Joss Shelagh

Joss Shelagh

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Joss Shelagh

Joss Shelagh

Publications by authors named "Joss Shelagh"

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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.

Proc Natl Acad Sci U S A 2019 Jul 11;116(30):14961-14970. Epub 2019 Jul 11.

Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1900065116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660750PMC
July 2019

Transcriptome: from laboratory to clinic room.

Arch Dis Child Educ Pract Ed 2019 Jun 1;104(3):163-165. Epub 2019 Feb 1.

Department of Clinical Genetics, Royal Hospital for Children, Glasgow, UK.

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http://ep.bmj.com/lookup/doi/10.1136/archdischild-2017-31389
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http://dx.doi.org/10.1136/archdischild-2017-313890DOI Listing
June 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Pediatrics 2018 04;141(Suppl 5):S485-S490

Department of Pediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1542/peds.2017-0026DOI Listing
April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

J Allergy Clin Immunol 2016 Mar 10;137(3):955-7.e8. Epub 2015 Nov 10.

Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; School of Dentistry, University of Leeds, Leeds, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775071PMC
March 2016

How to use… microarray comparative genomic hybridisation to investigate developmental disorders.

Arch Dis Child Educ Pract Ed 2015 Feb 4;100(1):24-9. Epub 2014 Sep 4.

West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK.

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http://dx.doi.org/10.1136/archdischild-2014-306022DOI Listing
February 2015

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

J Hum Genet 2014 Jun 20;59(6):300-6. Epub 2014 Mar 20.

1] Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden [2] Department of Medical and Clinical Genetics, Sahlgrenska Academy, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden [3] Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.

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http://dx.doi.org/10.1038/jhg.2014.21DOI Listing
June 2014

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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http://dx.doi.org/10.1111/j.1399-0004.2012.01876.xDOI Listing
February 2013

The face of Ulnar Mammary syndrome?

Eur J Med Genet 2011 May-Jun;54(3):301-5. Epub 2011 Jan 1.

Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100015
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http://dx.doi.org/10.1016/j.ejmg.2010.12.010DOI Listing
September 2011

Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?

Clin Dysmorphol 2011 Apr;20(2):89-91

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283428f60DOI Listing
April 2011

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

Clin Dysmorphol 2010 Jan;19(1):35-7

St. James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328333c20aDOI Listing
January 2010

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Eur J Pediatr 2008 Mar 3;167(3):341-5. Epub 2007 May 3.

Yorkshire Regional Genetics Service, St James University Hospital, Ashley Wing, Beckett Street, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1007/s00431-007-0468-1DOI Listing
March 2008

Nasopharyngeal teratoma associated with a complex congenital cardiac anomaly.

Clin Dysmorphol 2007 Apr;16(2):113-4

Paediatrics Department, Airedale General Hospital, West Yorkshire, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328054c547DOI Listing
April 2007

A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

Clin Dysmorphol 2002 Oct;11(4):271-5

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK.

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October 2002