Emily Farrow

Emily Farrow

UNVERIFIED PROFILE

Are you Emily Farrow?   Register this Author

Register author
Emily Farrow

Emily Farrow

Publications by authors named "Emily Farrow"

Are you Emily Farrow?   Register this Author

53Publications

-Reads

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

PLoS Genet 2018 Jul 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.

View Article
July 2018

Clinical genome sequencing in an unbiased pediatric cohort.

Genet Med 2018 Jul 16. Epub 2018 Jul 16.

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

View Article
July 2018

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

BMC Med Genet 2017 11 2;18(1):124. Epub 2017 Nov 2.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.

View Article
November 2017

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.

View Article
April 2017

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Am J Med Genet A 2016 12 9;170(12):3343-3346. Epub 2016 Sep 9.

Spectrum Health Hospitals, Grand Rapids, Michigan.

View Article
December 2016

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Am J Med Genet A 2016 06 26;170(6):1585-9. Epub 2016 Mar 26.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.

View Article
June 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

View Article
November 2015

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Indian J Pediatr 2015 May 29;82(5):474-7. Epub 2014 Oct 29.

Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

View Article
May 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:

View Article
May 2015

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

Am J Med Genet A 2015 Apr 23;167A(4):683-7. Epub 2015 Feb 23.

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

View Article
April 2015

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Am J Hum Genet 2015 Feb 15;96(2):258-65. Epub 2015 Jan 15.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark. Electronic address:

View Article
February 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.

View Article
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.

View Article
May 2014

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

Am J Med Genet A 2014 Feb 5;164A(2):287-90. Epub 2013 Dec 5.

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

View Article
February 2014

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

Genomics 2013 Sep 28;102(3):148-56. Epub 2013 Apr 28.

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

View Article
September 2013

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

BMC Med Genomics 2013 Sep 17;6:32. Epub 2013 Sep 17.

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

View Article
September 2013

Genomic medicine: evolving science, evolving ethics.

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

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

View Article
January 2012

Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo.

Bone 2011 Oct 25;49(4):636-43. Epub 2011 Jun 25.

Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, IN 46022, USA.

View Article
October 2011

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.

View Article
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.

View Article
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.

View Article
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.

View Article
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.

View Article
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.

View Article
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.

View Article
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.

View Article
October 2008

A case of de novo partial tetrasomy of distal 6p and review of the literature.

Am J Med Genet A 2007 Sep;143A(17):1978-83

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.

View Article
September 2007