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Author Details

Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
2004
60
33
PMIDPaper TitleJournal TitlePublished Year
36411030Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>.J Med Genet2023
37126546Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.Sci Adv2023
37165752POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.Clin Genet2023
35321494Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.HGG Adv2022
35874167<i>SMAD3</i> mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis.Bone Rep2022
36130591An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Am J Hum Genet2022
33106617The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.Genet Med2021
33602402A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK).JACC Clin Electrophysiol2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33029936Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Am J Med Genet A2021
32109419Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Am J Hum Genet2020
29698805Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.Eur J Med Genet2019
31313512PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.Am J Med Genet A2019
31031012Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.Am J Hum Genet2019
30349098The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
30696996Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
29180823HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.Eur J Hum Genet2018
30409806Quantifying the contribution of recessive coding variation to developmental disorders.Science2018
29392890A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Hum Mutat2018
29574422Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.J Med Genet2018
28855261Detection of structural mosaicism from targeted and whole-genome sequencing data.Genome Res2017
28138155Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Nat Genet2017
28151491Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Genet Med2017
28969385Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Brain2017
28942966Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Am J Hum Genet2017
28975157Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier.Neurol Genet2017
27005418Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.Hum Mol Genet2016
27782106A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.Eur J Hum Genet2016
27418539Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly.J Med Genet2016
27571260Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Nat Genet2016
26168268B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.J Clin Invest2015
26235985Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.Am J Hum Genet2015
24161539Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.Biochim Biophys Acta2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
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
223693197q11.23 Microduplication: a recognizable phenotype.Clin Genet2013
23541340Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.Am J Hum Genet2013
23261301Mutations in ECEL1 cause distal arthrogryposis type 5D.Am J Hum Genet2013
22909335Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.Clin Genet2013
22901312MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.Clin Genet2013
22037954Perrault syndrome: further evidence for genetic heterogeneity.J Neurol2012
23188108EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.J Med Genet2012
22771923The spectrum of 4q- syndrome illustrated by a case series.Gene2012
22464254Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.Am J Hum Genet2012
20104244Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.Eur J Hum Genet2010
20583179A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.Am J Med Genet A2010
19500772Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.Am J Hum Genet2009
18260132Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.Am J Med Genet A2008
18925618Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.Prenat Diagn2008
18784092Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.N Engl J Med2008
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Collaborators

Institute of Human Development, University of Manchester
Co-authored papers 9
University College Dublin
Co-authored papers 6
University of Washington
Co-authored papers 5
Radboud University Medical Center
Co-authored papers 5
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 5
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 5
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 5
Wellcome Sanger Institute
Co-authored papers 4
University of Manchester
Co-authored papers 4
St George's University Hospitals NHS Foundation Trust
Co-authored papers 4
Guy's and St Thomas' Hospital
Co-authored papers 3
NIHR Oxford Biomedical Research Centre
Co-authored papers 3
Newcastle University
Co-authored papers 3
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Belfast City Hospital
Co-authored papers 3
Istanbul University
Co-authored papers 3
University of Southampton
Co-authored papers 3
University of Manchester
Co-authored papers 3
Children's Hospital of Philadelphia
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Radboud University Medical Center
Co-authored papers 3
Guy's Hospital
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Maastricht University Medical Centre
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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Western General Hospital
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UCL Great Ormond Street Institute of Child Health, University College London
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Big Data Institute, University of Oxford
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Northwestern University
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Cambridge University Hospital, NHS Foundation Trust
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Cambridge University Hospitals NHS Foundation Trust
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