexander; Winkler, Sylke; Thibaud-Nissen, Françoise; Nery, Mariana F; Marques-Bonet, Tomas; Antunes, Agostinho; Tikochinski, Yaron; Dutton, Peter H; Fedrigo, Olivier; Myers, Eugene W; Jarvis, Erich D; Mazzoni, Camila J; Komoroske, Lisa M.

Proc Natl Acad Sci U S A ; 120(7): e2201076120, 2023 02 14.

Article in English | MEDLINE | ID: mdl-36749728

2.

Plasmodium falciparum hydroxymethylbilane synthase does not house any cosynthase activity within the haem biosynthetic pathway.

Scott, Alan F; Deery, Evelyne; Lawrence, Andrew D; Warren, Martin J.

Microbiology (Reading) ; 167(10)2021 10.

Article in English | MEDLINE | ID: mdl-34661520

3.

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.

Hamosh, Ada; Amberger, Joanna S; Bocchini, Carol; Scott, Alan F; Rasmussen, Sonja A.

Am J Med Genet A ; 185(11): 3259-3265, 2021 11.

Article in English | MEDLINE | ID: mdl-34169650

4.

Draft de novo Genome Assembly of the Elusive Jaguarundi, Puma yagouaroundi.

Tamazian, Gaik; Dobrynin, Pavel; Zhuk, Anna; Zhernakova, Daria V; Perelman, Polina L; Serdyukova, Natalia A; Graphodatsky, Alexander S; Komissarov, Aleksey; Kliver, Sergei; Cherkasov, Nikolay; Scott, Alan F; Mohr, David W; Koepfli, Klaus-Peter; O'Brien, Stephen J; Krasheninnikova, Ksenia.

J Hered ; 112(6): 540-548, 2021 11 01.

Article in English | MEDLINE | ID: mdl-34146095

5.

OMIM.org: leveraging knowledge across phenotype-gene relationships.

Amberger, Joanna S; Bocchini, Carol A; Scott, Alan F; Hamosh, Ada.

Nucleic Acids Res ; 47(D1): D1038-D1043, 2019 01 08.

Article in English | MEDLINE | ID: mdl-30445645

6.

Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.

Bureau, Alexandre; Begum, Ferdouse; Taub, Margaret A; Hetmanski, Jacqueline B; Parker, Margaret M; Albacha-Hejazi, Hasan; Scott, Alan F; Murray, Jeffrey C; Marazita, Mary L; Bailey-Wilson, Joan E; Beaty, Terri H; Ruczinski, Ingo.

Genet Epidemiol ; 43(1): 37-49, 2019 02.

Article in English | MEDLINE | ID: mdl-30246882

7.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande, Natasha T; Riggs, Erin Rooney; Buchanan, Adam H; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A; Sneddon, Tam P; Wright, Matt W; Milko, Laura V; Cherry, J Michael; Giovanni, Monica A; Murray, Michael F; O'Daniel, Julianne M; Ramos, Erin M; Santani, Avni B; Scott, Alan F; Plon, Sharon E; Rehm, Heidi L; Martin, Christa L; Berg, Jonathan S.

Am J Hum Genet ; 100(6): 895-906, 2017 Jun 01.

Article in English | MEDLINE | ID: mdl-28552198

8.

Detection of de novo copy number deletions from targeted sequencing of trios.

Fu, Jack M; Leslie, Elizabeth J; Scott, Alan F; Murray, Jeffrey C; Marazita, Mary L; Beaty, Terri H; Scharpf, Robert B; Ruczinski, Ingo.

Bioinformatics ; 35(4): 571-578, 2019 02 15.

Article in English | MEDLINE | ID: mdl-30084993

9.

Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis.

Qin, Hai-De; Liao, Xiao-Yu; Chen, Yuan-Bin; Huang, Shao-Yi; Xue, Wen-Qiong; Li, Fang-Fang; Ge, Xiao-Song; Liu, De-Qing; Cai, Qiuyin; Long, Jirong; Li, Xi-Zhao; Hu, Ye-Zhu; Zhang, Shao-Dan; Zhang, Lan-Jun; Lehrman, Benjamin; Scott, Alan F; Lin, Dongxin; Zeng, Yi-Xin; Shugart, Yin Yao; Jia, Wei-Hua.

Am J Hum Genet ; 98(4): 709-27, 2016 Apr 07.

Article in English | MEDLINE | ID: mdl-27058444

10.

Response to Biesecker et al.

Hamosh, Ada; Amberger, Joanna S; Bocchini, Carol A; Bodurtha, Joann; Bult, Carol J; Chute, Christopher G; Cutting, Garry R; Dietz, Harry C; Firth, Helen V; Gibbs, Richard A; Grody, Wayne W; Haendel, Melissa A; Lupski, James R; Posey, Jennifer E; Robinson, Peter N; Schriml, Lynn M; Scott, Alan F; Sobreira, Nara L; Valle, David; Wu, Nan; Rasmussen, Sonja A.

Am J Hum Genet ; 108(9): 1807-1808, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34478655

11.

Heavy Enzymes and the Rational Redesign of Protein Catalysts.

Scott, Alan F; Luk, Louis Y-P; Tuñón, Iñaki; Moliner, Vicent; Allemann, Rudolf K.

Chembiochem ; 20(22): 2807-2812, 2019 11 18.

Article in English | MEDLINE | ID: mdl-31016852

12.

Crystal Structure and Biophysical Analysis of Furfural-Detoxifying Aldehyde Reductase from Clostridium beijerinckii.

Scott, Alan F; Cresser-Brown, Joel; Williams, Thomas L; Rizkallah, Pierre J; Jin, Yi; Luk, Louis Y-P; Allemann, Rudolf K.

Appl Environ Microbiol ; 85(15)2019 08 01.

Article in English | MEDLINE | ID: mdl-31101612

13.

Whole exome association of rare deletions in multiplex oral cleft families.

Fu, Jack; Beaty, Terri H; Scott, Alan F; Hetmanski, Jacqueline; Parker, Margaret M; Wilson, Joan E Bailey; Marazita, Mary L; Mangold, Elisabeth; Albacha-Hejazi, Hasan; Murray, Jeffrey C; Bureau, Alexandre; Carey, Jacob; Cristiano, Stephen; Ruczinski, Ingo; Scharpf, Robert B.

Genet Epidemiol ; 41(1): 61-69, 2017 Jan.

Article in English | MEDLINE | ID: mdl-27910131

14.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong, Jessica X; Buckingham, Kati J; Jhangiani, Shalini N; Boehm, Corinne; Sobreira, Nara; Smith, Joshua D; Harrell, Tanya M; McMillin, Margaret J; Wiszniewski, Wojciech; Gambin, Tomasz; Coban Akdemir, Zeynep H; Doheny, Kimberly; Scott, Alan F; Avramopoulos, Dimitri; Chakravarti, Aravinda; Hoover-Fong, Julie; Mathews, Debra; Witmer, P Dane; Ling, Hua; Hetrick, Kurt; Watkins, Lee; Patterson, Karynne E; Reinier, Frederic; Blue, Elizabeth; Muzny, Donna; Kircher, Martin; Bilguvar, Kaya; López-Giráldez, Francesc; Sutton, V Reid; Tabor, Holly K; Leal, Suzanne M; Gunel, Murat; Mane, Shrikant; Gibbs, Richard A; Boerwinkle, Eric; Hamosh, Ada; Shendure, Jay; Lupski, James R; Lifton, Richard P; Valle, David; Nickerson, Deborah A; Bamshad, Michael J.

Am J Hum Genet ; 97(2): 199-215, 2015 Aug 06.

Article in English | MEDLINE | ID: mdl-26166479

15.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie, Elizabeth J; Taub, Margaret A; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C; Zhang, Qunyuan; Carlson, Jenna C; Hetmanski, Jacqueline B; Wang, Hang; Larson, David E; Fulton, Robert S; Kousa, Youssef A; Fakhouri, Walid D; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T; Scott, Alan F; Wehby, George L; Christensen, Kaare; Czeizel, Andrew E; Deleyiannis, Frederic W-B; Schutte, Brian C; Wilson, Richard K; Cornell, Robert A; Lidral, Andrew C; Weinstock, George M; Beaty, Terri H; Marazita, Mary L; Murray, Jeffrey C.

Am J Hum Genet ; 96(3): 397-411, 2015 Mar 05.

Article in English | MEDLINE | ID: mdl-25704602

16.

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger, Joanna S; Bocchini, Carol A; Schiettecatte, François; Scott, Alan F; Hamosh, Ada.

Nucleic Acids Res ; 43(Database issue): D789-98, 2015 Jan.

Article in English | MEDLINE | ID: mdl-25428349

17.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Hunter, Jessica Ezzell; Irving, Stephanie A; Biesecker, Leslie G; Buchanan, Adam; Jensen, Brian; Lee, Kristy; Martin, Christa Lese; Milko, Laura; Muessig, Kristin; Niehaus, Annie D; O'Daniel, Julianne; Piper, Margaret A; Ramos, Erin M; Schully, Sheri D; Scott, Alan F; Slavotinek, Anne; Sobreira, Nara; Strande, Natasha; Weaver, Meredith; Webber, Elizabeth M; Williams, Marc S; Berg, Jonathan S; Evans, James P; Goddard, Katrina A B.

Genet Med ; 18(12): 1258-1268, 2016 12.

Article in English | MEDLINE | ID: mdl-27124788

18.

The genes of OMIM: A legacy of Victor McKusick.

Scott, Alan F; Amberger, Joanna S.

Am J Med Genet A ; 185(11): 3276-3283, 2021 11.

Article in English | MEDLINE | ID: mdl-34214258

19.

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Younkin, Samuel G; Scharpf, Robert B; Schwender, Holger; Parker, Margaret M; Scott, Alan F; Marazita, Mary L; Beaty, Terri H; Ruczinski, Ingo.

Birth Defects Res A Clin Mol Teratol ; 103(4): 276-83, 2015 Apr.

Article in English | MEDLINE | ID: mdl-25776870

20.

Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.

Bu, Lingxue; Chen, Qianqian; Wang, Hong; Zhang, Tianxiao; Hetmanski, Jacqueline B; Schwender, Holger; Parker, Margaret; Chou, Yah-Huei Wu; Yeow, Vincent; Chong, Samuel S; Zhang, Bo; Jabs, Ethylin Wang; Scott, Alan F; Beaty, Terri H.

Birth Defects Res A Clin Mol Teratol ; 103(10): 857-62, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26278207

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