Nora Shannon

Nora Shannon

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Nora Shannon

Nora Shannon

Publications by authors named "Nora Shannon"

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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Authors:
Adam Jackson Heather Ward Rebecca Louise Bromley Charulata Deshpande Pradeep Vasudevan Ingrid Scurr John Dean Nora Shannon Jonathon Berg Susan Holder Diana Baralle Jill Clayton-Smith

Arch Dis Child 2019 Sep 3. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
September 2019

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Authors:
Cecilia Giunta Matthias Baumann Christine Fauth Uschi Lindert Ebtesam M Abdalla Angela F Brady James Collins Jahannaz Dastgir Sandra Donkervoort Neeti Ghali Diana S Johnson Ariana Kariminejad Johannes Koch Marius Kraenzlin Nayana Lahiri Bernarda Lozic Adnan Y Manzur Jenny E V Morton Jacek Pilch Rebecca C Pollitt Gudrun Schreiber Nora L Shannon Glenda Sobey Anthony Vandersteen Fleur S van Dijk Martina Witsch-Baumgartner Johannes Zschocke F Michael Pope Carsten G Bönnemann Marianne Rohrbach

Genet Med 2018 01 15;20(1):42-54. Epub 2017 Jun 15.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1038/gim.2017.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763155PMC
January 2018

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Authors:
Karen L Stals Matthew Wakeling Júlia Baptista Richard Caswell Andrew Parrish Julia Rankin Carolyn Tysoe Garan Jones Adam C Gunning Hana Lango Allen Lisa Bradley Angela F Brady Helena Carley Jenny Carmichael Bruce Castle Deirdre Cilliers Helen Cox Charu Deshpande Abhijit Dixit Jacqueline Eason Frances Elmslie Andrew E Fry Alan Fryer Muriel Holder Tessa Homfray Emma Kivuva Victoria McKay Ruth Newbury-Ecob Michael Parker Ravi Savarirayan Claire Searle Nora Shannon Deborah Shears Sarah Smithson Ellen Thomas Peter D Turnpenny Vinod Varghese Pradeep Vasudevan Emma Wakeling Emma L Baple Sian Ellard

Prenat Diagn 2018 01 3;38(1):33-43. Epub 2017 Dec 3.

Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.1002/pd.5175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836855PMC
January 2018

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

Authors:
Cori DeSanto Kristin D'Aco Gabriel C Araujo Nora Shannon Hilary Vernon April Rahrig Kristin G Monaghan Zhiyv Niu Patrik Vitazka Jonathan Dodd Sha Tang Linda Manwaring Arelis Martir-Negron Rhonda E Schnur Jane Juusola Audrey Schroeder Vivian Pan Katherine L Helbig Bethany Friedman Marwan Shinawi

J Med Genet 2015 Nov 11;52(11):754-61. Epub 2015 Aug 11.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103069DOI Listing
November 2015

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Authors:
Isabelle Perrault Sophie Saunier Sylvain Hanein Emilie Filhol Albane A Bizet Felicity Collins Mustafa A M Salih Sylvie Gerber Nathalie Delphin Karine Bigot Christophe Orssaud Eduardo Silva Véronique Baudouin Machteld M Oud Nora Shannon Martine Le Merrer Olivier Roche Christine Pietrement Jamal Goumid Clarisse Baumann Christine Bole-Feysot Patrick Nitschke Mohammed Zahrate Philip Beales Heleen H Arts Arnold Munnich Josseline Kaplan Corinne Antignac Valérie Cormier-Daire Jean-Michel Rozet

Am J Hum Genet 2012 May 12;90(5):864-70. Epub 2012 Apr 12.

INSERM U781 & Department of Genetics, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376548PMC
May 2012

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Authors:
Jeroen K J Van Houdt Beata Anna Nowakowska Sérgio B Sousa Barbera D C van Schaik Eve Seuntjens Nelson Avonce Alejandro Sifrim Omar A Abdul-Rahman Marie-José H van den Boogaard Armand Bottani Marco Castori Valérie Cormier-Daire Matthew A Deardorff Isabel Filges Alan Fryer Jean-Pierre Fryns Simone Gana Livia Garavelli Gabriele Gillessen-Kaesbach Bryan D Hall Denise Horn Danny Huylebroeck Jakub Klapecki Malgorzata Krajewska-Walasek Alma Kuechler Matthew A Lines Saskia Maas Kay D Macdermot Shane McKee Alex Magee Stella A de Man Yves Moreau Fanny Morice-Picard Ewa Obersztyn Jacek Pilch Elizabeth Rosser Nora Shannon Irene Stolte-Dijkstra Patrick Van Dijck Catheline Vilain Annick Vogels Emma Wakeling Dagmar Wieczorek Louise Wilson Orsetta Zuffardi Antoine H C van Kampen Koenraad Devriendt Raoul Hennekam Joris Robert Vermeesch

Nat Genet 2012 Feb 26;44(4):445-9, S1. Epub 2012 Feb 26.

Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1038/ng.1105DOI Listing
February 2012

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Authors:
Katie Snape Sandra Hanks Elise Ruark Patricio Barros-Núñez Anna Elliott Anne Murray Andrew H Lane Nora Shannon Patrick Callier David Chitayat Jill Clayton-Smith David R Fitzpatrick David Gisselsson Sebastien Jacquemont Keiko Asakura-Hay Mark A Micale John Tolmie Peter D Turnpenny Michael Wright Jenny Douglas Nazneen Rahman

Nat Genet 2011 Jun 8;43(6):527-9. Epub 2011 May 8.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

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http://www.softgenetics.com/PDF/CEP57paper.pdf
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http://www.nature.com/doifinder/10.1038/ng.822
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http://dx.doi.org/10.1038/ng.822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508359PMC
June 2011

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Authors:
Sérgio B Sousa Omar A Abdul-Rahman Armand Bottani Valérie Cormier-Daire Alan Fryer Gabriele Gillessen-Kaesbach Denise Horn Dragana Josifova Alma Kuechler Melissa Lees Kay MacDermot Alex Magee Fanny Morice-Picard Elizabeth Rosser Ajoy Sarkar Nora Shannon Irene Stolte-Dijkstra Alain Verloes Emma Wakeling Louise Wilson Raoul C M Hennekam

Am J Med Genet A 2009 Aug;149A(8):1628-40

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32956DOI Listing
August 2009

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

Authors:
Pradeep C Vasudevan Sixto Garcia-Minaur Maria Pilar Botella Antonio Perez-Aytes Nora L Shannon Oliver W J Quarrell

Clin Dysmorphol 2005 Jul;14(3):109-16

Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1097/00019605-200507000-00001DOI Listing
July 2005

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Authors:
Sandra Hanks Kim Coleman Sarah Reid Alberto Plaja Helen Firth David Fitzpatrick Alexa Kidd Károly Méhes Richard Nash Nathanial Robin Nora Shannon John Tolmie John Swansbury Alexandre Irrthum Jenny Douglas Nazneen Rahman

Nat Genet 2004 Nov 10;36(11):1159-61. Epub 2004 Oct 10.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1038/ng1449DOI Listing
November 2004