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Author Details

Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
1992
86
37
PMIDPaper TitleJournal TitlePublished Year
36791574The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.Pediatr Neurol2023
38040034Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.Brain2023
37256937PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Sci Transl Med2023
37433783Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nat Commun2023
34590781Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.Am J Med Genet A2022
36135330Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.Am J Med Genet A2022
33227433Growth charts in Cockayne syndrome type 1 and type 2.Eur J Med Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
33799280Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.Stem Cell Res2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
31130376Recessive MYH7-related myopathy in two families.Neuromuscul Disord2019
31646703Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.Hum Mutat2019
30201961Correction: Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2019
29323665Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2018
30104120Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].Epilepsy Res2018
30323018Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome.J Med Genet2018
29669177Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.J Bone Miner Res2018
29576327Parental mosaicism in RYR1-related Central Core Disease.Neuromuscul Disord2018
29409041The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.J Clin Endocrinol Metab2018
29367179Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.Epilepsy Res2018
27659767Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.J Am Soc Nephrol2017
28447407Wiedemann-Rautenstrauch syndrome: A phenotype analysis.Am J Med Genet A2017
28151491Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Genet Med2017
28886345RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.Am J Hum Genet2017
28855261Detection of structural mosaicism from targeted and whole-genome sequencing data.Genome Res2017
28748650Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Am J Med Genet A2017
28521875Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).Metabolism2017
27841880The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nat Genet2017
27075345Advances in Genetic Testing for Hereditary Cancer Syndromes.Recent Results Cancer Res2016
27382027An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.Sci Signal2016
26917586EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Brain2016
26884178Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Proc Natl Acad Sci U S A2016
26743599A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.J Invest Dermatol2016
24611735Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Clin Genet2015
26079862De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.Am J Med Genet A2015
25894741Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability.Appl Health Econ Health Policy2015
25893599Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.J Clin Invest2015
25424711Further delineation of the KAT6B molecular and phenotypic spectrum.Eur J Hum Genet2015
23838600Clinical utility gene card for: Vici Syndrome.Eur J Hum Genet2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24795849A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.PeerJ2014
24403048Loss-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 Genet2014
23320472MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.Clin Genet2013
23628358Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.Neuromuscul Disord2013
23387462Use of dermal filler to improve exposure keratopathy in a patient with restrictive dermopathy.Orbit2013
23222957Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Nat Genet2013
23354439Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Nat Genet2013
22126750How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.Eur J Hum Genet2012
22832103Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Cell Rep2012
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Collaborators

Institute of Human Development, University of Manchester
Co-authored papers 8
University of Manchester
Co-authored papers 7
University College Dublin
Co-authored papers 6
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 6
Maastricht University Medical Centre
Co-authored papers 5
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 5
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 5
St George's University Hospitals NHS Foundation Trust
Co-authored papers 5
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 5
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 5
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 4
NIHR Oxford Biomedical Research Centre
Co-authored papers 4
Institute of Neurology, University College London (UCL)
Co-authored papers 4
Radboud University Medical Center
Co-authored papers 4
Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital
Co-authored papers 4
Belfast City Hospital
Co-authored papers 4
Royal College of Surgeons in Ireland
Co-authored papers 3
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 3
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
Radboud University Medical Center
Co-authored papers 3
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Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 3
Guys and St Thomas' Hospital
Co-authored papers 3
Guy's Hospital
Co-authored papers 3
Guy's and St Thomas' Hospital
Co-authored papers 3
Big Data Institute, University of Oxford
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health
Co-authored papers 3
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
Western General Hospital
Co-authored papers 2
The Johns Hopkins University
Co-authored papers 2