Mutant Cohesin in Premature Ovarian Failure
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
Published in The New England journal of medicine (06.03.2014)
Published in The New England journal of medicine (06.03.2014)
Get full text
Journal Article
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
Freund, Malika Kumar, Burch, Kathryn S., Shi, Huwenbo, Mancuso, Nicholas, Kichaev, Gleb, Garske, Kristina M., Pan, David Z., Miao, Zong, Mohlke, Karen L., Laakso, Markku, Pajukanta, Päivi, Pasaniuc, Bogdan, Arboleda, Valerie A.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
Get full text
Journal Article
Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
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
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Get full text
Journal Article
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
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., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
Get full text
Journal Article
Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers
Lin, Isabella, Wei, Angela, Gebo, Tsumugi A, Boutros, Paul C, Flanagan, Maeve, Kucine, Nicole, Cunniff, Christopher, Arboleda, Valerie A, Chang, Vivian Y
Published in Haematologica (Roma) (25.07.2024)
Published in Haematologica (Roma) (25.07.2024)
Get full text
Journal Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
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
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
Get full text
Journal Article
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing
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
Published in Human reproduction (Oxford) (01.04.2016)
Published in Human reproduction (Oxford) (01.04.2016)
Get full text
Journal Article
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
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.
Published in Neuron (Cambridge, Mass.) (04.01.2017)
Published in Neuron (Cambridge, Mass.) (04.01.2017)
Get full text
Journal Article
Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region
Caggiano, Christa, Boudaie, Arya, Shemirani, Ruhollah, Mefford, Joel, Petter, Ella, Chiu, Alec, Ercelen, Defne, He, Rosemary, Tward, Daniel, Paul, Kimberly C., Chang, Timothy S., Pasaniuc, Bogdan, Kenny, Eimear E., Shortt, Jonathan A., Gignoux, Christopher R., Balliu, Brunilda, Arboleda, Valerie A., Belbin, Gillian, Zaitlen, Noah
Published in Nature medicine (01.07.2023)
Published in Nature medicine (01.07.2023)
Get full text
Journal Article
Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative
Johnson, Ruth, Ding, Yi, Venkateswaran, Vidhya, Bhattacharya, Arjun, Boulier, Kristin, Chiu, Alec, Knyazev, Sergey, Schwarz, Tommer, Freund, Malika, Zhan, Lingyu, Burch, Kathryn S, Caggiano, Christa, Hill, Brian, Rakocz, Nadav, Balliu, Brunilda, Denny, Christopher T, Sul, Jae Hoon, Zaitlen, Noah, Arboleda, Valerie A, Halperin, Eran, Sankararaman, Sriram, Butte, Manish J, Lajonchere, Clara, Geschwind, Daniel H, Pasaniuc, Bogdan
Published in Genome medicine (09.09.2022)
Published in Genome medicine (09.09.2022)
Get full text
Journal Article
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
Get full text
Journal Article
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Awamleh, Zain, Chater-Diehl, Eric, Choufani, Sanaa, Wei, Elizabeth, Kianmahd, Rebecca R, Yu, Anna, Chad, Lauren, Costain, Gregory, Tan, Wen-Hann, Scherer, Stephen W, Arboleda, Valerie A, Russell, Bianca E, Weksberg, Rosanna
Published in European journal of human genetics : EJHG (01.06.2022)
Published in European journal of human genetics : EJHG (01.06.2022)
Get full text
Journal Article
Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease
Johnson, Ruth, Stephens, Alexis V, Mester, Rachel, Knyazev, Sergey, Kohn, Lisa A, Freund, Malika K, Bondhus, Leroy, Hill, Brian L, Schwarz, Tommer, Zaitlen, Noah, Arboleda, Valerie A, A Bastarache, Lisa, Pasaniuc, Bogdan, Butte, Manish J
Published in Science translational medicine (01.05.2024)
Published in Science translational medicine (01.05.2024)
Get more information
Journal Article
Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting
Arboleda, Valerie A, Garner, Omai B
Published in American journal of clinical pathology (01.10.2017)
Published in American journal of clinical pathology (01.10.2017)
Get full text
Journal Article
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Sutton, Edwina, Hughes, James, White, Stefan, Sekido, Ryohei, Tan, Jacqueline, Arboleda, Valerie, Rogers, Nicholas, Knower, Kevin, Rowley, Lynn, Eyre, Helen, Rizzoti, Karine, McAninch, Dale, Goncalves, Joao, Slee, Jennie, Turbitt, Erin, Bruno, Damien, Bengtsson, Henrik, Harley, Vincent, Vilain, Eric, Sinclair, Andrew, Lovell-Badge, Robin, Thomas, Paul
Published in The Journal of clinical investigation (01.01.2011)
Published in The Journal of clinical investigation (01.01.2011)
Get full text
Journal Article