Tumor-induced osteomalacia

le Farrow, Emily G, White, Kenneth E
Foilsithe 2009

Recent Advances in Renal Phosphate Handling

le Farrow, Emily G., White, Kenneth E.
Foilsithe 2010

Hyperphosphatemic Familial Tumoral Calcinosis (FGF23, GALNT3, αKlotho)

le Farrow, Emily G., Imel, Erik A., White, Kenneth E.
Foilsithe 2011

Initial FGF23-Mediated Signaling Occurs in the Distal Convoluted Tubule

le Farrow, Emily G., Davis, Siobhan I., Summers, Lelia J., White, Kenneth E.
Foilsithe 2009

Genomic medicine: evolving science, evolving ethics

le Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D
Foilsithe 2012

Altered Renal FGF23-Mediated Activity Involving MAPK and Wnt: Effects of the Hyp Mutation

le Farrow, Emily G., Summers, Lelia J., Schiavi, Susan C., McCormick, James A., Ellison, David H., White, Kenneth E.
Foilsithe 2010

Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen’s Metaphyseal Chondrodysplasia

le Brown, Whitney W., Jüppner, Harald, Langman, Craig B., Price, Heather, Farrow, Emily G., White, Kenneth E., McCormick, Kenneth L.
Foilsithe 2009

Next-generation community genetics for low- and middle-income countries

le Kingsmore, Stephen F, Lantos, John D, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Farrow, Emily G, Saunders, Carol J
Foilsithe 2012

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

le Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F
Foilsithe 2013

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

le Dumitrescu, Claudia E., Kelly, Marilyn H., Khosravi, Azarmindokht, Hart, Thomas C., Brahim, Jaime, White, Kenneth E., Farrow, Emily G., Nathan, Muriel H., Murphey, Mark D., Collins, Michael T.
Foilsithe 2008

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

le Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.
Foilsithe in Genomics (2013)

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

le Garringer, Holly J., Malekpour, Mahdi, Esteghamat, Fatemehsadat, Mortazavi, Seyed M. J., Davis, Siobhan I., Farrow, Emily G., Yu, Xijie, Arking, Dan E., Dietz, Harry C., White, Kenneth E.
Foilsithe 2008

Molecular Analysis of DMP1 Mutants Causing Autosomal Recessive Hypophosphatemic Rickets

le Farrow, Emily G., Davis, Siobhan I., Ward, Leanne M., Summers, Lelia J., Bubbear, Judith S., Keen, Richard, Stamp, Trevor C.B., Baker, Laurence R. I., Bonewald, Lynda F., White, Kenneth E.
Foilsithe 2008

Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice

le 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
Foilsithe in J Bone Miner Res (2014)

Alström Syndrome: Mutation spectrum of ALMS1

le 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.
Foilsithe in Hum Mutat (2015)

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

le 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
Foilsithe in Front Immunol (2016)

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

le 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.
Foilsithe in J Gen Physiol (2015)

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse

le Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Foilsithe in Hum Mutat (2015)

GPR37L1 Modulates Seizure Susceptibility: Evidence from Mouse Studies and Analyses of a Human GPR37L1 Variant

le 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.
Foilsithe in Neurobiol Dis (2017)

Clinical detection of deletion structural variants in whole-genome sequences

le Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Foilsithe in NPJ Genom Med (2016)