Margot A Cousin

Margot A Cousin

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Margot A Cousin

Margot A Cousin

Publications by authors named "Margot A Cousin"

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An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harb Mol Case Stud 2019 Dec 13;5(6). Epub 2019 Dec 13.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a004655DOI Listing
December 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 Jul 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.

Front Genet 2018 25;9:276. Epub 2018 Jul 25.

Department of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States.

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http://dx.doi.org/10.3389/fgene.2018.00276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068234PMC
July 2018

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

Leuk Lymphoma 2017 08 8;58(8):1963-1967. Epub 2016 Dec 8.

a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.

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http://dx.doi.org/10.1080/10428194.2016.1265118DOI Listing
August 2017

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Muscle Nerve 2017 05 23;55(5):E19-E21. Epub 2017 Feb 23.

Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.

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http://dx.doi.org/10.1002/mus.25471DOI Listing
May 2017

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Am J Med Genet A 2017 May 21;173(5):1328-1333. Epub 2017 Mar 21.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38113DOI Listing
May 2017

A novel frameshift deletion in in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Mol Genet Genomic Med 2017 Mar 26;5(2):141-146. Epub 2017 Jan 26.

Center for Individualized MedicineMayo ClinicRochesterMinnesota55901; Department of Health Science ResearchMayo ClinicRochesterMinnesota55901; Department of Clinical GenomicsMayo ClinicRochesterMinnesota55901; Department of Laboratory Medicine and PathologyMayo ClinicRochesterMinnesota55901.

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http://doi.wiley.com/10.1002/mgg3.268
Publisher Site
http://dx.doi.org/10.1002/mgg3.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370226PMC
March 2017

Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.

Behav Genet 2017 Jan 5;47(1):125-139. Epub 2016 Oct 5.

Department of Biochemistry and Molecular Biology, Mayo Clinic, Guggenheim 13, 221 4th Ave. SW, Rochester, MN, 55902, USA.

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http://dx.doi.org/10.1007/s10519-016-9818-yDOI Listing
January 2017

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Case Rep Genet 2017 9;2017:7263780. Epub 2017 Jan 9.

Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1155/2017/7263780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253504PMC
January 2017

The Value of Systematic Reviews in Estimating the Cost and Barriers to Translation in Tissue Engineering.

Tissue Eng Part B Rev 2016 12 22;22(6):430-437. Epub 2016 Aug 22.

1 Center for Clinical and Translational Science, Mayo Clinic , Rochester, Minnesota.

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http://dx.doi.org/10.1089/ten.TEB.2016.0060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124733PMC
December 2016

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Clin Case Rep 2016 09 15;4(9):885-95. Epub 2016 Aug 15.

Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biomedical Informatics Mayo Clinic Rochester Minnesota USA; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.

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http://dx.doi.org/10.1002/ccr3.655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018595PMC
September 2016

A Critical Review of Repurposing Apomorphine for Smoking Cessation.

Assay Drug Dev Technol 2015 Dec;13(10):612-22

2 Mayo Addiction Research Center, Mayo Clinic , Rochester, Minnesota.

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http://dx.doi.org/10.1089/adt.2015.680DOI Listing
December 2015

Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment.

PLoS One 2014 21;9(3):e90467. Epub 2014 Mar 21.

Mayo Addiction Research Center, Mayo Clinic, Rochester, Minnesota, United States of America; Center for Clinical and Translational Science, Mayo Clinic, Rochester, Minnesota, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090467PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962344PMC
January 2015

Zebrafish: a model for the study of addiction genetics.

Hum Genet 2012 Jun 30;131(6):977-1008. Epub 2011 Dec 30.

Mayo Addiction Research Center, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00439-011-1128-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860818PMC
June 2012