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

58Publications

1272Reads

24Profile Views

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.

View Article

Download full-text PDF

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

Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

Orthod Craniofac Res 2019 May;22 Suppl 1:49-55

University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ocr.12266DOI Listing
May 2019

Using apps to encourage engagement - a new era in medical education.

Future Healthc J 2019 Mar;6(Suppl 1):142

East and North Herts NHS Trust.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7861/futurehosp.6-1-s142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616711PMC
March 2019

Clinical genome sequencing in an unbiased pediatric cohort.

Genet Med 2019 02 16;21(2):303-310. Epub 2018 Jul 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0075-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752301PMC
February 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.

View Article

Download full-text PDF

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

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 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

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-017-0481-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668960PMC
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

Download full-text PDF

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

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37960DOI Listing
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

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37617DOI Listing
June 2016

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:

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-014-1608-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390426PMC
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

Download full-text PDF

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

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36927DOI Listing
April 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

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36273DOI Listing
February 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.

View Article

Download full-text PDF

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

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2011.06.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167030PMC
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

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15216942110009
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.1586/eem.09.27
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31678
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31678DOI Listing
September 2007