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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression., Kram, A., Li L., Zhang R. D., Yoon D. S., Ro J. Y., Johnston D., Grossman H. B., Scherer S., and Czerniak B. , Laboratory investigation; a journal of technical methods and pathology, 2001 Jul, Volume 81, Issue 7, p.1039-48, (2001) Abstract
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators, Bellott, Daniel W., Hughes Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Graves Tina, Rock Susie, et al. , Nature, 4/2014, Volume 508, Issue 7497, p.494 - 499, (2014)
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes., Skaletsky, Helen, Kuroda-Kawaguchi Tomoko, Minx Patrick J., Cordum Holland S., Hillier Ladeana, Brown Laura G., Repping Sjoerd, Pyntikova Tatyana, Ali Johar, Bieri Tamberlyn, et al. , Nature, 2003 Jun 19, Volume 423, Issue 6942, p.825-37, (2003) Abstract
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions., Anstead, Clare A., Korhonen Pasi K., Young Neil D., Hall Ross S., Jex Aaron R., Murali Shwetha C., Hughes Daniel S. T., Lee Siu F., Perry Trent, Stroehlein Andreas J., et al. , Nature communications, 2015, Volume 6, p.7344, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Lindsay, Mark E., Schepers Dorien, Bolar Nikhita Ajit, Doyle Jefferson J., Gallo Elena, Fert-Bober Justyna, Kempers Marlies J. E., Fishman Elliot K., Chen Yichun, Myers Loretha, et al. , Nature genetics, 2012 Aug, Volume 44, Issue 8, p.922-7, (2012) Abstract
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction., Bainbridge, Matthew N., Davis Erica E., Choi Wen-Yee, Dickson Amy, Martinez Hugo R., Wang Min, Dinh Huyen, Muzny Donna, Pignatelli Ricardo, Katsanis Nicholas, et al. , Circulation. Cardiovascular genetics, 2015 May 29, (2015) Abstract
Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines., Hampton, Oliver A., Koriabine Maxim, Miller Christopher A., Coarfa Cristian, Li Jian, Den Hollander Petra, Schoenherr Caroline, Carbone Lucia, Nefedov Mikhail, Ten Hallers Boudewijn F. H., et al. , Cancer genetics, 2011 Aug, Volume 204, Issue 8, p.447-57, (2011) Abstract
Long HIV-1 incubation periods and dynamics of transmission within a family., Burger, H., Belman A. L., Grimson R., Kaell A., Flaherty K., Gulla J., Gibbs R. A., Nguyun P. N., and Weiser B. , Lancet, 1990 Jul 21, Volume 336, Issue 8708, p.134-6, (1990) Abstract
Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer., Scott, G. B. I., Steffen D. L., Edgar D., Warren J. T., Kovár C. L., Scherer S. E., Havlak P. H., and Gibbs R. A. , BioTechniques, 2002 Jun, Volume 32, Issue 6, p.1366, 1368, 1370-1, (2002) Abstract
Linkage mapping in Papio baboons: conservation of a syntenic group of six markers on human chromosome 1., Rogers, J., Witte S. M., Kammerer C. M., Hixson J. E., and MacCluer J. W. , Genomics, 1995 Jul 20, Volume 28, Issue 2, p.251-4, (1995) Abstract
Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: The Family Blood Pressure Program., Simino, Jeannette, Kume Rezart, Kraja Aldi T., Turner Stephen T., Hanis Craig L., Sheu Wayne H. - H., Chen Yii-Der Ida, Jaquish Cashell E., Cooper Richard S., Chakravarti Aravinda, et al. , Atherosclerosis, 2014 Apr 26, Volume 235, Issue 1, p.84-93, (2014) Abstract
Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans., Yohn, Chris T., Jiang Zhaoshi, McGrath Sean D., Hayden Karen E., Khaitovich Philipp, Johnson Matthew E., Eichler Marla Y., McPherson John D., Zhao Shaying, Pääbo Svante, et al. , PLoS biology, 2005 Apr, Volume 3, Issue 4, p.e110, (2005) Abstract
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency., Chang, Yuh Terng, Sharma Radhakant, Marsh Lawrence J., McPherson John D., Bedell Joey A., Knust Andreas, Bräutigam Christa, Hoffmann Georg F., and Hyland Keith , Annals of neurology, 2004 Mar, Volume 55, Issue 3, p.435-8, (2004) Abstract
Large-scale RT-PCR recovery of full-length cDNA clones., Wu, Jiaqian, Garcia Angela M., Hulyk Steven, Sneed Anna, Kowis Carla, Yuan Ye, Steffen David, McPherson John D., Gunaratne Preethi H., and Gibbs Richard A. , BioTechniques, 2004 Apr, Volume 36, Issue 4, p.690-6, 698-700, (2004) Abstract
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels., Barbalic, Maja, Dupuis Josée, Dehghan Abbas, Bis Joshua C., Hoogeveen Ron C., Schnabel Renate B., Nambi Vijay, Bretler Monique, Smith Nicholas L., Peters Annette, et al. , Human molecular genetics, 2010 May 1, Volume 19, Issue 9, p.1863-72, (2010) Abstract
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair., Day, Felix R., Ruth Katherine S., Thompson Deborah J., Lunetta Kathryn L., Pervjakova Natalia, Chasman Daniel I., Stolk Lisette, Finucane Hilary K., Sulem Patrick, Bulik-Sullivan Brendan, et al. , Nature genetics, 2015 Nov, Volume 47, Issue 11, p.1294-303, (2015) Abstract
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10., Matsuura, T., Yamagata T., Burgess D. L., Rasmussen A., Grewal R. P., Watase K., Khajavi M., McCall A. E., Davis Caleb F., Zu L., et al. , Nature genetics, 2000 Oct, Volume 26, Issue 2, p.191-4, (2000) Abstract
Large conserved domains of low DNA methylation maintained by Dnmt3a., Jeong, Mira, Sun Deqiang, Luo Min, Huang Yun, Challen Grant A., Rodriguez Benjamin, Zhang Xiaotian, Chavez Lukas, Wang Hui, Hannah Rebecca, et al. , Nature genetics, 2014 Jan, Volume 46, Issue 1, p.17-23, (2014) Abstract
Landscape of somatic retrotransposition in human cancers., Lee, Eunjung, Iskow Rebecca, Yang Lixing, Gokcumen Omer, Haseley Psalm, Luquette Lovelace J., Lohr Jens G., Harris Christopher C., Ding Li, Wilson Richard K., et al. , Science (New York, N.Y.), 2012 Aug 24, Volume 337, Issue 6097, p.967-71, (2012) Abstract
Lack of genetic linkage evidence for a trans-acting factor having a large effect on plasma lipoprotein[a] levels in African Americans., Barkley, Ruth Ann, Brown Andrew C., Hanis Craig L., Kardia Sharon L., Turner Stephen T., and Boerwinkle Eric , Journal of lipid research, 2003 Jul, Volume 44, Issue 7, p.1301-5, (2003) Abstract
Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies., Nettleton, Jennifer A., McKeown Nicola M., Kanoni Stavroula, Lemaitre Rozenn N., Hivert Marie-France, Ngwa Julius, van Rooij Frank J. A., Sonestedt Emily, Wojczynski Mary K., Ye Zheng, et al. , Diabetes care, 2010 Dec, Volume 33, Issue 12, p.2684-91, (2010) Abstract

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