Emily G Farrow

Emily G Farrow

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Emily G Farrow

Emily G Farrow

Publications by authors named "Emily G Farrow"

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35Publications

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Using dried blood spots for variant analysis for patients with haemophilia.

Haemophilia 2019 Sep 30;25(5):e339-e341. Epub 2019 Jul 30.

Division of Hematology/Oncology, Children's Mercy Hospital, Kansas City, Missouri, USA.

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http://dx.doi.org/10.1111/hae.13824DOI Listing
September 2019

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

PLoS Genet 2018 07 12;14(7):e1007394. Epub 2018 Jul 12.

Division of Human Genetics, Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati, Ohio, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042692PMC
July 2018

In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.

Pharmacogenomics 2017 Apr 14;18(5):427-431. Epub 2017 Mar 14.

Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.2217/pgs-2016-0192DOI Listing
April 2017

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

J Allergy Clin Immunol 2016 05 26;137(5):1591-1595.e4. Epub 2015 Nov 26.

Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.09.050DOI Listing
May 2016

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

J Gen Physiol 2015 Nov;146(5):399-410

Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616

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http://dx.doi.org/10.1085/jgp.201511444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747PMC
November 2015

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(15)00139-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479194PMC
May 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

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

Genome Med 2012 29;4(3):25. Epub 2012 Mar 29.

Center for Pediatric Genomic Medicine, Children's Mercy Hospitals and Clinics, 2401 Gilham Road, Kansas City, MO 64108, USA.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm3
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http://dx.doi.org/10.1186/gm324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446275PMC
May 2014

Genomic medicine: evolving science, evolving ethics.

Per Med 2012 ;9(5):523-528

University of Missouri, Children's Mercy Hospital, Kansas City, MO, USA.

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https://www.futuremedicine.com/doi/10.2217/pme.12.56
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http://dx.doi.org/10.2217/pme.12.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500993PMC
January 2012

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Best Pract Res Clin Rheumatol 2011 Oct;25(5):735-47

Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15216942110009
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http://dx.doi.org/10.1016/j.berh.2011.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233725PMC
October 2011

Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation.

J Endocrinol 2010 Oct 30;207(1):67-75. Epub 2010 Jul 30.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

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http://dx.doi.org/10.1677/JOE-10-0181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050595PMC
October 2010

Recent advances in renal phosphate handling.

Nat Rev Nephrol 2010 Apr 23;6(4):207-17. Epub 2010 Feb 23.

Department of Medical & Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1038/nrneph.2010.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050486PMC
April 2010

Tumor-induced osteomalacia.

Expert Rev Endocrinol Metab 2009 Sep;4(5):435-442

Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://www.tandfonline.com/doi/full/10.1586/eem.09.27
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http://dx.doi.org/10.1586/eem.09.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835164PMC
September 2009

Initial FGF23-mediated signaling occurs in the distal convoluted tubule.

J Am Soc Nephrol 2009 May 8;20(5):955-60. Epub 2009 Apr 8.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1681/ASN.2008070783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060419PMC
May 2009

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.

Bone 2009 Feb 25;44(2):287-94. Epub 2008 Oct 25.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut St., IB130, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1016/j.bone.2008.10.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669955PMC
February 2009

Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.

J Clin Endocrinol Metab 2009 Jan 14;94(1):17-20. Epub 2008 Oct 14.

University of Alabama School of Medicine, Department of Pediatric Endocrinology, Children's Park Place Suite 230, 1600 7th Avenue South, Birmingham, Alabama 35233, USA.

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http://dx.doi.org/10.1210/jcem.94.2.9988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630869PMC
January 2009

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

Am J Physiol Endocrinol Metab 2008 Oct 5;295(4):E929-37. Epub 2008 Aug 5.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

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http://dx.doi.org/10.1152/ajpendo.90456.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2575904PMC
October 2008