Margot A Cousin

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Authors:

Theresa Brunet Kirsty McWalter Katharina Mayerhanser Grace M Anbouba Amy Armstrong-Javors Ingrid Bader Evan Baugh Amber Begtrup Caleb P Bupp Bert L Callewaert Anna Cereda Margot A Cousin Juan C Del Rey Jimenez Laurie Demmer Nikita R Dsouza Nicole Fleischer Ralitza H Gavrilova Sumedha Ghate Elisabeth Graf Andrew Green Sarah R Green Maria Iascone Ameni Kdissa Dirk Klee Eric W Klee Emily Lancaster Kristin Lindstrom Johannes A Mayr Meriel McEntagart Naomi J L Meeks Dana Mittag Harrison Moore Anne K Olsen Damara Ortiz Gretchen Parsons Loren D M Pena Richard E Person Sumit Punj Gonzalo Alonso Ramos-Rivera Maria J Guillen Sacoto G Bradley Schaefer Rhonda E Schnur Tiana M Scott Daryl A Scott Carolyn R Serbinski Vandana Shashi Victoria M Siu Barbro Fossøy Stadheim Jennifer A Sullivan Jana Švantnerová Lea Velsher David S Wargowski Ingrid M Wentzensen Dagmar Wieczorek Juliane Winkelmann Patrick Yap Michael Zech Michael T Zimmermann Thomas Meitinger Felix Distelmaier Matias Wagner

Genet Med 2020 Nov 11. Epub 2020 Nov 11.

Institute of Human Genetics, Technical University Munich, Munich, Germany.

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http://dx.doi.org/10.1038/s41436-020-00993-y	DOI Listing

November 2020

Impact of integrated translational research on clinical exome sequencing.

Authors:

Eric W Klee Margot A Cousin Filippo Pinto E Vairo Joel A Morales-Rosado Erica L Macke W Garrett Jenkinson Alejandro Ferrer Laura E Schultz-Rogers Rory J Olson Gavin R Oliver Ashley N Sigafoos Tanya L Schwab Michael T Zimmermann Raul A Urrutia Charu Kaiwar Aditi Gupta Patrick R Blackburn Nicole J Boczek Carri A Prochnow Rebecca J Lowy Lindsay A Mulvihill Tammy M McAllister Stacy L Aoudia Teresa M Kruisselbrink Lauren B Gunderson Jennifer L Kemppainen Laura J Fisher Jessica M Tarnowski Megan M Hager Sarah A Kroc Nicole L Bertsch Katherine E Agre Jessica L Jackson Sarah K Macklin-Mantia Marine I Murphree Laura M Rust Jolene M Summer Bolster Scott A Beck Paldeep S Atwal Marissa S Ellingson Sarah S Barnett Kristen J Rasmussen Carrie A Lahner Zhiyv Niu Linda Hasadsri Matthew J Ferber Cherisse A Marcou Karl J Clark Pavel N Pichurin David R Deyle Eva Morava-Kozicz Ralitza H Gavrilova Radhika Dhamija Klaas J Wierenga Brendan C Lanpher Dusica Babovic-Vuksanovic Gianrico Farrugia Lisa A Schimmenti A Keith Stewart Konstantinos N Lazaridis

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1038/s41436-020-01005-9	DOI Listing

November 2020

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

Acta Neuropathol 2020 Dec 5;140(6):971-975. Epub 2020 Oct 5.

Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.

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http://dx.doi.org/10.1007/s00401-020-02223-w	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665968	PMC

December 2020

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.

Authors:

Joel A Morales-Rosado Erica L Macke Margot A Cousin Gavin R Oliver Radhika Dhamija Eric W Klee

Mol Genet Genomic Med 2020 09 29;8(9):e1341. Epub 2020 Jun 29.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1002/mgg3.1341	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507001	PMC

September 2020

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.

Authors:

Garrett Jenkinson Yang I Li Shubham Basu Margot A Cousin Gavin R Oliver Eric W Klee

Bioinformatics 2020 Nov;36(17):4609-4615

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.

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http://dx.doi.org/10.1093/bioinformatics/btaa259	DOI Listing

November 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Authors:

Sophie Nambot Laurence Faivre Ghayda Mirzaa Julien Thevenon Ange-Line Bruel Anne-Laure Mosca-Boidron Alice Masurel-Paulet Alice Goldenberg Nathalie Le Meur Aude Charollais Cyril Mignot Florence Petit Massimiliano Rossi Julia Metreau Valérie Layet Daniel Amram Odile Boute-Bénéjean Elizabeth Bhoj Margot A Cousin Teresa M Kruisselbrink Brendan C Lanpher Eric W Klee Elise Fiala Dorothy K Grange Wendy S Meschino Susan M Hiatt Gregory M Cooper Hilde Olivié Wendy E Smith Meghan Dumas Anna Lehman Cara Inglese Mathilde Nizon Renzo Guerrini Annalisa Vetro Eitan S Kaplan Dolores Miramar Julien Van Gils Patricia Fergelot Olaf Bodamer Johanna C Herkert Sander Pajusalu Katrin Õunap James J Filiano Thomas Smol Amélie Piton Bénédicte Gérard Sandra Chantot-Bastaraud Thierry Bienvenu Dong Li Jane Juusola Koen Devriendt Frederic Bilan Charlotte Poé Martin Chevarin Thibaud Jouan Emilie Tisserant Jean-Baptiste Rivière Frédéric Tran Mau-Them Christophe Philippe Yannis Duffourd William B Dobyns Robert Hevner Christel Thauvin-Robinet

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452	PMC

June 2020

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

Authors:

Cinthya J Zepeda-Mendoza Margot A Cousin Shubham Basu Garrett Jenkinson Gavin Oliver Siobhan T Pittock Linda B Baughn Eric W Klee Dusica Babovic-Vuksanovic

Cold Spring Harb Mol Case Stud 2019 12 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.a004655	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913153	PMC

December 2019

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Authors:

Gavin R Oliver Xiaojia Tang Laura E Schultz-Rogers Noemi Vidal-Folch W Garrett Jenkinson Tanya L Schwab Krutika Gaonkar Margot A Cousin Asha Nair Shubham Basu Pritha Chanana Devin Oglesbee Eric W Klee

PLoS One 2019 2;14(10):e0223337. Epub 2019 Oct 2.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0223337	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774566	PMC

March 2020

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Authors:

Abhishek A Mangaonkar Alejandro Ferrer Filippo Pinto E Vairo Margot A Cousin Ryan J Kuisle Naseema Gangat William J Hogan Mark R Litzow Tammy M McAllister Eric W Klee Konstantinos N Lazaridis A Keith Stewart Mrinal M Patnaik

Mayo Clin Proc 2019 09 27;94(9):1753-1768. Epub 2019 Jun 27.

Division of Hematology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2019.04.007	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728219	PMC

September 2019

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

Am J Hum Genet 2019 07 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.2019.05.011	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521	PMC

July 2019

Variants in DOCK3 cause developmental delay and hypotonia.

Authors:

Kimberly Wiltrout Alejandro Ferrer Ingrid van de Laar Kazuhiko Namekata Takayuki Harada Eric W Klee Michael T Zimmerman Margot A Cousin Jennifer L Kempainen Dusica Babovic-Vuksanovic Marjon A van Slegtenhorst Coranne D Aarts-Tesselaar Rhonda E Schnur Marisa Andrews Marwan Shinawi

Eur J Hum Genet 2019 08 11;27(8):1225-1234. Epub 2019 Apr 11.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/s41431-019-0397-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777627	PMC

August 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.2019.02.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522	PMC

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	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110	PMC

November 2018

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Authors:

Aude Beyens Juliette Albuisson Annekatrien Boel Mazen Al-Essa Waheed Al-Manea Damien Bonnet Ozlem Bostan Odile Boute Tiffany Busa Nathalie Canham Ergun Cil Paul J Coucke Margot A Cousin Majed Dasouki Julie De Backer Anne De Paepe Sofie De Schepper Deepthi De Silva Koenraad Devriendt Inge De Wandele David R Deyle Harry Dietz Sophie Dupuis-Girod Eudice Fontenot Björn Fischer-Zirnsak Alper Gezdirici Jamal Ghoumid Fabienne Giuliano Neus Baena Mohammed Z Haider Joshua S Hardin Xavier Jeunemaitre Eric W Klee Uwe Kornak Manuel F Landecho Anne Legrand Bart Loeys Stanislas Lyonnet Helen Michael Pamela Moceri Shehla Mohammed Laura Muiño-Mosquera Sheela Nampoothiri Karin Pichler Katrina Prescott Anna Rajeb Maria Ramos-Arroyo Massimiliano Rossi Mustafa Salih Mohammed Z Seidahmed Elise Schaefer Elisabeth Steichen-Gersdorf Sehime Temel Fahrettin Uysal Marine Vanhomwegen Lut Van Laer Lionel Van Maldergem David Warner Andy Willaert Tom R Collins Ii Andrea Taylor Elaine C Davis Yuri Zarate Bert Callewaert

Genet Med 2019 Aug;21(8):1894-1895

Center For Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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http://www.nature.com/articles/s41436-018-0035-3	Publisher Site
http://dx.doi.org/10.1038/s41436-018-0035-3	DOI Listing

August 2019

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Authors:

Nicole J Boczek Katharina Hopp Lacey Benoit Daniel Kraft Margot A Cousin Patrick R Blackburn Charles D Madsen Gavin R Oliver Asha A Nair Jie Na Diana W Bianchi Geoffrey Beek Peter C Harris Pavel Pichurin Eric W Klee

Eur J Hum Genet 2018 12 10;26(12):1797-1809. Epub 2018 Aug 10.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1038/s41431-018-0222-3	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244354	PMC

December 2018

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

Authors:

Michael T Zimmermann Raul Urrutia Margot A Cousin Gavin R Oliver Eric W Klee

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.2018.00276	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068234	PMC

July 2018

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes.

Authors:

Abhishek A Mangaonkar Alejandro Ferrer Filippo Pinto E Vairo Margot A Cousin Ryan J Kuisle Eric W Klee Cassie C Kennedy Steve G Peters J P Scott James P Utz Misbah Baqir Hiroshi Sekiguchi Shakila P Khan Vilmarie Rodriguez Douglas A Simonetto Patrick S Kamath Roshini S Abraham Mark E Wylam Mrinal M Patnaik

Mayo Clin Proc 2018 07;93(7):834-839

Division of Hematology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2018.05.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646091	PMC

July 2018

Co-occurrence of a maternally inherited duplication and a paternally inherited pathogenic variant in in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a dosage effect?

Authors:

Katarzyna Polonis Patrick R Blackburn Raul A Urrutia Gwen A Lomberk Teresa Kruisselbrink Margot A Cousin Nicole J Boczek Nicole L Hoppman Dusica Babovic-Vuksanovic Eric W Klee Pavel N Pichurin

Cold Spring Harb Mol Case Stud 2018 08 1;4(4). Epub 2018 Aug 1.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a002899	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071565	PMC

August 2018

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Authors:

Margot A Cousin Matthew J Smith Ashley N Sigafoos Jay J Jin Marine I Murphree Nicole J Boczek Patrick R Blackburn Gavin R Oliver Ross A Aleff Karl J Clark Eric D Wieben Avni Y Joshi Pavel N Pichurin Roshini S Abraham Eric W Klee

J Clin Immunol 2018 04 18;38(3):307-319. Epub 2018 Apr 18.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s10875-018-0499-6	DOI Listing

April 2018

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Authors:

Patrick R Blackburn Zhi Xu Kathleen E Tumelty Rose W Zhao William J Monis Kimberly G Harris Jennifer M Gass Margot A Cousin Nicole J Boczek Mario V Mitkov Mark A Cappel Clair A Francomano Joseph E Parisi Eric W Klee Eissa Faqeih Fowzan S Alkuraya Matthew D Layne Nazli B McDonnell Paldeep S Atwal

Am J Hum Genet 2018 04 29;102(4):696-705. Epub 2018 Mar 29.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.018	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985336	PMC

April 2018

Arterial tortuosity syndrome: 40 new families and literature review.

Authors:

Aude Beyens Juliette Albuisson Annekatrien Boel Mazen Al-Essa Waheed Al-Manea Damien Bonnet Ozlem Bostan Odile Boute Tiffany Busa Nathalie Canham Ergun Cil Paul J Coucke Margot A Cousin Majed Dasouki Julie De Backer Anne De Paepe Sofie De Schepper Deepthi De Silva Koenraad Devriendt Inge De Wandele David R Deyle Harry Dietz Sophie Dupuis-Girod Eudice Fontenot Björn Fischer-Zirnsak Alper Gezdirici Jamal Ghoumid Fabienne Giuliano Neus Baena Diéz Mohammed Z Haider Joshua S Hardin Xavier Jeunemaitre Eric W Klee Uwe Kornak Manuel F Landecho Anne Legrand Bart Loeys Stanislas Lyonnet Helen Michael Pamela Moceri Shehla Mohammed Laura Muiño-Mosquera Sheela Nampoothiri Karin Pichler Katrina Prescott Anna Rajeb Maria Ramos-Arroyo Massimiliano Rossi Mustafa Salih Mohammed Z Seidahmed Elise Schaefer Elisabeth Steichen-Gersdorf Sehime Temel Fahrettin Uysal Marine Vanhomwegen Lut Van Laer Lionel Van Maldergem David Warner Andy Willaert Tom R Collins Andrea Taylor Elaine C Davis Yuri Zarate Bert Callewaert

Genet Med 2018 10 11;20(10):1236-1245. Epub 2018 Jan 11.

Center For Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/gim.2017.253	DOI Listing

October 2018

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Authors:

Filippo Pinto Vairo Nicole J Boczek Margot A Cousin Charu Kaiwar Patrick R Blackburn Erin Conboy Brendan C Lanpher Ralitza H Gavrilova Pavel N Pichurin Konstantinos N Lazaridis Dusica Babovic-Vuksanovic Eric W Klee

Mol Genet Metab Rep 2017 Dec 11;13:46-51. Epub 2017 Aug 11.

Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2017.08.001	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554961	PMC

December 2017

Functional validation reveals the novel missense V419L variant in associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

Authors:

Margot A Cousin Michael T Zimmermann Angela J Mathison Patrick R Blackburn Nicole J Boczek Gavin R Oliver Gwen A Lomberk Raul A Urrutia David R Deyle Eric W Klee

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1101/mcs.a001727	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495030	PMC

July 2017

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in .

Authors:

Patrick R Blackburn Duygu Selcen Jennifer M Gass Jessica L Jackson Sarah Macklin Margot A Cousin Nicole J Boczek Eric W Klee Elliot L Dimberg Kathleen D Kennelly Paldeep S Atwal

Mol Genet Genomic Med 2017 May 30;5(3):295-302. Epub 2017 Mar 30.

Center for Individualized MedicineMayo ClinicJacksonvilleFlorida.

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http://dx.doi.org/10.1002/mgg3.280	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441401	PMC

May 2017

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.

Authors:

Margot A Cousin Eric T Matey Patrick R Blackburn Nicole J Boczek Tammy M McAllister Teresa M Kruisselbrink Dusica Babovic-Vuksanovic Konstantinos N Lazaridis Eric W Klee

Mol Genet Genomic Med 2017 May 19;5(3):269-279. Epub 2017 Mar 19.

Center for Individualized MedicineMayo ClinicRochesterMinnesota.

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http://dx.doi.org/10.1002/mgg3.283	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441410	PMC

May 2017

Novel de novo variant in is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Authors:

Patrick R Blackburn Sarah S Barnett Michael T Zimmermann Margot A Cousin Charu Kaiwar Filippo Pinto E Vairo Zhiyv Niu Matthew J Ferber Raul A Urrutia Duygu Selcen Eric W Klee Pavel N Pichurin

Cold Spring Harb Mol Case Stud 2017 05;3(3):a001743

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs	Publisher Site
http://dx.doi.org/10.1101/mcs.a001743	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411688	PMC

May 2017

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

Authors:

Patrick R Blackburn Monique Williams Margot A Cousin Nicole J Boczek Geoffrey J Beek Gwen A Lomberk Raul A Urrutia Dusica Babovic-Vuksanovic Eric W Klee

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/mgg3.268	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370226	PMC

March 2017

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

Authors:

Nicole J Boczek Teresa Kruisselbrink Margot A Cousin Patrick R Blackburn Eric W Klee Ralitza H Gavrilova Brendan C Lanpher

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.38113	DOI Listing

May 2017

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Nat Genet 2017 Apr 13;49(4):527-536. Epub 2017 Mar 13.

Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/ng.3808	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374026	PMC

April 2017

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

Authors:

Michael T Zimmermann Raul Urrutia Gavin R Oliver Patrick R Blackburn Margot A Cousin Nicole J Bozeck Eric W Klee

PLoS One 2017 9;12(2):e0170822. Epub 2017 Feb 9.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170822	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300139	PMC

August 2017

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

Authors:

Michael T Zimmermann Raul A Urrutia Patrick R Blackburn Margot A Cousin Nicole J Boczek Eric W Klee Colleen Macmurdo Paldeep S Atwal

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/10.1155/2017/7263780	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253504	PMC

January 2017

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Authors:

Patrick R Blackburn Alexander Tischer Michael T Zimmermann Jennifer L Kemppainen Sujatha Sastry Amy E Knight Johnson Margot A Cousin Nicole J Boczek Gavin Oliver Vinod K Misra Ralitza H Gavrilova Gwen Lomberk Matthew Auton Raul Urrutia Eric W Klee

J Biol Chem 2017 03 5;292(9):3866-3876. Epub 2017 Jan 5.

the Department of Clinical Genomics,

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http://dx.doi.org/10.1074/jbc.M116.770545	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339767	PMC

March 2017

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

Authors:

Juliana Perez Botero Dong Chen Margot A Cousin Julie A Majerus Lea M Coon Teresa M Kruisselbrink Eric W Klee Konstantinos N Lazaridis Rajiv K Pruthi Mrinal M Patnaik

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/10.1080/10428194.2016.1265118	DOI Listing

August 2017

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Authors:

Patrick R Blackburn Michael T Zimmermann Jennifer M Gass Kimberly G Harris Margot A Cousin Nicole J Boczek Owen A Ross Eric W Klee Paul W Brazis Jay A Van Gerpen Paldeep S Atwal

BMC Med Genet 2016 Dec 5;17(1):93. Epub 2016 Dec 5.

Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.

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http://dx.doi.org/10.1186/s12881-016-0354-7	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5139108	PMC

December 2016

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

Authors:

Patrick R Blackburn Duygu Selcen Jessica L Jackson Kimberly J Guthrie Margot A Cousin Nicole J Boczek Kristin E Clift Eric W Klee Elliot L Dimberg Paldeep S Atwal

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.25471	DOI Listing

May 2017

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

Authors:

Robert Gerlai Tanya L Poshusta Mindy Rampersad Yohaan Fernandes Tammy M Greenwood Margot A Cousin Eric W Klee Karl J Clark

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-y	DOI Listing

January 2017

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

Authors:

Nicole J Boczek Ashley N Sigafoos Michael T Zimmermann Rachel L Maus Margot A Cousin Patrick R Blackburn Raul Urrutia Karl J Clark Marc C Patterson Myra J Wick Eric W Klee

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/ccr3.655	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018595	PMC

September 2016

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

Authors:

Margot A Cousin Alexandra J Greenberg Tyler H Koep Diana Angius Michael J Yaszemski Robert J Spinner Anthony J Windebank

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.2016.0060	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124733	PMC

December 2016

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Mayo Clin Proc 2016 Mar;91(3):297-307

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.mayocp.2015.12.018	DOI Listing

March 2016

A Critical Review of Repurposing Apomorphine for Smoking Cessation.

Authors:

Joel A Morales-Rosado Margot A Cousin Jon O Ebbert Eric W Klee

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.2015.680	DOI Listing

December 2015

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

Authors:

Margot A Cousin Jon O Ebbert Amanda R Wiinamaki Mark D Urban David P Argue Stephen C Ekker Eric W Klee

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.0090467	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962344	PMC

January 2015

Reducing the noise in behavioral assays: sex and age in adult zebrafish locomotion.

Authors:

Catelyn Philpott Corey J Donack Margot A Cousin Chris Pierret

Zebrafish 2012 Dec;9(4):191-4

Lincoln K-8 Choice School, Rochester, Minnesota, USA.

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http://www.liebertpub.com/doi/10.1089/zeb.2012.0764	Publisher Site
http://dx.doi.org/10.1089/zeb.2012.0764	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528087	PMC

December 2012

Zebrafish: a model for the study of addiction genetics.

Authors:

Eric W Klee Henning Schneider Karl J Clark Margot A Cousin Jon O Ebbert W Michael Hooten Victor M Karpyak David O Warner Stephen C Ekker

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/s00439-011-1128-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860818	PMC

June 2012

Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry, and digital image analysis for diagnosing molar and nonmolar products of conception.

Authors:

Benjamin R Kipp Rhett P Ketterling Trynda N Oberg Margot A Cousin Amy M Plagge Anne E Wiktor Johnita M Ihrke Cecelia H Meyers William G Morice Kevin C Halling Amy C Clayton

Am J Clin Pathol 2010 Feb;133(2):196-204

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

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http://dx.doi.org/10.1309/AJCPV7BRDUCX0WAQ	DOI Listing

February 2010

Publications by authors named "Margot A Cousin"

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