Publications by authors named "Emily G Farrow"

36 Publications

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Authors:
Dongxue Mao Chloe M Reuter Maura R Z Ruzhnikov Anita E Beck Emily G Farrow Lisa T Emrick Jill A Rosenfeld Katherine M Mackenzie Laurie Robak Matthew T Wheeler Lindsay C Burrage Mahim Jain Pengfei Liu Daniel Calame Sébastien Küry Martin Sillesen Klaus Schmitz-Abe Davide Tonduti Luigina Spaccini Maria Iascone Casie A Genetti Mary K Koenig Madeline Graf Alyssa Tran Mercedes Alejandro Brendan H Lee Isabelle Thiffault Pankaj B Agrawal Jonathan A Bernstein Hugo J Bellen Hsiao-Tuan Chao

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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April 2020

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

Authors:
Lauren E Amos Byunggil Yoo Neil Miller Emily G Farrow Adam Walter Margaret Gibson Sara Durham Suzanne Herd Sarah Soden Shannon L Carpenter

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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September 2019

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

Authors:
Johanna M Huusko Minna K Karjalainen Britney E Graham Ge Zhang Emily G Farrow Neil A Miller Bo Jacobsson Haley R Eidem Jeffrey C Murray Bruce Bedell Patrick Breheny Noah W Brown Frans L Bødker Nadia K Litterman Pan-Pan Jiang Laura Russell David A Hinds Youna Hu Antonis Rokas Kari Teramo Kaare Christensen Scott M Williams Mika Rämet Stephen F Kingsmore Kelli K Ryckman Mikko Hallman Louis J Muglia

PLoS Genet 2018 09 13;14(9):e1007673. Epub 2018 Sep 13.

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September 2018

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

Authors:
Johanna M Huusko Minna K Karjalainen Britney E Graham Ge Zhang Emily G Farrow Neil A Miller Bo Jacobsson Haley R Eidem Jeffrey C Murray Bruce Bedell Patrick Breheny Noah W Brown Frans L Bødker Nadia K Litterman Pan-Pan Jiang Laura Russell David A Hinds Youna Hu Antonis Rokas Kari Teramo Kaare Christensen Scott M Williams Mika Rämet Stephen F Kingsmore Kelli K Ryckman Mikko Hallman Louis J Muglia

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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July 2018

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Authors:
Josh E Petrikin Julie A Cakici Michelle M Clark Laurel K Willig Nathaly M Sweeney Emily G Farrow Carol J Saunders Isabelle Thiffault Neil A Miller Lee Zellmer Suzanne M Herd Anne M Holmes Serge Batalov Narayanan Veeraraghavan Laurie D Smith David P Dimmock J Steven Leeder Stephen F Kingsmore

NPJ Genom Med 2018 9;3. Epub 2018 Feb 9.

Rady Children's Institute for Genomic Medicine, San Diego, CA 92123 USA.

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February 2018

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, , from whole-genome sequences.

Authors:
Greyson P Twist Andrea Gaedigk Neil A Miller Emily G Farrow Laurel K Willig Darrell L Dinwiddie Josh E Petrikin Sarah E Soden Suzanne Herd Margaret Gibson Julie A Cakici Amanda K Riffel J Steven Leeder Deendayal Dinakarpandian Stephen F Kingsmore

NPJ Genom Med 2017 11;2:16039. Epub 2017 Jan 11.

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January 2017

Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow.

Authors:
Erica L Clinkenbeard Mark R Hanudel Keith R Stayrook Hitesh Nidumanda Appaiah Emily G Farrow Taryn A Cass Lelia J Summers Colin S Ip Julia M Hum Joseph C Thomas Mircea Ivan Briana M Richine Rebecca J Chan Thomas L Clemens Ernestina Schipani Yves Sabbagh Linlin Xu Edward F Srour Marta B Alvarez Melissa A Kacena Isidro B Salusky Tomas Ganz Elizabeta Nemeth Kenneth E White

Haematologica 2017 11 17;102(11):e427-e430. Epub 2017 Aug 17.

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

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November 2017

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Authors:
Michelle M Giddens Jennifer C Wong Jason P Schroeder Emily G Farrow Brilee M Smith Sharon Owino Sarah E Soden Rebecca C Meyer Carol Saunders J B LePichon David Weinshenker Andrew Escayg Randy A Hall

Neurobiol Dis 2017 Oct 6;106:181-190. Epub 2017 Jul 6.

Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address:

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October 2017

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

Authors:
Andrea Gaedigk Greyson P Twist Emily G Farrow Jennifer A Lowry Sarah E Soden Neil A Miller

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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April 2017

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Authors:
Vera Gallo Laura Dotta Giuliana Giardino Emilia Cirillo Vassilios Lougaris Roberta D'Assante Alberto Prandini Rita Consolini Emily G Farrow Isabelle Thiffault Carol J Saunders Antonio Leonardi Alessandro Plebani Raffaele Badolato Claudio Pignata

Front Immunol 2016 7;7:466. Epub 2016 Nov 7.

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

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November 2016

Clinical detection of deletion structural variants in whole-genome sequences.

Authors:
Aaron C Noll Neil A Miller Laurie D Smith Byunggil Yoo Stephanie Fiedler Linda D Cooley Laurel K Willig Josh E Petrikin Julie Cakici John Lesko Angela Newton Kali Detherage Isabelle Thiffault Carol J Saunders Emily G Farrow Stephen F Kingsmore

NPJ Genom Med 2016 3;1:16026. Epub 2016 Aug 3.

Heartland Institute for Clinical and Translational Research, University of Kansas Medical Center, Kansas City, KS, USA.

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August 2016

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, , from whole-genome sequences.

Authors:
Greyson P Twist Andrea Gaedigk Neil A Miller Emily G Farrow Laurel K Willig Darrell L Dinwiddie Josh E Petrikin Sarah E Soden Suzanne Herd Margaret Gibson Julie A Cakici Amanda K Riffel J Steven Leeder Deendayal Dinakarpandian Stephen F Kingsmore

NPJ Genom Med 2016 13;1:15007. Epub 2016 Jan 13.

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

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January 2016

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

Authors:
Giuliana Giardino Vera Gallo Domenico Somma Emily G Farrow Isabelle Thiffault Roberta D'Assante Vittoria Donofrio Mariateresa Paciolla Matilde Valeria Ursini Antonio Leonardi Carol J Saunders Claudio Pignata

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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May 2016

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

Authors:
Isabelle Thiffault David J Speca Daniel C Austin Melanie M Cobb Kenneth S Eum Nicole P Safina Lauren Grote Emily G Farrow Neil Miller Sarah Soden Stephen F Kingsmore James S Trimmer Carol J Saunders Jon T Sack

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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November 2015

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Authors:
Anne Guimier George C Gabriel Fanny Bajolle Michael Tsang Hui Liu Aaron Noll Molly Schwartz Rajae El Malti Laurie D Smith Nikolai T Klena Gina Jimenez Neil A Miller Myriam Oufadem Anne Moreau de Bellaing Hisato Yagi Carol J Saunders Candice N Baker Sylvie Di Filippo Kevin A Peterson Isabelle Thiffault Christine Bole-Feysot Linda D Cooley Emily G Farrow Cécile Masson Patric Schoen Jean-François Deleuze Patrick Nitschké Stanislas Lyonnet Loic de Pontual Stephen A Murray Damien Bonnet Stephen F Kingsmore Jeanne Amiel Patrice Bouvagnet Cecilia W Lo Christopher T Gordon

Nat Genet 2015 Nov 5;47(11):1260-3. Epub 2015 Oct 5.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France.

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November 2015

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Authors:
Neil A Miller Emily G Farrow Margaret Gibson Laurel K Willig Greyson Twist Byunggil Yoo Tyler Marrs Shane Corder Lisa Krivohlavek Adam Walter Josh E Petrikin Carol J Saunders Isabelle Thiffault Sarah E Soden Laurie D Smith Darrell L Dinwiddie Suzanne Herd Julie A Cakici Severine Catreux Mike Ruehle Stephen F Kingsmore

Genome Med 2015 Sep 30;7:100. Epub 2015 Sep 30.

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

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September 2015

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

Authors:
Laurel K Willig Josh E Petrikin Laurie D Smith Carol J Saunders Isabelle Thiffault Neil A Miller Sarah E Soden Julie A Cakici Suzanne M Herd Greyson Twist Aaron Noll Mitchell Creed Patria M Alba Shannon L Carpenter Mark A Clements Ryan T Fischer J Allyson Hays Howard Kilbride Ryan J McDonough Jamie L Rosterman Sarah L Tsai Lee Zellmer Emily G Farrow Stephen F Kingsmore

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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May 2015

Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:
Jan D Marshall Jean Muller Gayle B Collin Gabriella Milan Stephen F Kingsmore Darrell Dinwiddie Emily G Farrow Neil A Miller Francesca Favaretto Pietro Maffei Hélène Dollfus Roberto Vettor Jürgen K Naggert

Hum Mutat 2015 Jul 18;36(7):660-8. Epub 2015 May 18.

The Jackson Laboratory, Bar Harbor, Maine.

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July 2015

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Authors:
Carol J Saunders Sung Ho Moon Xinping Liu Isabelle Thiffault Keith Coffman Jean-Baptiste LePichon Eugenio Taboada Laurie D Smith Emily G Farrow Neil Miller Margaret Gibson Melanie Patterson Stephen F Kingsmore Richard W Gross

Hum Mutat 2015 Mar;36(3):301-6

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

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March 2015

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

Authors:
Sarah E Soden Carol J Saunders Laurel K Willig Emily G Farrow Laurie D Smith Josh E Petrikin Jean-Baptiste LePichon Neil A Miller Isabelle Thiffault Darrell L Dinwiddie Greyson Twist Aaron Noll Bryce A Heese Lee Zellmer Andrea M Atherton Ahmed T Abdelmoity Nicole Safina Sarah S Nyp Britton Zuccarelli Ingrid A Larson Ann Modrcin Suzanne Herd Mitchell Creed Zhaohui Ye Xuan Yuan Robert A Brodsky Stephen F Kingsmore

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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December 2014

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

Authors:
Darrell L Dinwiddie Sarah E Soden Carol J Saunders Neil A Miller Emily G Farrow Laurie D Smith Stephen F Kingsmore

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.

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September 2013

Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice.

Authors:
Erica L Clinkenbeard Emily G Farrow Lelia J Summers Taryn A Cass Jessica L Roberts Christine A Bayt Tim Lahm Marjorie Albrecht Matthew R Allen Munro Peacock Kenneth E White

J Bone Miner Res 2014 Feb;29(2):361-9

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

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February 2014

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

Authors:
Darrell L Dinwiddie Laurie D Smith Neil A Miller Andrea M Atherton Emily G Farrow Meghan E Strenk Sarah E Soden Carol J Saunders Stephen F Kingsmore

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.

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September 2013

Circulating αKlotho influences phosphate handling by controlling FGF23 production.

Authors:
Rosamund C Smith Linda M O'Bryan Emily G Farrow Lelia J Summers Erica L Clinkenbeard Jessica L Roberts Taryn A Cass Joy Saha Carol Broderick Y Linda Ma Qing Qiang Zeng Alexei Kharitonenkov Jonathan M Wilson Qianxu Guo Haijun Sun Matthew R Allen David B Burr Matthew D Breyer Kenneth E White

J Clin Invest 2012 Dec 26;122(12):4710-5. Epub 2012 Nov 26.

Biotechnology Discovery Research, Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.

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December 2012

Genomic medicine: evolving science, evolving ethics.

Authors:
Sarah E Soden Emily G Farrow Carol J Saunders John D Lantos

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

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

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January 2012

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

Authors:
Stephen F Kingsmore John D Lantos Darrell L Dinwiddie Neil A Miller Sarah E Soden Emily G Farrow Carol J Saunders

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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May 2014

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

Authors:
Emily G Farrow Erik A Imel Kenneth E White

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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October 2011

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Authors:
Emily G Farrow Xijie Yu Lelia J Summers Siobhan I Davis James C Fleet Matthew R Allen Alexander G Robling Keith R Stayrook Victoria Jideonwo Martin J Magers Holly J Garringer Ruben Vidal Rebecca J Chan Charles B Goodwin Siu L Hui Munro Peacock Kenneth E White

Proc Natl Acad Sci U S A 2011 Nov 17;108(46):E1146-55. Epub 2011 Oct 17.

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

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November 2011

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

Authors:
Emily G Farrow Lelia J Summers Susan C Schiavi James A McCormick David H Ellison Kenneth E White

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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October 2010

Tumor-induced osteomalacia.

Authors:
Emily G Farrow Kenneth E White

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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September 2009