Tumor-induced osteomalacia

door Farrow, Emily G, White, Kenneth E
Gepubliceerd in 2009

Recent Advances in Renal Phosphate Handling

door Farrow, Emily G., White, Kenneth E.
Gepubliceerd in 2010

Hyperphosphatemic Familial Tumoral Calcinosis (FGF23, GALNT3, αKlotho)

door Farrow, Emily G., Imel, Erik A., White, Kenneth E.
Gepubliceerd in 2011

Initial FGF23-Mediated Signaling Occurs in the Distal Convoluted Tubule

door Farrow, Emily G., Davis, Siobhan I., Summers, Lelia J., White, Kenneth E.
Gepubliceerd in 2009

Genomic medicine: evolving science, evolving ethics

door Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D
Gepubliceerd in 2012

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

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

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

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

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

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

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

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

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

door 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.
Gepubliceerd in 2008

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

door 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.
Gepubliceerd in Genomics (2013)

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

door 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.
Gepubliceerd in 2008

Molecular Analysis of DMP1 Mutants Causing Autosomal Recessive Hypophosphatemic Rickets

door 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.
Gepubliceerd in 2008

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

door 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
Gepubliceerd in J Bone Miner Res (2014)

Alström Syndrome: Mutation spectrum of ALMS1

door 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.
Gepubliceerd in Hum Mutat (2015)

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

door 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
Gepubliceerd in Front Immunol (2016)

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

door 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.
Gepubliceerd 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

door 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.
Gepubliceerd in Hum Mutat (2015)

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

door 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.
Gepubliceerd in Neurobiol Dis (2017)

Clinical detection of deletion structural variants in whole-genome sequences

door 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
Gepubliceerd in NPJ Genom Med (2016)