Works by Scott, Alan F.

Results: 41

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

Published in:

Genetic Epidemiology, 2019, v. 43, n. 1, p. 37, doi. 10.1002/gepi.22155

By:

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

Publication type:

Article

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

Published in:

Genetic Epidemiology, 2017, v. 41, n. 1, p. 61, doi. 10.1002/gepi.22010

By:

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.

Publication type:

Article

Examining Markers in 8q24 to Explain Differences in Evidence for Association With Cleft Lip With/Without Cleft Palate Between Asians and Europeans.

Published in:

Genetic Epidemiology, 2012, v. 36, n. 4, p. 392, doi. 10.1002/gepi.21633

By:

Murray, Tanda;
Taub, Margaret A.;
Ruczinski, Ingo;
Scott, Alan F.;
Hetmanski, Jacqueline B.;
Schwender, Holger;
Patel, Poorav;
Zhang, Tian Xiao;
Munger, Ronald G.;
Wilcox, Allen J.;
Ye, Xiaoqian;
Wang, Hong;
Wu, Tao;
Wu-Chou, Yah Huei;
Shi, Bing;
Jee, Sun Ha;
Chong, Samuel;
Yeow, Vincent;
Murray, Jeffrey C.;
Marazita, Mary L.

Publication type:

Article

Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.

Published in:

Genetic Epidemiology, 2008, v. 32, n. 6, p. 505, doi. 10.1002/gepi.20323

By:

Sull, Jae Woong;
Liang, Kung-Yee;
Hetmanski, Jacqueline B.;
Fallin, Margaret Daniele;
Ingersoll, Roxann G.;
Park, Jiwan;
Wu-Chou, Yah-Huei;
Chen, Philip K.;
Chong, Samuel S.;
Cheah, Felicia;
Yeow, Vincent;
Park, Beyoung Yun;
Jee, Sun Ha;
Jabs, Ethylin Wang;
Redett, Richard;
Jung, Euiju;
Ruczinski, Ingo;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population.

Published in:

Genetic Epidemiology, 2006, v. 30, n. 7, p. 609, doi. 10.1002/gepi.20172

By:

Chi, Peter B.;
Duggal, Priya;
Kao, W.H. Linda;
Mathias, Rasika A.;
Grant, Audrey V.;
Stockton, Maria L.;
Garcia, Joe G.N.;
Ingersoll, Roxann G.;
Scott, Alan F.;
Beaty, Terri H.;
Barnes, Kathleen C.;
Fallin, M. Daniele

Publication type:

Article

Family-based analysis of MSX1 haplotypes for association with oral clefts.

Published in:

Genetic Epidemiology, 2003, v. 25, n. 2, p. 168, doi. 10.1002/gepi.10255

By:

M. Daniele Fallin;
Jacqueline B. Hetmanski;
Jiwan Park;
Alan F. Scott;
Roxann Ingersoll;
Hans A. Fuernkranz;
Iain McIntosh;
Terri H. Beaty

Publication type:

Article

Performance assessment of copy number microarray platforms using a spike-in experiment.

Published in:

Bioinformatics, 2011, v. 27, n. 8, p. 1052, doi. 10.1093/bioinformatics/btr106

By:

Halper-Stromberg, Eitan;
Frelin, Laurence;
Ruczinski, Ingo;
Scharpf, Robert;
Jie, Chunfa;
Carvalho, Benilton;
Hao, Haiping;
Hetrick, Kurt;
Jedlicka, Anne;
Dziedzic, Amanda;
Doheny, Kim;
Scott, Alan F.;
Baylin, Steve;
Pevsner, Jonathan;
Spencer, Forrest;
Irizarry, Rafael A.

Publication type:

Article

Characterization of the Rat Osteosarcoma Cell Line UMR-106 by Long-Read Technologies Identifies a Large Block of Amplified Genes Associated with Human Disease.

Published in:

Genes, 2024, v. 15, n. 10, p. 1, doi. 10.3390/genes15101254

By:

Scott, Alan F.;
Mohr, David W.;
Littrell, William A.;
Babu, Reshma;
Kokosinski, Michelle;
Stinnett, Victoria;
Madhiwala, Janvi;
Anderson, John;
Zou, Ying S.;
Gabrielson, Kathleen L.

Publication type:

Article

A Chromosome-Length Assembly of the Hawaiian Monk Seal (Neomonachus schauinslandi): A History of "Genetic Purging" and Genomic Stability.

Published in:

Genes, 2022, v. 13, n. 7, p. 1270, doi. 10.3390/genes13071270

By:

Mohr, David W.;
Gaughran, Stephen J.;
Paschall, Justin;
Naguib, Ahmed;
Pang, Andy Wing Chun;
Dudchenko, Olga;
Aiden, Erez Lieberman;
Church, Deanna M.;
Scott, Alan F.

Publication type:

Article

Characterization of the Genomic Architecture and Mutational Spectrum of a Small Cell Prostate Carcinoma.

Published in:

Genes, 2014, v. 5, n. 2, p. 366, doi. 10.3390/genes5020366

By:

Scott, Alan F.;
Mohr, David W.;
Hua Ling;
Scharpf, Robert B.;
Peng Zhang;
Liptak, Gregory S.

Publication type:

Article

Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 831, doi. 10.1038/ejhg.2008.250

By:

Jae Woong Sull;
Kung-Yee Liang;
Hetmanski, Jacqueline B.;
Fallin, Margaret Daniele;
Ingersoll, Roxanne G.;
Jiwan Park;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Chong, Samuel S.;
Cheah, Felicia;
Yeow, Vincent;
Beyoung Yun Park;
Sun Ha Jee;
Jabs, Ethylin W.;
Redett, Richard;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1249, doi. 10.1038/ng.2421

By:

Doyle, Alexander J;
Doyle, Jefferson J;
Bessling, Seneca L;
Maragh, Samantha;
Lindsay, Mark E;
Schepers, Dorien;
Gillis, Elisabeth;
Mortier, Geert;
Homfray, Tessa;
Sauls, Kimberly;
Norris, Russell A;
Huso, Nicholas D;
Leahy, Dan;
Mohr, David W;
Caulfield, Mark J;
Scott, Alan F;
Destrée, Anne;
Hennekam, Raoul C;
Arn, Pamela H;
Curry, Cynthia J

Publication type:

Article

Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 642, doi. 10.1038/ng.2271

By:

Laurie, Cathy C;
Laurie, Cecelia A;
Rice, Kenneth;
Doheny, Kimberly F;
Zelnick, Leila R;
McHugh, Caitlin P;
Ling, Hua;
Hetrick, Kurt N;
Pugh, Elizabeth W;
Amos, Chris;
Wei, Qingyi;
Wang, Li-e;
Lee, Jeffrey E;
Barnes, Kathleen C;
Hansel, Nadia N;
Mathias, Rasika;
Daley, Denise;
Beaty, Terri H;
Scott, Alan F;
Ruczinski, Ingo

Publication type:

Article

THE ROLE OF 2,3-DIPHOSPHOGLYCERATE IN MEDIATING HEMOGLOBIN FUNCTION OF MAMMALIAN RED CELLS *.

Published in:

Annals of the New York Academy of Sciences, 1975, v. 241, n. 1, p. 498, doi. 10.1111/j.1749-6632.1974.tb21906.x

By:

Bunn, H. Franklin;
Seal, Ulysses S.;
Scott, Alan F.

Publication type:

Article

Joint Testing of Genotypic and Gene-Environment Interaction Identified Novel Association for BMP4 with Non-Syndromic CL/P in an Asian Population Using Data from an International Cleft Consortium.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109038

By:

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

Publication type:

Article

BMP4 Was Associated with NSCL/P in an Asian Population.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035347

By:

Chen, Qianqian;
Wang, Hong;
Hetmanski, Jacqueline B.;
Zhang, Tianxiao;
Ruczinski, Ingo;
Schwender, Holger;
Liang, Kung Yee;
Fallin, M. Daniele;
Redett, Richard J.;
Raymond, Gerald V.;
Chou, Yah- Huei Wu;
Chen, Philip Kuo-Ting;
Yeow, Vincent;
Chong, Samuel S.;
Cheah, Felicia S. H.;
Jabs, Ethylin Wang;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

Published in:

Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132

By:

Hong Wang;
Tianxiao Zhang;
Tao Wu;
Hetmanski, Jacqueline B.;
Ruczinski, Ingo;
Schwender, Holger;
Kung Vee Liang;
Murray, Tanda;
Fallin, M. Daniele;
Redett, Richard J.;
Raymond, Gerald V.;
Sheng-Chih Jin;
Wu Chou, Yah-Huei;
Chen, Philip Kuo-Ting;
Yeow, Vincent;
Chong, Samuel S.;
Cheah, Felicia S. H.;
Sun Ha Jee;
Jabs, Ethylin W.;
Scott, Alan F.

Publication type:

Article

The genes of OMIM: A legacy of Victor McKusick.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3276, doi. 10.1002/ajmg.a.62415

By:

Scott, Alan F.;
Amberger, Joanna S.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3259, doi. 10.1002/ajmg.a.62407

By:

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

Publication type:

Article

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

Published in:

Nature, 1988, v. 332, n. 6160, p. 164, doi. 10.1038/332164a0

By:

Kazazian, Haig H.;
Wong, Corinne;
Youssoufian, Hagop;
Scott, Alan F.;
Phillips, Deborah G.;
Antonarakis, Stylianos E.

Publication type:

Article

A novel canis lupus familiaris reference genome improves variant resolution for use in breed-specific GWAS.

Published in:

Life Science Alliance, 2021, v. 4, n. 4, p. 1, doi. 10.26508/lsa.202000902

By:

Player, Robert A.;
Forsyth, Ellen R.;
Verratti, Kathleen J.;
Mohr, David W.;
Scott, Alan F.;
Bradburne, Christopher E.

Publication type:

Article

Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

Published in:

Human Genetics, 2010, v. 128, n. 4, p. 401, doi. 10.1007/s00439-010-0863-y

By:

Tao Wu;
Kung Yee Liang;
Hetmanski, Jacqueline B.;
Ruczinski, Ingo;
Fallin, Margaret Daniele;
Ingersoll, Roxann G.;
Hong Wang;
Shangzhi Huang;
Xiaoqian Ye;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Jabs, Ethylin W.;
Bing Shi;
Redett, Richard;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.

Published in:

Human Genetics, 2009, v. 126, n. 3, p. 385, doi. 10.1007/s00439-009-0680-3

By:

Jae Woong Sull;
Kung-Yee Liang;
Hetmanski, Jacqueline B.;
Tao Wu;
Fallin, Margaret Daniele;
Ingersoll, Roxann G.;
Ji Wan Park;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Chong, Samuel S.;
Cheah, Felicia;
Yeow, Vincent;
Beyoung Yun Park;
Sun Ha Jee;
Jabs, Ethylin Wang;
Redett, Richard;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

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

Published in:

Journal of Heredity, 2021, v. 112, n. 6, p. 540, doi. 10.1093/jhered/esab036

By:

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

Publication type:

Article

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 570, doi. 10.1002/mgg3.320

By:

Holzinger, Emily R.;
Li, Qing;
Parker, Margaret M.;
Hetmanski, Jacqueline B.;
Marazita, Mary L.;
Mangold, Elisabeth;
Ludwig, Kerstin U.;
Taub, Margaret A.;
Begum, Ferdouse;
Murray, Jeffrey C.;
Albacha ‐ Hejazi, Hasan;
Alqosayer, Khalid;
Al ‐ Souki, Giath;
Albasha Hejazi, Abdullatiff;
Scott, Alan F.;
Beaty, Terri H.;
Bailey ‐ Wilson, Joan E.

Publication type:

Article

Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing.

Published in:

JAMA Ophthalmology, 2014, v. 132, n. 10, p. 1215, doi. 10.1001/jamaophthalmol.2014.1731

By:

Scott, Alan F.;
Mohr, David W.;
Kasch, Laura M.;
Barton, Jill A.;
Pittiglio, Raquel;
Ingersoll, Roxann;
Craig, Brian;
Marosy, Beth A.;
Doheny, Kimberly F.;
Bromley, William C.;
Roderick, Thomas H.;
Chassaing, Nicolas;
Calvas, Patrick;
Prabhu, Shreya S.;
Jabs, Ethylin Wang

Publication type:

Article

Novel Polymorphisms in the Myosin Light Chain Kinase Gene Confer Risk for Acute Lung Injury.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2006, v. 34, n. 4, p. 487, doi. 10.1165/rcmb.2005-0404OC

By:

Li Gao;
Grant, Audrey;
Halder, Indrani;
Brower, Roy;
Sevransky, Jonathan;
Maloney, James P.;
Moss, Marc;
Shanholtz, Carl;
Yates, Charles R.;
Meduri, Gianfranco Umberto;
Shriver, Mark D.;
Ingersoll, Roxann;
Scott, Alan F.;
Beaty, Terri H.;
Moitra, Jaideep;
Shwu Fan Ma;
Ye, Shui Q.;
Barnes, Kathleen C.;
Garcia, Joe G. N.

Publication type:

Article

Novel Polymorphisms in Myosin Light Chain Kinase Gene Confer Risk for Acute Lung Injury.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2006, v. 34, n. 4, p. 410, doi. 10.1165/rcmb.2005-0404oc

By:

Li Gao;
Grant, Audrey;
Halder, Indrani;
Brower, Roy;
Sevransky, Jonathan;
Maloney, James P.;
Moss, Marc;
Shanholtz, Carl;
Yates, C. Ryan;
Meduri, Gianfranco Umberto;
Shriver, Mark D.;
Ingersoll, Roxann;
Scott, Alan F.;
Beaty, Terri H.;
Moitra, Jaideep;
Shwu Fan Ma;
Shui Qing Ye;
Barnes, Kathleen C.;
Garcia, Joe G. N.

Publication type:

Article

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.

Published in:

BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-24

By:

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

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2019, v. 47, n. D1, p. D1038, doi. 10.1093/nar/gky1151

By:

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

Publication type:

Article

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Published in:

Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d514

By:

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

Publication type:

Article

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Published in:

Nucleic Acids Research, 2002, v. 30, n. 1, p. 52, doi. 10.1093/nar/30.1.52

By:

Hamosh, Ada;
Scott, Alan F.;
Amberger, Joanna;
Bocchini, Carol;
Valle, David;
McKusick, Victor A.

Publication type:

Article

Fast detection of de novo copy number variants from SNP arrays for case-parent trios.

Published in:

BMC Bioinformatics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2105-13-330

By:

Scharpf, Robert B.;
Beaty, Terri H.;
Schwender, Holger;
Younkin, Samuel G.;
Scott, Alan F.;
Ruczinski, Ingo

Publication type:

Article

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

Published in:

Bioinformatics, 2019, v. 35, n. 4, p. 571, doi. 10.1093/bioinformatics/bty677

By:

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

Publication type:

Article

Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing.

Published in:

GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac068

By:

Dahn, Hollis A;
Mountcastle, Jacquelyn;
Balacco, Jennifer;
Winkler, Sylke;
Bista, Iliana;
Schmitt, Anthony D;
Pettersson, Olga Vinnere;
Formenti, Giulio;
Oliver, Karen;
Smith, Michelle;
Tan, Wenhua;
Kraus, Anne;
Mac, Stephen;
Komoroske, Lisa M;
Lama, Tanya;
Crawford, Andrew J;
Murphy, Robert W;
Brown, Samara;
Scott, Alan F;
Morin, Phillip A

Publication type:

Article

Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01886-y

By:

Zhang, Weiying;
Scott, Alan F.;
Mohr, David W.;
Ingersoll, Roxann;
Shoucair, Peter E.;
Bream, Jay H.;
Nilles, Tricia L.;
Zhang, Hao;
Chen, Yue;
Mailliard, Robbie B.;
Margolick, Joseph B.

Publication type:

Article

Heavy Enzymes and the Rational Redesign of Protein Catalysts.

Published in:

ChemBioChem, 2019, v. 20, n. 22, p. 2807, doi. 10.1002/cbic.201900134

By:

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

Publication type:

Article

Online Mendelian Inheritance In Man (OMIM).

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G

By:

Hamosh, Ada;
Scott, Alan F.;
Amberger, Joanna;
Valle, David;
McKusick, Victor A.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2015, v. 43, n. D1, p. D789, doi. 10.1093/nar/gku1205

By:

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

Publication type:

Article

McKusick's Online Mendelian Inheritance in Man (OMIM®).

Published in:

Nucleic Acids Research, 2009, v. 37, n. suppl_1, p. D793, doi. 10.1093/nar/gkn665

By:

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

Publication type:

Article

Chromosomal‐level genome assembly of the scimitar‐horned oryx: Insights into diversity and demography of a species extinct in the wild.

Published in:

Molecular Ecology Resources, 2020, v. 20, n. 6, p. 1668, doi. 10.1111/1755-0998.13181

By:

Humble, Emily;
Dobrynin, Pavel;
Senn, Helen;
Chuven, Justin;
Scott, Alan F.;
Mohr, David W.;
Dudchenko, Olga;
Omer, Arina D.;
Colaric, Zane;
Lieberman Aiden, Erez;
Al Dhaheri, Shaikha Salem;
Wildt, David;
Oliaji, Shireen;
Tamazian, Gaik;
Pukazhenthi, Budhan;
Ogden, Rob;
Koepfli, Klaus‐Peter

Publication type:

Article