Skip to Main Content

Author Details

Charu Deshpande
Guy's Hospital
2006
59
26
PMIDPaper TitleJournal TitlePublished Year
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
37166351Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Hum Mol Genet2023
35202563Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.Am J Hum Genet2022
35488810Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.Am J Med Genet C Semin Med Genet2022
35914810Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.Life Sci Alliance2022
35321494Biallelic variants in <i>TAMM41</i> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.HGG Adv2022
32631816<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes.J Med Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34732400Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ2021
34161705Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.N Engl J Med2021
33244165De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Genet Med2021
33449170Making sense of missense variants in TTN-related congenital myopathies.Acta Neuropathol2021
31481360Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.Arch Dis Child2020
32506065Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.Horm Res Paediatr2020
31527857Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.Eur J Hum Genet2020
31130378A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.Neuromuscul Disord2019
31363758Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.Hum Mol Genet2019
29096039Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.Prenat Diagn2018
29940663PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.Neuropediatrics2018
29861108De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.Am J Hum Genet2018
29383814Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.Am J Med Genet A2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
29181510Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.JAMA Neurol2018
29331171The genotypic and phenotypic spectrum of MTO1 deficiency.Mol Genet Metab2018
27696117Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.J Inherit Metab Dis2017
28129423Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Invest Ophthalmol Vis Sci2017
28100473Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literature.J Med Genet2017
28346496Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.PLoS Genet2017
29178640Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.Mol Genet Genomic Med2017
29075935Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.Neurogenetics2017
29220674ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.Am J Hum Genet2017
28859103MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.PLoS Genet2017
28053047Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Hum Mol Genet2017
27912046Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.Am J Hum Genet2016
27667800Clinical and genetic aspects of KBG syndrome.Am J Med Genet A2016
27693233Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.Am J Hum Genet2016
25564561The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.J Med Genet2015
26437029Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nat Genet2015
26510951LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain2015
25728776Mutations in the NHEJ component XRCC4 cause primordial dwarfism.Am J Hum Genet2015
25460580Lack of prolidase causes a bone phenotype both in human and in mouse.Bone2015
25568292Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.Neurology2015
24381304Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Hum Mol Genet2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24599544Mutations in the human UBR1 gene and the associated phenotypic spectrum.Hum Mutat2014
24334290Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.Brain2014
23320472MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.Clin Genet2013
24073655Homozygous variegate porphyria presenting with developmental and language delay in childhood.Clin Exp Dermatol2013
222908563p interstitial deletion: novel case report and review.J Child Neurol2012
22795537De novo mutations in MLL cause Wiedemann-Steiner syndrome.Am J Hum Genet2012
  • 1 - 50 of 59

Recommended Authors

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari
Career Start Year 2013
Number of shared co-authors 21
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 2011
Number of shared co-authors 14
Ospedale Pediatrico Bambino Gesu IRCCS
Career Start Year 2009
Number of shared co-authors 19
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Career Start Year 2009
Number of shared co-authors 19
Baylor College of Medicine
Career Start Year 2008
Number of shared co-authors 36
University of Virginia
Career Start Year 2008
Number of shared co-authors 13
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 34
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 3
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 21
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 9
Hamad Medical Corporation.
Career Start Year 2005
Number of shared co-authors 20
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 33
Nationwide Children's Hospital, The Ohio State University College of Medicine
Career Start Year 2003
Number of shared co-authors 12
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 19
University of British Columbia
Career Start Year 1997
Number of shared co-authors 18
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 25
Charite Universitaetsmedizin Berlin
Career Start Year 1996
Number of shared co-authors 18
Clinical Genetics Deaprtment
Career Start Year 1996
Number of shared co-authors 35
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 34
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 62
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 29
Institute of Medical and Molecular Genetics
Career Start Year 1993
Number of shared co-authors 19
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 12
Cincinnati Children's Hospital Medical Center
Career Start Year 1993
Number of shared co-authors 42
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 25
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 1990
Number of shared co-authors 30
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 20
College of Medicine and Health Sciences, United Arab Emirates University
Career Start Year 1988
Number of shared co-authors 32
University of British Columbia
Career Start Year 1987
Number of shared co-authors 24
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Career Start Year 1981
Number of shared co-authors 33

Collaborators

Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 14
Newcastle University
Co-authored papers 13
Research Institute of Molecular Pathology
Co-authored papers 11
King's College London
Co-authored papers 10
Institute of Human Development, University of Manchester
Co-authored papers 9
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 7
School of Clinical Medicine, University of Cambridge
Co-authored papers 5
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 5
Alder Hey Children's NHS Foundation Trust
Co-authored papers 5
University of Manchester
Co-authored papers 4
Radboud University Medical Center
Co-authored papers 4
NIHR Oxford Biomedical Research Centre
Co-authored papers 4
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 4
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 4
UCL Great Ormond Street Institute of Child Health
Co-authored papers 3
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
Co-authored papers 3
Haukeland University Hospital
Co-authored papers 3
University Children's Hospital, Paracelsus Medical University
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 3
Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital
Co-authored papers 3
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 3
Evelina London Children's Hospital
Co-authored papers 3
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 3
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 3
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Maastricht University Medical Centre
Co-authored papers 3
Guy's and St Thomas' Hospital
Co-authored papers 3