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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99091-5
By:
- Deaton, Aimee M.;
- Parker, Margaret M.;
- Ward, Lucas D.;
- Flynn-Carroll, Alexander O.;
- BonDurant, Lucas;
- Hinkle, Gregory;
- Akbari, Parsa;
- Lotta, Luca A.;
- Regeneron Genetics Center;
- RGC Management and Leadership Team;
- Abecasis, Goncalo;
- Baras, Aris;
- Cantor, Michael;
- Coppola, Giovanni;
- Economides, Aris;
- Overton, John D.;
- Reid, Jeffrey G.;
- Shuldiner, Alan;
- Karalis, Katia;
- Deubler, Andrew
Publication type:
Article
Association of Thyroid Function with Blood Pressure and Cardiovascular Disease: A Mendelian Randomization.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1306, doi. 10.3390/jpm11121306
By:
- Giontella, Alice;
- Lotta, Luca A.;
- Overton, John D.;
- Baras, Aris;
- Sartorio, Andrea;
- Minuz, Pietro;
- Gill, Dipender;
- Melander, Olle;
- Fava, Cristiano
Publication type:
Article
Genomic landscape of cutaneous T cell lymphoma.
Published in:
Nature Genetics, 2015, v. 47, n. 9, p. 1011, doi. 10.1038/ng.3356
By:
- Choi, Jaehyuk;
- Maman, Yaakov;
- Walradt, Trent;
- Wang, Tiffany;
- Subtil, Antonio;
- Edelson, Richard L;
- Barbarotta, Lisa;
- Boggon, Titus J;
- Goh, Gerald;
- Tordoff, Jesse;
- Devine, Lesley;
- Lifton, Richard P;
- Hong, Bok S;
- Liu, Kristina J;
- Lewis, Julia M;
- Chen, Kan;
- Carlson, Kacie;
- Foss, Francine M;
- Overton, John D;
- Schatz, David G
Publication type:
Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Published in:
Nature Genetics, 2013, v. 45, n. 9, p. 1050, doi. 10.1038/ng.2695
By:
- Scholl, Ute I;
- Goh, Gerald;
- Stölting, Gabriel;
- de Oliveira, Regina Campos;
- Choi, Murim;
- Overton, John D;
- Fonseca, Annabelle L;
- Korah, Reju;
- Starker, Lee F;
- Kunstman, John W;
- Prasad, Manju L;
- Hartung, Erum A;
- Mauras, Nelly;
- Benson, Matthew R;
- Brady, Tammy;
- Shapiro, Jay R;
- Loring, Erin;
- Nelson-Williams, Carol;
- Libutti, Steven K;
- Mane, Shrikant
Publication type:
Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
By:
- Lemaire, Mathieu;
- Frémeaux-Bacchi, Véronique;
- Schaefer, Franz;
- Choi, Murim;
- Tang, Wai Ho;
- Le Quintrec, Moglie;
- Fakhouri, Fadi;
- Taque, Sophie;
- Nobili, François;
- Martinez, Frank;
- Ji, Weizhen;
- Overton, John D;
- Mane, Shrikant M;
- Nürnberg, Gudrun;
- Altmüller, Janine;
- Thiele, Holger;
- Morin, Denis;
- Deschenes, Georges;
- Baudouin, Véronique;
- Llanas, Brigitte
Publication type:
Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Published in:
2015
By:
- Juhlin, C Christofer;
- Goh, Gerald;
- Healy, James M;
- Fonseca, Annabelle L;
- Scholl, Ute I;
- Stenman, Adam;
- Kunstman, John W;
- Brown, Taylor C;
- Overton, John D;
- Mane, Shrikant M;
- Nelson-Williams, Carol;
- Bäckdahl, Martin;
- Suttorp, Anna-Carinna;
- Haase, Matthias;
- Choi, Murim;
- Schlessinger, Joseph;
- Rimm, David L;
- Höög, Anders;
- Prasad, Manju L;
- Korah, Reju
Publication type:
journal article
Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies.
Published in:
2022
By:
- Cavazos, Taylor B.;
- Kachuri, Linda;
- Graff, Rebecca E.;
- Nierenberg, Jovia L.;
- Thai, Khanh K.;
- Alexeeff, Stacey;
- Van Den Eeden, Stephen;
- Corley, Douglas A.;
- Kushi, Lawrence H.;
- Regeneron Genetics Center;
- Abecasis, Goncalo;
- Baras, Aris;
- Cantor, Michael;
- Coppola, Giovanni;
- Deubler, Andrew;
- Economides, Aris;
- Karalis, Katia;
- Lotta, Luca A.;
- Overton, John D.;
- Reid, Jeffrey G.
Publication type:
journal article
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Published in:
Journal of Clinical Immunology, 2019, v. 39, n. 4, p. 430, doi. 10.1007/s10875-019-00631-6
By:
- Kurolap, Alina;
- Eshach Adiv, Orly;
- Konnikova, Liza;
- Werner, Lael;
- Gonzaga-Jauregui, Claudia;
- Steinberg, Maya;
- Mitsialis, Vanessa;
- Mory, Adi;
- Nunberg, Moran Y.;
- Wall, Sarah;
- Shaoul, Ron;
- Overton, John D.;
- Shuldiner, Alan R.;
- Zohar, Yaniv;
- Paperna, Tamar;
- Snapper, Scott B.;
- Shouval, Dror S.;
- Baris Feldman, Hagit
Publication type:
Article
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 4, p. 1149, doi. 10.1038/jid.2013.430
By:
- Levinsohn, Jonathan L;
- Teng, Joyce;
- Craiglow, Brittany G;
- Loring, Erin C;
- Burrow, T Andrew;
- Mane, Shrikant S;
- Overton, John D;
- Lifton, Richard P;
- McNiff, Jennifer M;
- Lucky, Anne W;
- Choate, Keith A
Publication type:
Article
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 827, doi. 10.1038/jid.2012.379
By:
- Levinsohn, Jonathan L;
- Tian, Li C;
- Boyden, Lynn M;
- McNiff, Jennifer M;
- Narayan, Deepak;
- Loring, Erin S;
- Yun, Duri;
- Sugarman, Jeffrey L;
- Overton, John D;
- Mane, Shrikant M;
- Lifton, Richard P;
- Paller, Amy S;
- Wagner, Annette M;
- Antaya, Richard J;
- Choate, Keith A
Publication type:
Article
Neoliberalism is dead, long live neoliberalism? Neostructuralism and the international aid regime of the 2000s.
Published in:
Progress in Development Studies, 2011, v. 11, n. 4, p. 307, doi. 10.1177/146499341001100403
By:
- Murray, Warwick E.;
- Overton, John D.
Publication type:
Article
Causal Effect of Adiposity Measures on Blood Pressure Traits in 2 Urban Swedish Cohorts: A Mendelian Randomization Study.
Published in:
2021
By:
- Giontella, Alice;
- Lotta, Luca A.;
- Overton, John D.;
- Baras, Aris;
- Center, Regeneron Genetics;
- Minuz, Pietro;
- Melander, Olle;
- Gill, Dipender;
- Fava, Cristiano;
- Regeneron Genetics Center
Publication type:
journal article
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84938-8
By:
- Horowitz, Julie E.;
- Warner, Neil;
- Staples, Jeffrey;
- Crowley, Eileen;
- Gosalia, Nehal;
- Murchie, Ryan;
- Van Hout, Cristopher;
- Fiedler, Karoline;
- Welch, Gabriel;
- King, Alejandra Klauer;
- Reid, Jeffrey G.;
- Overton, John D.;
- Baras, Aris;
- Shuldiner, Alan R.;
- Griffiths, Anne;
- Gottesman, Omri;
- Muise, Aleixo M.;
- Gonzaga-Jauregui, Claudia
Publication type:
Article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
By:
- Williams, Katie B;
- Brigatti, Karlla W;
- Puffenberger, Erik G;
- Gonzaga-Jauregui, Claudia;
- Griffin, Laurie B;
- Martinez, Erick D;
- Wenger, Olivia K;
- Yoder, Mark A;
- Kandula, Vinay V R;
- Fox, Michael D;
- Demczko, Matthew M;
- Poskitt, Laura;
- Furuya, Katryn N;
- Reid, Jeffrey G;
- Overton, John D;
- Baras, Aris;
- Miles, Lili;
- Radhakrishnan, Kadakkal;
- Carson, Vincent J;
- Antonellis, Anthony
Publication type:
Article
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010
By:
- Gorvin, Caroline M.;
- Metpally, Raghu;
- Stokes, Victoria J.;
- Hannan, Fadil M.;
- Krishnamurthy, Sarath B.;
- Overton, John D.;
- Reid, Jeffrey G.;
- Breitwieser, Gerda E.;
- Thakker, Rajesh V.
Publication type:
Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
By:
- Lim, Young H.;
- Ovejero, Diana;
- Sugarman, Jeffrey S.;
- DeKlotz, Cynthia M.C.;
- Maruri, Ann;
- Eichenfield, Lawrence F.;
- Kelley, Patrick K.;
- Jüppner, Harald;
- Gottschalk, Michael;
- Tifft, Cynthia J.;
- Gafni, Rachel I.;
- Boyce, Alison M.;
- Cowen, Edward W.;
- Bhattacharyya, Nisan;
- Guthrie, Lori C.;
- Gahl, William A.;
- Golas, Gretchen;
- Loring, Erin C.;
- Overton, John D.;
- Mane, Shrikant M.
Publication type:
Article
De novo mutations in histone-modifying genes in congenital heart disease.
Published in:
Nature, 2013, v. 498, n. 7453, p. 220, doi. 10.1038/nature12141
By:
- Zaidi, Samir;
- Choi, Murim;
- Wakimoto, Hiroko;
- Ma, Lijiang;
- Jiang, Jianming;
- Overton, John D.;
- Romano-Adesman, Angela;
- Bjornson, Robert D.;
- Breitbart, Roger E.;
- Brown, Kerry K.;
- Carriero, Nicholas J.;
- Cheung, Yee Him;
- Deanfield, John;
- DePalma, Steve;
- Fakhro, Khalid A.;
- Glessner, Joseph;
- Hakonarson, Hakon;
- Italia, Michael J.;
- Kaltman, Jonathan R.;
- Kaski, Juan
Publication type:
Article
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Published in:
Nature, 2012, v. 485, n. 7397, p. 237, doi. 10.1038/nature10945
By:
- Sanders, Stephan J.;
- Murtha, Michael T.;
- Gupta, Abha R.;
- Murdoch, John D.;
- Raubeson, Melanie J.;
- Willsey, A. Jeremy;
- Ercan-Sencicek, A. Gulhan;
- DiLullo, Nicholas M.;
- Parikshak, Neelroop N.;
- Stein, Jason L.;
- Walker, Michael F.;
- Ober, Gordon T.;
- Teran, Nicole A.;
- Song, Youeun;
- El-Fishawy, Paul;
- Murtha, Ryan C.;
- Choi, Murim;
- Overton, John D.;
- Bjornson, Robert D.;
- Carriero, Nicholas J.
Publication type:
Article
Understanding coups.
Published in:
Asia Pacific Viewpoint, 2003, v. 44, n. 3, p. 351, doi. 10.1111/j.1467-8373.2003.00219.x
By:
- Overton, John D.
Publication type:
Article
Flexible and scalable genotyping-by-sequencing strategies for population studies.
Published in:
BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-979
By:
- Heffelfinger, Christopher;
- Fragoso, Christopher A.;
- Moreno, Maria A.;
- Overton, John D.;
- Mottinger, John P.;
- Hongyu Zhao;
- Tohme, Joe;
- Dellaporta, Stephen L.
Publication type:
Article
Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Published in:
Genetic Epidemiology, 2021, v. 45, n. 6, p. 664, doi. 10.1002/gepi.22392
By:
- Gao, Chuan;
- Marcketta, Anthony;
- Backman, Joshua D.;
- O'Dushlaine, Colm;
- Staples, Jeffrey;
- Ferreira, Manuel Allen Revez;
- Lotta, Luca A.;
- Overton, John D.;
- Reid, Jeffrey G.;
- Mirshahi, Tooraj;
- Regeneron Genetics Center;
- Geisinger Regeneron Discovehr Collaboration;
- Baras, Aris;
- Abecasis, Gonçalo;
- Shuldiner, Alan R.;
- Van Hout, Cristopher V.;
- McCarthy, Shane
Publication type:
Article
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.
Published in:
Bioinformatics, 2016, v. 32, n. 1, p. 133, doi. 10.1093/bioinformatics/btv547
By:
- Packer, Jonathan S.;
- Maxwell, Evan K.;
- O'Dushlaine, Colm;
- Lopez, Alexander E.;
- Dewey, Frederick E.;
- Chernomorsky, Rostislav;
- Baras, Aris;
- Overton, John D.;
- Habegger, Lukas;
- Reid, Jeffrey G.
Publication type:
Article
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Published in:
Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0566-x
By:
- Zhu, Na;
- Welch, Carrie L.;
- Wang, Jiayao;
- Allen, Philip M.;
- Gonzaga-Jauregui, Claudia;
- Ma, Lijiang;
- King, Alejandra K.;
- Krishnan, Usha;
- Rosenzweig, Erika B.;
- Ivy, D. Dunbar;
- Austin, Eric D.;
- Hamid, Rizwan;
- Pauciulo, Michael W.;
- Lutz, Katie A.;
- Nichols, William C.;
- Reid, Jeffrey G.;
- Overton, John D.;
- Baras, Aris;
- Dewey, Frederick E.;
- Shen, Yufeng
Publication type:
Article
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Published in:
2020
By:
- Gonzaga-Jauregui, Claudia;
- Wenzhen Ge;
- Staples, Jeffrey;
- Van Hout, Cristopher;
- Yadav, Ashish;
- Colonie, Ryan;
- Leader, Joseph B.;
- Kirchner, H. Lester;
- Murray, Michael F.;
- Reid, Jeffrey G.;
- Carey, David J.;
- Overton, John D.;
- Shuldiner, Alan R.;
- Gottesman, Omri;
- Gao, Steve;
- Gromada, Jesper;
- Baras, Aris;
- Altarejos, Judith;
- Ge, Wenzhen;
- Geisinger-Regeneron DiscovEHR collaboration
Publication type:
journal article
Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.
Published in:
2017
By:
- Huichun Xu;
- Ryan, Kathleen A.;
- Jaworek, Thomas J.;
- Southam, Lorraine;
- Reid, Jeffrey G.;
- Overton, John D.;
- Baras, Aris;
- Puurunen, Marja K.;
- Zeggini, Eleftheria;
- Taylor, Simeon I.;
- Shuldiner, Alan R.;
- Mitchell, Braxton D.;
- Xu, Huichun
Publication type:
journal article

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