Publications by authors named "Keri Ramsey"

60Publications

Congenital myasthenic syndrome caused by a frameshift insertion mutation in .

Neurol Genet 2020 Aug 30;6(4):e468. Epub 2020 Jun 30.

theNeurogenomics Division (S.S., J.K., K.R., N.B., C.B., A.L.S., M.R., R.R., M.D.B., A.M.C., M.J.H, V.N., S.R.), Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ; Fulgent Genetics (S.P.S.), Temple City, CA; Department of Neurology (P.B.S.), University of California Los Angeles; David Geffen School of Medicine (P.B.S.), Los Angeles; Department of Pathology and Laboratory Medicine (H.L., S.F.N.), University of California, Los Angeles; Department of Human Genetics (H.L., S.F.N.), David Geffen School of Medicine; Department of Neurology (I.S.), Columbia University, Center for Statistical Genetics, New York; Department of Translational Genomics (D.W.C.), University of Southern California, Los Angeles; Providence Sacred Heart Medical Center and Children's Hospital (S.P.Y.), Spokane, WA; Department of Pathology (S.A.M), University of Iowa, Carver College of Medicine; and Neuromuscular Clinic and Research Center (K.S.), Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357421PMC
August 2020

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Semin Pediatr Neurol 2018 07 16;26:28-32. Epub 2017 Aug 16.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ; School of Life Sciences, Arizona State University, Tempe, AZ. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.008DOI Listing
July 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

A gain-of-function mutation in the gene causes neurodevelopmental deficits.

Neurol Genet 2017 Feb 31;3(1):e129. Epub 2017 Jan 31.

Department of Pharmacology (Y.F.G., J.R.S., G.T.S.), Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Rare Childhood Disorders (K.R., D.W.C., M.J.H., V.N.), and Neurogenomics Division (K.R., D.W.C., M.J.H., V.N.), Translational Genomics Research Institute, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286855PMC
February 2017

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.

Mov Disord 2016 11 22;31(11):1752-1753. Epub 2016 Sep 22.

Program in Neuroscience, Arizona State University, Tempe, Arizona, USA.

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http://dx.doi.org/10.1002/mds.26800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380585PMC
November 2016

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

F1000Res 2015 28;4:912. Epub 2015 Sep 28.

Arizona Pediatric Neurology & Neurogenetics Associates, Phoenix, AZ, USA ; Barrow Neurological Institute, Phoenix, AZ, USA ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.12688/f1000research.7106.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617320PMC
November 2015

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PLoS One 2015 15;10(7):e0131797. Epub 2015 Jul 15.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131797PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503302PMC
April 2016

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3896-904

Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, United States 2Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States.

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http://dx.doi.org/10.1167/iovs.14-16261DOI Listing
June 2015

Autism and increased paternal age related changes in global levels of gene expression regulation.

PLoS One 2011 Feb 17;6(2):e16715. Epub 2011 Feb 17.

Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0016715PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040743PMC
February 2011

Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (hypermethylated in cancer 1).

J Biol Chem 2009 Jul 12;284(31):20927-35. Epub 2009 Jun 12.

CNRS UMR 8161 Institut de Biologie de Lille, Université de Lille NORD de France, Institut Pasteur de Lille, 59017 Lille, France.

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http://dx.doi.org/10.1074/jbc.M109.022350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742858PMC
July 2009

Identification of novel gene expression in healing fracture callus tissue by DNA microarray.

HSS J 2008 Sep 28;4(2):149-60. Epub 2008 Aug 28.

Department of Orthopaedic Surgery, University of California, 4860 Y Street, Suite 1700, Davis, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1007/s11420-008-9087-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553169PMC
September 2008

Microarray and protein analysis of human pterygium.

Mol Vis 2006 Jan 23;12:55-64. Epub 2006 Jan 23.

National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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January 2006

Gene and protein expression changes in human trabecular meshwork cells treated with transforming growth factor-beta.

Invest Ophthalmol Vis Sci 2004 Nov;45(11):4023-34

Section on Aging and Ocular Disease, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1167/iovs.04-0535DOI Listing
November 2004