Found 713 results
2014 Victor A. McKusick Leadership Award., Valle, David , Am J Hum Genet, 2015 Mar 5, Volume 96, Issue 3, p.374-6, (2015)
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias., Sobreira, Nara, Modaff Peggy, Steel Gary, You Jing, Nanda Sonia, Hoover-Fong Julie, Valle David, and Pauli Richard M. , Am J Med Genet A, 2015 Jan, Volume 167A, Issue 1, p.159-63, (2015)
Analysis of adult cerebral cortex and hippocampus transcriptomes reveals unique molecular changes in the Ts1Cje mouse model of down syndrome., Guedj, Faycal, Pennings Jeroen L. A., Wick Heather C., and Bianchi Diana W. , Brain Pathol, 2015 Jan, Volume 25, Issue 1, p.11-23, (2015)
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics., Jurgens, Julie, Ling Hua, Hetrick Kurt, Pugh Elizabeth, Schiettecatte François, Doheny Kimberly, Hamosh Ada, Avramopoulos Dimitri, Valle David, and Sobreira Nara , Genet Med, 2015 Oct, Volume 17, Issue 10, p.782-8, (2015)
Association of mitochondrial DNA levels with frailty and all-cause mortality., Ashar, Foram N., Moes Anna, Moore Ann Z., Grove Megan L., Chaves Paulo H. M., Coresh Josef, Newman Anne B., Matteini Amy M., Bandeen-Roche Karen, Boerwinkle Eric, et al. , J Mol Med (Berl), 2015 Feb, Volume 93, Issue 2, p.177-86, (2015)
Availability of hospital dental care services under sedation or general anesthesia for individuals with special needs in the Unified Health System for the State of Minas Gerais (SUS-MG), Brazil., Santos, Jacqueline Silva, Valle Déborah Andrade, Palmier Andréa Clemente, Amaral João Henrique L., and de Abreu Mauro Henrique N. , Cien Saude Colet, 2015 Feb, Volume 20, Issue 2, p.515-24, (2015)
Beat-to-beat spatiotemporal variability in the T vector is associated with sudden cardiac death in participants without left ventricular hypertrophy: the Atherosclerosis Risk in Communities (ARIC) Study., Waks, Jonathan W., Soliman Elsayed Z., Henrikson Charles A., Sotoodehnia Nona, Han Lichy, Agarwal Sunil K., Arking Dan E., Siscovick David S., Solomon Scott D., Post Wendy S., et al. , J Am Heart Assoc, 2015 Jan, Volume 4, Issue 1, p.e001357, (2015)
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy., Kano, S, Yuan M, Cardarelli R A., Maegawa G, Higurashi N, Gaval-Cruz M, Wilson A M., Tristan C, Kondo M A., Chen Y, et al. , Curr Mol Med, 2015, Volume 15, Issue 2, p.138-45, (2015)
A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts., Springer, Simeon, Wang Yuxuan, Dal Molin Marco, Masica David L., Jiao Yuchen, Kinde Isaac, Blackford Amanda, Raman Siva P., Wolfgang Christopher L., Tomita Tyler, et al. , Gastroenterology, 2015 Aug 4, (2015)
Common genetic variation and schizophrenia polygenic risk influence neurocognitive performance in young adulthood., Hatzimanolis, Alex, Bhatnagar Pallav, Moes Anna, Wang Ruihua, Roussos Panos, Bitsios Panos, Stefanis Costas N., Pulver Ann E., Arking Dan E., Smyrnis Nikolaos, et al. , Am J Med Genet B Neuropsychiatr Genet, 2015 May 12, (2015)
CSAX: Characterizing Systematic Anomalies in eXpression Data., Noto, Keith, Majidi Saeed, Edlow Andrea G., Wick Heather C., Bianchi Diana W., and Slonim Donna K. , J Comput Biol, 2015 May, Volume 22, Issue 5, p.402-13, (2015)
Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas., Wang, Yuxuan, Springer Simeon, Mulvey Carolyn L., Silliman Natalie, Schaefer Joy, Sausen Mark, James Nathan, Rettig Eleni M., Guo Theresa, Pickering Curtis R., et al. , Sci Transl Med, 2015 Jun 24, Volume 7, Issue 293, p.293ra104, (2015)
Detection of tumor-derived DNA in cerebrospinal fluid of patients with primary tumors of the brain and spinal cord., Wang, Yuxuan, Springer Simeon, Zhang Ming, K McMahon Wyatt, Kinde Isaac, Dobbyn Lisa, Ptak Janine, Brem Henry, Chaichana Kaisorn, Gallia Gary L., et al. , Proc Natl Acad Sci U S A, 2015 Aug 4, Volume 112, Issue 31, p.9704-9, (2015)
Developmental and endocrine regulation of kisspeptin expression in mouse Leydig cells., Salehi, Sajad, Adeshina Ikeoluwa, Chen Haolin, Zirkin Barry R., Hussain Mehboob A., Wondisford Fredric, Wolfe Andrew, and Radovick Sally , Endocrinology, 2015 Apr, Volume 156, Issue 4, p.1514-22, (2015)
Effects of a 12-month moderate weight loss intervention on insulin sensitivity and inflammation status in nondiabetic overweight and obese subjects., Ho, T P., Zhao X, Courville A B., Linderman J D., Smith S, Sebring N, Valle D M. Della, Fitzpatrick B, Simchowitz L, and Celi F S. , Horm Metab Res, 2015 Apr, Volume 47, Issue 4, p.289-96, (2015)
Efficient and allele-specific genome editing of disease loci in human iPSCs., Smith, Cory, Abalde-Atristain Leire, He Chaoxia, Brodsky Brett R., Braunstein Evan M., Chaudhari Pooja, Jang Yoon-Young, Cheng Linzhao, and Ye Zhaohui , Mol Ther, 2015 Mar, Volume 23, Issue 3, p.570-7, (2015)
The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome., Guedj, Faycal, Pennings Jeroen L. A., Ferres Millie A., Graham Leah C., Wick Heather C., Miczek Klaus A., Slonim Donna K., and Bianchi Diana W. , Am J Med Genet A, 2015 Sep, Volume 167, Issue 9, p.1993-2008, (2015)
Freedom and Responsibility in Synthetic Genomics: The Synthetic Yeast Project., Sliva, Anna, Yang Huanming, Boeke Jef D., and Mathews Debra J. H. , Genetics, 2015 Aug, Volume 200, Issue 4, p.1021-8, (2015)
Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants., Ghosh, Soma, Bhunia Anil K., Paun Bogdan C., Gilbert Samuel F., Dhru Urmil, Patel Kalpesh, and Kern Scott E. , Hum Mutat, 2015 Feb, Volume 36, Issue 2, p.260-9, (2015)
Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS., Mattheisen, M, Samuels J F., Wang Y, Greenberg B D., Fyer A J., McCracken J T., Geller D A., Murphy D L., Knowles J A., Grados M A., et al. , Mol Psychiatry, 2015 Mar, Volume 20, Issue 3, p.337-44, (2015)
Improving the Visible Light Photoactivity of Supported Fullerene Photocatalysts through the Use of [C70] Fullerene., Moor, Kyle J., Valle Dhyan C., Li Chuanhao, and Kim Jae-Hong , Environ Sci Technol, 2015 May 7, (2015)
Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation., Avramopoulos, D, Pearce Brad D., McGrath John, Wolyniec Paula, Wang Ruihua, Eckart Nicole, Hatzimanolis Alexandros, Goes Fernando S., Nestadt Gerald, Mulle Jennifer, et al. , PLoS One, 2015, Volume 10, Issue 3, p.e0116696, (2015)
Integrated analysis of CRLF2 signaling in acute lymphoblastic leukemia identifies Polo-like kinase 1 as a potential therapeutic target., Huang, Tai-Chung, Cutler Jevon, Bharne Shubhada, Zhong Jun, Weinstock David, Tyner Jeffrey, Gojo Ivana, Civin Curt, and Pandey Akhilesh , Leuk Lymphoma, 2015 May, Volume 56, Issue 5, p.1524-7, (2015)
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation., Ben-Salem, Salma, Nara Sobreira, Al-Shamsi Aisha M., Valle David, Ali Bassam R., and Al-Gazali Lihadh , J Dermatol, 2015 May 11, (2015)