Our research lab is broadly interested in leveraging genomic tools to understanding how both rare and common human genetic variation cause human disease. As the sequencing technology as matured, one of the major challenge in genomics is interpretation of the majority of the DNA base pairs that are sequenced within an individual. Interpreting how the DNA code influences human disease and is an important next step in integration of research findings into the clinical setting. The lab leverages a bidirectional approach. First, we are interested in rare genetic syndromes caused by genetic changes in genes that function to organize DNA through chromatin modification. The lab leverages functional genomic approaches (RNA-seq, ChIP-seq, methylation-seq) to 1) understand how rare deleterious mutations in chromatin modifiers affect downstream pathways and human development in a cellular model system, 2) identify modifiers of disease severity and 3) prioritize putative drug targets. Second, we are also interested in the shared genetic basis of monogenic and complex diseases. We are using existing large scale GWAS data sets to better identify and interpret findings by leveraging the extremes of the phenotypic spectrum (monogenic/Mendelian disease).
Yoon Wan Hee, Sandoval Hector, Nagarkar-Jaiswal Sonal, Jaiswal Manish, Yamamoto Shinya, Haelterman Nele A, Putluri Nagireddy, Putluri Vasanta, Sreekumar Arun, Tos Tulay, Aksoy Ayse, Donti Taraka, Graham Brett H, Ohno Mikiko, Nishi Eiichiro, Hunter Jill, Muzny Donna M, Carmichael Jason, Shen Joseph, Arboleda Valerie A, Nelson Stanley F, Wangler Michael F, Karaca Ender, Lupski James R, Bellen Hugo J Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration Neuron, 2017; 93(1): 115-131.
Bramble Matthew S, Roach Lara, Lipson Allen, Vashist Neerja, Eskin Ascia, Ngun Tuck, Gosschalk Jason E, Klein Steven, Barseghyan Hayk, Arboleda Valerie A, Vilain Eric Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells Scientific reports, 2016; 6(1): 36916.
Bramble Matthew S, Goldstein Ellen H, Lipson Allen, Ngun Tuck, Eskin Ascia, Gosschalk Jason E, Roach Lara, Vashist Neerja, Barseghyan Hayk, Lee Eric, Arboleda Valerie A, Vaiman Daniel, Yuksel Zafer, Fellous Marc, Vilain Eric A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing Human reproduction (Oxford, England), 2016; 31(4): 905-14.
Arboleda Valerie A, Lee Stephen Lymphoma and gout coexisting in the same joint fluid Blood, 2015; 125(20): 3213.
Contreras Jorge R, Palanichamy Jayanth Kumar, Tran Tiffany M, Fernando Thilini R, Rodriguez-Malave Norma I, Goswami Neha, Arboleda Valerie A, Casero David, Rao Dinesh S MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1 Oncotarget, 2015; 6(13): 11023-37.
Borges Kleiton S, Arboleda Valerie A, Vilain Eric Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase Cell division, 2015; 10(13): 2.
Arboleda Valerie A, Lee Hane, Dorrani Naghmeh, Zadeh Neda, Willis Mary, Macmurdo Colleen Forsyth, Manning Melanie A, Kwan Andrea, Hudgins Louanne, Barthelemy Florian, Miceli M Carrie, Quintero-Rivera Fabiola, Kantarci Sibel, Strom Samuel P, Deignan Joshua L, Deignan Joshua L, Grody Wayne W, Vilain Eric, Nelson Stanley F De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay American journal of human genetics, 2015; 96(3): 498-506.
Baxter Ruth M, Arboleda Valerie A, Lee Hane, Barseghyan Hayk, Adam Margaret P, Fechner Patricia Y, Bargman Renee, Keegan Catherine, Travers Sharon, Schelley Susan, Hudgins Louanne, Mathew Revi P, Stalker Heather J, Zori Roberto, Gordon Ora K, Ramos-Platt Leigh, Pawlikowska-Haddal Anna, Eskin Ascia, Nelson Stanley F, Délot Emmanuèle, Vilain Eric Exome sequencing for the diagnosis of 46,XY disorders of sex development The Journal of clinical endocrinology and metabolism, 2015; 100(2): E333-44.
Arboleda Valerie A, Sandberg David E, Vilain Eric DSDs: genetics, underlying pathologies and psychosexual differentiation Nature reviews. Endocrinology, 2014; 10(10): 603-15.
Arboleda Valerie A, Fleming Alice, Barseghyan Hayk, Délot Emmanuèle, Sinsheimer Janet S, Vilain Eric Regulation of sex determination in mice by a non-coding genomic region Genetics, 2014; 197(3): 885-97.
Caburet Sandrine, Arboleda Valerie A, Llano Elena, Overbeek Paul A, Barbero Jose Luis, Oka Kazuhiro, Harrison Wilbur, Vaiman Daniel, Ben-Neriah Ziva, García-Tuñón Ignacio, Fellous Marc, Pendás Alberto M, Veitia Reiner A, Vilain Eric Mutant cohesin in premature ovarian failure The New England journal of medicine, 2014; 370(10): 943-949.
Arboleda V A, Lee H, Sánchez F J, Délot E C, Sandberg D E, Grody W W, Nelson S F, Vilain E Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development Clinical genetics, 2013; 83(1): 35-43.
Arboleda Valerie A, Lee Hane, Parnaik Rahul, Fleming Alice, Banerjee Abhik, Ferraz-de-Souza Bruno, Délot Emmanuèle C, Rodriguez-Fernandez Imilce A, Braslavsky Debora, Bergadá Ignacio, Dell'Angelica Esteban C, Nelson Stanley F, Martinez-Agosto Julian A, Achermann John C, Vilain Eric Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome Nature genetics, 2012; 44(7): 788-92.
Prunell Giselle F, Arboleda Valerie A, Troy Carol M Caspase function in neuronal death: delineation of the role of caspases in ischemia Current drug targets. CNS and neurological disorders, 2005; 4(1): 51-61.
Does this profile need updating? Contact Us