Publications by authors named "Mayra Martinez Ojeda"

7Publications

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.

Authors:
Alexander M Holtz Amanda W Harrington Erin R McNamara Agnieszka Kielian Janet S Soul Mayra Martinez-Ojeda Philip T Levy

Eur J Med Genet 2020 Apr 5;63(4):103802. Epub 2019 Nov 5.

Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:

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April 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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January 2020

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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April 2019

A novel mutation in the POLE2 gene causing combined immunodeficiency.

Authors:
Francesco Frugoni Kerry Dobbs Kerstin Felgentreff Hasan Aldhekri Bandar K Al Saud Rand Arnaout Afshan Ashraf Ali Avinash Abhyankar Fayhan Alroqi Silvia Giliani Mayra Martinez Ojeda Erdyni Tsitsikov Sung-Yun Pai Jean Laurent Casanova Luigi D Notarangelo John P Manis

J Allergy Clin Immunol 2016 Feb 11;137(2):635-638.e1. Epub 2015 Sep 11.

Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address:

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February 2016

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Authors:
Whitney Wooderchak-Donahue Chad VanSant-Webb Tatiana Tvrdik Parker Plant Tracey Lewis Jennifer Stocks Joshua A Raney Lindsay Meyers Alizabeth Berg Alan F Rope Anji T Yetman Steven B Bleyl Rebecca Mesley David A Bull R Thomas Collins Mayra Martinez Ojeda Amy Roberts Ronald Lacro Audrey Woerner Joan Stoler Pinar Bayrak-Toydemir

Am J Med Genet A 2015 Aug 5;167A(8):1747-57. Epub 2015 May 5.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.

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August 2015

Case of infantile onset spinocerebellar ataxia type 5.

Authors:
Francois-Dominique Jacob Eugenia S Ho Mayra Martinez-Ojeda Basil T Darras Omar S Khwaja

J Child Neurol 2013 Oct 21;28(10):1292-5. Epub 2012 Aug 21.

1Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA.

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October 2013