Publications by authors named "Elise Valkanas"

13 Publications

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Author Correction: A structural variation reference for medical and population genetics.

Authors:
Ryan L Collins Harrison Brand Konrad J Karczewski Xuefang Zhao Jessica Alföldi Laurent C Francioli Amit V Khera Chelsea Lowther Laura D Gauthier Harold Wang Nicholas A Watts Matthew Solomonson Anne O'Donnell-Luria Alexander Baumann Ruchi Munshi Mark Walker Christopher W Whelan Yongqing Huang Ted Brookings Ted Sharpe Matthew R Stone Elise Valkanas Jack Fu Grace Tiao Kristen M Laricchia Valentin Ruano-Rubio Christine Stevens Namrata Gupta Caroline Cusick Lauren Margolin Kent D Taylor Henry J Lin Stephen S Rich Wendy S Post Yii-Der Ida Chen Jerome I Rotter Chad Nusbaum Anthony Philippakis Eric Lander Stacey Gabriel Benjamin M Neale Sekar Kathiresan Mark J Daly Eric Banks Daniel G MacArthur Michael E Talkowski

Nature 2021 Feb;590(7846):E55

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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February 2021

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Authors:
Ana Töpf Katherine Johnson Adam Bates Lauren Phillips Katherine R Chao Eleina M England Kristen M Laricchia Thomas Mullen Elise Valkanas Liwen Xu Marta Bertoli Alison Blain Ana B Casasús Jennifer Duff Magdalena Mroczek Sabine Specht Monkol Lek Monica Ensini Daniel G MacArthur Volker Straub

Genet Med 2020 Sep 11;22(9):1478-1488. Epub 2020 Jun 11.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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September 2020

A structural variation reference for medical and population genetics.

Authors:
Ryan L Collins Harrison Brand Konrad J Karczewski Xuefang Zhao Jessica Alföldi Laurent C Francioli Amit V Khera Chelsea Lowther Laura D Gauthier Harold Wang Nicholas A Watts Matthew Solomonson Anne O'Donnell-Luria Alexander Baumann Ruchi Munshi Mark Walker Christopher W Whelan Yongqing Huang Ted Brookings Ted Sharpe Matthew R Stone Elise Valkanas Jack Fu Grace Tiao Kristen M Laricchia Valentin Ruano-Rubio Christine Stevens Namrata Gupta Caroline Cusick Lauren Margolin Kent D Taylor Henry J Lin Stephen S Rich Wendy S Post Yii-Der Ida Chen Jerome I Rotter Chad Nusbaum Anthony Philippakis Eric Lander Stacey Gabriel Benjamin M Neale Sekar Kathiresan Mark J Daly Eric Banks Daniel G MacArthur Michael E Talkowski

Nature 2020 05 27;581(7809):444-451. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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May 2020

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Authors:
Madhurima Saha Hemakumar M Reddy Mustafa A Salih Elicia Estrella Michael D Jones Satomi Mitsuhashi Kyung-Ah Cho Silveli Suzuki-Hatano Skylar A Rizzo Muddathir H Hamad Maowia M Mukhtar Ahlam A Hamed Maha A Elseed Monkol Lek Elise Valkanas Daniel G MacArthur Louis M Kunkel Christina A Pacak Isabelle Draper Peter B Kang

Physiol Genomics 2018 11 31;50(11):929-939. Epub 2018 Aug 31.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.

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November 2018

matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Authors:
Harindra Arachchi Monica H Wojcik Benjamin Weisburd Julius O B Jacobsen Elise Valkanas Samantha Baxter Alicia B Byrne Anne H O'Donnell-Luria Melissa Haendel Damian Smedley Daniel G MacArthur Anthony A Philippakis Heidi L Rehm

Hum Mutat 2018 12 3;39(12):1827-1834. Epub 2018 Oct 3.

Center for Mendelian Genomics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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December 2018

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Authors:
Farzad Jamshidi Emily M Place Sudeep Mehrotra Daniel Navarro-Gomez Mathew Maher Kari E Branham Elise Valkanas Timothy J Cherry Monkol Lek Daniel MacArthur Eric A Pierce Kinga M Bujakowska

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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March 2019

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Authors:
Katherine Johnson Marta Bertoli Lauren Phillips Ana Töpf Peter Van den Bergh John Vissing Nanna Witting Shahriar Nafissi Shirin Jamal-Omidi Anna Łusakowska Anna Kostera-Pruszczyk Anna Potulska-Chromik Nicolas Deconinck Carina Wallgren-Pettersson Sonja Strang-Karlsson Jaume Colomer Kristl G Claeys Willem De Ridder Jonathan Baets Maja von der Hagen Roberto Fernández-Torrón Miren Zulaica Ijurco Juan Bautista Espinal Valencia Andreas Hahn Hacer Durmus Tracey Willis Liwen Xu Elise Valkanas Thomas E Mullen Monkol Lek Daniel G MacArthur Volker Straub

Skelet Muscle 2018 07 30;8(1):23. Epub 2018 Jul 30.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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July 2018

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Authors:
Timothy Gall Elise Valkanas Christofer Bello Thomas Markello Christopher Adams William P Bone Alexander J Brandt Jennifer M Brazill Lynn Carmichael Mariska Davids Joie Davis Zoraida Diaz-Perez David Draper Jeremy Elson Elise D Flynn Rena Godfrey Catherine Groden Cheng-Kang Hsieh Roxanne Fischer Gretchen A Golas Jessica Guzman Yan Huang Megan S Kane Elizabeth Lee Chong Li Amanda E Links Valerie Maduro May Christine V Malicdan Fayeza S Malik Michele Nehrebecky Joun Park Paul Pemberton Katherine Schaffer Dimitre Simeonov Murat Sincan Damian Smedley Zaheer Valivullah Colleen Wahl Nicole Washington Lynne A Wolfe Karen Xu Yi Zhu William A Gahl Cynthia J Tifft Camillo Toro David R Adams Miao He Peter N Robinson Melissa A Haendel R Grace Zhai Cornelius F Boerkoel

Front Med (Lausanne) 2017 26;4:62. Epub 2017 May 26.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.

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May 2017

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Authors:
Hemakumar M Reddy Kyung-Ah Cho Monkol Lek Elicia Estrella Elise Valkanas Michael D Jones Satomi Mitsuhashi Basil T Darras Anthony A Amato Hart Gw Lidov Catherine A Brownstein David M Margulies Timothy W Yu Mustafa A Salih Louis M Kunkel Daniel G MacArthur Peter B Kang

J Hum Genet 2017 Feb 6;62(2):243-252. Epub 2016 Oct 6.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

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February 2017

Phenotypic evolution of UNC80 loss of function.

Authors:
Elise Valkanas Katherine Schaffer Christopher Dunham Valerie Maduro Christèle du Souich Rosemarie Rupps David R Adams Alireza Baradaran-Heravi Elise Flynn May C Malicdan William A Gahl Camilo Toro Cornelius F Boerkoel

Am J Med Genet A 2016 12 11;170(12):3106-3114. Epub 2016 Aug 11.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

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December 2016

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Authors:
Elizabeth M J Lee Karen Xu Emma Mosbrook Amanda Links Jessica Guzman David R Adams Elise Flynn Elise Valkanas Camillo Toro Cynthia J Tifft Cornelius F Boerkoel William A Gahl Murat Sincan

Genet Med 2016 12 2;18(12):1303-1307. Epub 2016 Jun 2.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

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December 2016

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Authors:
William P Bone Nicole L Washington Orion J Buske David R Adams Joie Davis David Draper Elise D Flynn Marta Girdea Rena Godfrey Gretchen Golas Catherine Groden Julius Jacobsen Sebastian Köhler Elizabeth M J Lee Amanda E Links Thomas C Markello Christopher J Mungall Michele Nehrebecky Peter N Robinson Murat Sincan Ariane G Soldatos Cynthia J Tifft Camilo Toro Heather Trang Elise Valkanas Nicole Vasilevsky Colleen Wahl Lynne A Wolfe Cornelius F Boerkoel Michael Brudno Melissa A Haendel William A Gahl Damian Smedley

Genet Med 2016 06 12;18(6):608-17. Epub 2015 Nov 12.

Skarnes Faculty group, Wellcome Trust Sanger Institute, Hinxton, UK.

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June 2016

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:
Shannon Marchegiani Taylor Davis Federico Tessadori Gijs van Haaften Francesco Brancati Alexander Hoischen Haigen Huang Elise Valkanas Barbara Pusey Denny Schanze Hanka Venselaar Anneke T Vulto-van Silfhout Lynne A Wolfe Cynthia J Tifft Patricia M Zerfas Giovanna Zambruno Ariana Kariminejad Farahnaz Sabbagh-Kermani Janice Lee Maria G Tsokos Chyi-Chia R Lee Victor Ferraz Eduarda Morgana da Silva Cathy A Stevens Nathalie Roche Oliver Bartsch Peter Farndon Eva Bermejo-Sanchez Brian P Brooks Valerie Maduro Bruno Dallapiccola Feliciano J Ramos Hon-Yin Brian Chung Cédric Le Caignec Fabiana Martins Witold K Jacyk Laura Mazzanti Han G Brunner Jeroen Bakkers Shuo Lin May Christine V Malicdan Cornelius F Boerkoel William A Gahl Bert B A de Vries Mieke M van Haelst Martin Zenker Thomas C Markello

Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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July 2015