Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F
Published in The lancet respiratory medicine (01.05.2015)
Published in The lancet respiratory medicine (01.05.2015)
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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Soden, Sarah E, Saunders, Carol J, Willig, Laurel K, Farrow, Emily G, Smith, Laurie D, Petrikin, Josh E, LePichon, Jean-Baptiste, Miller, Neil A, Thiffault, Isabelle, Dinwiddie, Darrell L, Twist, Greyson, Noll, Aaron, Heese, Bryce A, Zellmer, Lee, Atherton, Andrea M, Abdelmoity, Ahmed T, Safina, Nicole, Nyp, Sarah S, Zuccarelli, Britton, Larson, Ingrid A, Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A, Kingsmore, Stephen F
Published in Science translational medicine (03.12.2014)
Published in Science translational medicine (03.12.2014)
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More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Saunders, Carol J, Brunelli, Luca, Deem, Michael J, Farrow, Emily G, Hegde, Madhuri, Stark, Zornitza
Published in Clinical chemistry (Baltimore, Md.) (03.04.2024)
Published in Clinical chemistry (Baltimore, Md.) (03.04.2024)
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Initial FGF23-Mediated Signaling Occurs in the Distal Convoluted Tubule
FARROW, Emily G, DAVIS, Siobhan I, SUMMERS, Lelia J, WHITE, Kenneth E
Published in Journal of the American Society of Nephrology (01.05.2009)
Published in Journal of the American Society of Nephrology (01.05.2009)
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Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
Farrow, Emily G, Yu, Xijie, Summers, Lelia J, Davis, Siobhan I, Fleet, James C, Allen, Matthew R, Robling, Alexander G, Stayrook, Keith R, Jideonwo, Victoria, Magers, Martin J, Garringer, Holly J, Vidal, Ruben, Chan, Rebecca J, Goodwin, Charles B, Hui, Siu L, Peacock, Munro, White, Kenneth E
Published in Proceedings of the National Academy of Sciences - PNAS (15.11.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (15.11.2011)
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Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo
Rhee, Yumie, Bivi, Nicoletta, Farrow, Emily, Lezcano, Virginia, Plotkin, Lilian I, White, Kenneth E, Bellido, Teresita
Published in Bone (New York, N.Y.) (01.10.2011)
Published in Bone (New York, N.Y.) (01.10.2011)
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Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Groza, Cristian, Schwendinger-Schreck, Carl, Cheung, Warren A, Farrow, Emily G, Thiffault, Isabelle, Lake, Juniper, Rizzo, William B, Evrony, Gilad, Curran, Tom, Bourque, Guillaume, Pastinen, Tomi
Published in Nature communications (22.01.2024)
Published in Nature communications (22.01.2024)
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Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Huusko, Johanna M, Karjalainen, Minna K, Graham, Britney E, Zhang, Ge, Farrow, Emily G, Miller, Neil A, Jacobsson, Bo, Eidem, Haley R, Murray, Jeffrey C, Bedell, Bruce, Breheny, Patrick, Brown, Noah W, Bødker, Frans L, Litterman, Nadia K, Jiang, Pan-Pan, Russell, Laura, Hinds, David A, Hu, Youna, Rokas, Antonis, Teramo, Kari, Christensen, Kaare, Williams, Scott M, Rämet, Mika, Kingsmore, Stephen F, Ryckman, Kelli K, Hallman, Mikko, Muglia, Louis J
Published in PLoS genetics (12.07.2018)
Published in PLoS genetics (12.07.2018)
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Alström Syndrome: Mutation Spectrum of ALMS1
Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
Published in Human mutation (01.07.2015)
Published in Human mutation (01.07.2015)
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Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow
Clinkenbeard, Erica L, Hanudel, Mark R, Stayrook, Keith R, Appaiah, Hitesh Nidumanda, Farrow, Emily G, Cass, Taryn A, Summers, Lelia J, Ip, Colin S, Hum, Julia M, Thomas, Joseph C, Ivan, Mircea, Richine, Briana M, Chan, Rebecca J, Clemens, Thomas L, Schipani, Ernestina, Sabbagh, Yves, Xu, Linlin, Srour, Edward F, Alvarez, Marta B, Kacena, Melissa A, Salusky, Isidro B, Ganz, Tomas, Nemeth, Elizabeta, White, Kenneth E
Published in Haematologica (Roma) (01.11.2017)
Published in Haematologica (Roma) (01.11.2017)
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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Miller, Neil A, Farrow, Emily G, Gibson, Margaret, Willig, Laurel K, Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E, Saunders, Carol J, Thiffault, Isabelle, Soden, Sarah E, Smith, Laurie D, Dinwiddie, Darrell L, Herd, Suzanne, Cakici, Julie A, Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F
Published in Genome medicine (30.09.2015)
Published in Genome medicine (30.09.2015)
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Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice
Clinkenbeard, Erica L, Farrow, Emily G, Summers, Lelia J, Cass, Taryn A, Roberts, Jessica L, Bayt, Christine A, Lahm, Tim, Albrecht, Marjorie, Allen, Matthew R, Peacock, Munro, White, Kenneth E
Published in Journal of bone and mineral research (01.02.2014)
Published in Journal of bone and mineral research (01.02.2014)
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Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations
Cohen, Ana S.A., Berrios, Courtney D., Zion, Tricia N., Barrett, Cassandra M., Moore, Riley, Boillat, Emelia, Belden, Bradley, Farrow, Emily G., Thiffault, Isabelle, Zuccarelli, Britton D., Pastinen, Tomi
Published in American journal of human genetics (02.05.2024)
Published in American journal of human genetics (02.05.2024)
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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
Thiffault, Isabelle, Speca, David J, Austin, Daniel C, Cobb, Melanie M, Eum, Kenneth S, Safina, Nicole P, Grote, Lauren, Farrow, Emily G, Miller, Neil, Soden, Sarah, Kingsmore, Stephen F, Trimmer, James S, Saunders, Carol J, Sack, Jon T
Published in The Journal of general physiology (01.11.2015)
Published in The Journal of general physiology (01.11.2015)
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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D'Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G, Thiffault, Isabelle, Saunders, Carol J, Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio
Published in Frontiers in immunology (07.11.2016)
Published in Frontiers in immunology (07.11.2016)
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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Gaedigk, Andrea, Boone, Erin C, Scherer, Steven E, Lee, Seung-Been, Numanagić, Ibrahim, Sahinalp, Cenk, Smith, Joshua D, McGee, Sean, Radhakrishnan, Aparna, Qin, Xiang, Wang, Wendy Y, Farrow, Emily G, Gonzaludo, Nina, Halpern, Aaron L, Nickerson, Deborah A, Miller, Neil A, Pratt, Victoria M, Kalman, Lisa V
Published in The Journal of molecular diagnostics : JMD (01.04.2022)
Published in The Journal of molecular diagnostics : JMD (01.04.2022)
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GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant
Giddens, Michelle M., Wong, Jennifer C., Schroeder, Jason P., Farrow, Emily G., Smith, Brilee M., Owino, Sharon, Soden, Sarah E., Meyer, Rebecca C., Saunders, Carol, LePichon, J.B., Weinshenker, David, Escayg, Andrew, Hall, Randy A.
Published in Neurobiology of disease (01.10.2017)
Published in Neurobiology of disease (01.10.2017)
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Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
Lansdon, Lisa A, Cadieux-Dion, Maxime, Herriges, John C, Johnston, Jeffrey, Yoo, Byunggil, Alaimo, Joseph T, Thiffault, Isabelle, Miller, Neil, Cohen, Ana S A, Repnikova, Elena A, Zhang, Lei, Farooqi, Midhat S, Farrow, Emily G, Saunders, Carol J
Published in Clinical chemistry (Baltimore, Md.) (01.09.2022)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2022)
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Genetic heterogeneity and enrichment of variants in DNA‐repair genes in ameloblastoma
Awotoye, Waheed, Whitt, Joseph Craig, Yoo, Byunggil, Farooqi, Midhat S., Farrow, Emily G., Allareddy, Veerasathpurush, Amendt, Brad A., Rengasamy Venugopalan, Shankar
Published in Journal of oral pathology & medicine (01.03.2023)
Published in Journal of oral pathology & medicine (01.03.2023)
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