Shehla Mohammed

Shehla Mohammed

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Shehla Mohammed

Shehla Mohammed

Publications by authors named "Shehla Mohammed"

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Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 Jun 12;29(6):456-467. Epub 2019 Apr 12.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.04.002DOI Listing
June 2019

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy Res 2018 02 3;140:166-170. Epub 2018 Feb 3.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.01.014DOI Listing
February 2018

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Am J Med Genet A 2017 Sep 27;173(9):2522-2527. Epub 2017 Jul 27.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38342DOI Listing
September 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2017.03.011DOI Listing
June 2017

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

J Am Soc Nephrol 2017 Mar 22;28(3):963-970. Epub 2016 Sep 22.

Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health.

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http://dx.doi.org/10.1681/ASN.2015091029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328148PMC
March 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Advances in Genetic Testing for Hereditary Cancer Syndromes.

Recent Results Cancer Res 2016 ;205:1-15

Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/978-3-319-29998-3_1DOI Listing
July 2016

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Sci Signal 2016 07 5;9(435):ra68. Epub 2016 Jul 5.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London SE1 1UL, UK. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 9RX, UK.

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http://dx.doi.org/10.1126/scisignal.aad9813DOI Listing
July 2016

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

J Invest Dermatol 2016 Apr 29;136(4):869-872. Epub 2015 Dec 29.

National Xeroderma Pigmentosum Service, Department of Photodermatology, St. John's Institute of Dermatology, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.12.031DOI Listing
April 2016

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Clinical utility gene card for: Vici Syndrome.

Eur J Hum Genet 2014 Mar 10;22(3). Epub 2013 Jul 10.

1] Randall Division for Cell and Molecular Biophysics, King's College, London, UK [2] Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, UK [3] Clinical Neuroscience Division, IoP, King's College, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925270PMC
March 2014

Use of dermal filler to improve exposure keratopathy in a patient with restrictive dermopathy.

Orbit 2013 Feb;32(1):70-2

Ophthalmology Department, St Thomas's Hospital, London, UK.

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http://dx.doi.org/10.3109/01676830.2012.747213DOI Listing
February 2013

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

J Med Genet 2011 Aug 23;48(8):535-9. Epub 2011 Mar 23.

Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.087593DOI Listing
August 2011

An Evaluation of the Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping System.

J Assoc Genet Technol 2008 ;34(4):177-87

Cytogenetics Department, Guy's Hospital, Great Maze Pond, London.

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July 2011

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Monozygotic twins discordant for frontonasal malformation.

Am J Med Genet A 2004 Nov;130A(4):384-8

Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30280DOI Listing
November 2004

Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

Clin Dysmorphol 2004 Jul;13(3):187-9

Department Medical and Molecular Genetics, The Guy's, King's and St Thomas' Hospitals School of Medicine, King's College London, UK.

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July 2004

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Clin Dysmorphol 2004 Jan;13(1):25-7

Department of Medical and Molecular Genetics, The Guy's, King's and St Thomas' Hospitals School of Medicine, King's College London, UK.

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January 2004

Microdeletion 22q11.2, Kousseff syndrome and spina bifida.

Clin Dysmorphol 2002 Apr;11(2):113-5

The Division of Medical and Molecular Genetics, The Guy's, King's and St Thomas' School of Medicine and Dentistry, London, UK.

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http://pdfs.journals.lww.com/clindysmorphol/2002/04000/Micro
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April 2002