Skip to Main Content

Author Details

Dragana Josifova
Guy's and St Thomas' Hospital
2000
38
22
PMIDPaper TitleJournal TitlePublished Year
37541188Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.Am J Hum Genet2023
36333305Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.Nat Commun2022
35616428Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.Am J Med Genet A2022
34353785Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.AJNR Am J Neuroradiol2021
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
32112654Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.Hum Mutat2020
31721432The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.Am J Med Genet C Semin Med Genet2019
29275331Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanisms.J Biol Chem2018
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
28944244Inherited 2q23.1 microdeletions involving the <i>MBD5</i> locus.Mol Genet Genomic Med2017
28944233Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>.Mol Genet Genomic Med2017
28684328Genetics of gynaecological disorders.Best Pract Res Clin Obstet Gynaecol2017
27073233Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.J Med Genet2016
26443808Brown-Vialetto-Van Laere syndrome: a 28-year follow-up.J Neurol Neurosurg Psychiatry2016
27648933Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.Am J Med Genet A2016
27005418Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.Hum Mol Genet2016
25533639Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.Br J Dermatol2015
259080553p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.Am J Med Genet A2015
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
23222957Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Nat Genet2013
23526466Structural pituitary abnormalities associated with CHARGE syndrome.J Clin Endocrinol Metab2013
23518311Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.Neuromuscul Disord2013
22045651Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.Hum Mutat2012
21725307A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.Nat Genet2011
22000314Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.Pediatr Neurol2011
19811520White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.Dev Med Child Neurol2010
20179744Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Eur J Hum Genet2010
20206331Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.Am J Hum Genet2010
20234391Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.Eur J Hum Genet2010
19606471Nicolaides-Baraitser syndrome: Delineation of the phenotype.Am J Med Genet A2009
18478590Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.Am J Med Genet A2008
17598220Gene symbol: ALMS1.Hum Genet2007
17632510Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.Nat Genet2007
16688752A constitutional telomeric translocation showing meiotic instability.Am J Med Genet A2006
15194950Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.Clin Dysmorphol2004
11167859Treatment of leg ulcers with platelet-derived wound healing factor (PDWHFS) in a patient with beta thalassaemia intermedia.Br J Haematol2001
10679946Fifteen new mutations (-195C&gt;T, L-12X, 298-2A&gt;G, T117N, A159T, R229S, 997+2T&gt;A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.Hum Mutat2000
  • 1 - 38 of 38

Recommended Authors

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari
Career Start Year 2013
Number of shared co-authors 14
University of Virginia
Career Start Year 2008
Number of shared co-authors 7
Azienda USL-IRCCS di Reggio Emilia
Career Start Year 2008
Number of shared co-authors 4
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 3
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 6
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 10
Hopital Universitaire de Nantes
Career Start Year 2005
Number of shared co-authors 9
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 10
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 17
King Faisal Specialist Hospital and Research Center
Career Start Year 2001
Number of shared co-authors 51
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 13
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 21
University of British Columbia
Career Start Year 1997
Number of shared co-authors 10
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 10
Clinical Genetics Deaprtment
Career Start Year 1996
Number of shared co-authors 21
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 36
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 21
Charite Universitaetsmedizin Berlin
Career Start Year 1996
Number of shared co-authors 15
Institute of Medical and Molecular Genetics
Career Start Year 1993
Number of shared co-authors 16
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 10
Cincinnati Children's Hospital Medical Center
Career Start Year 1993
Number of shared co-authors 23
Phoenix Children's Hospital
Career Start Year 1992
Number of shared co-authors 7
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 12
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 1990
Number of shared co-authors 15
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 9
Istanbul University-Cerrahpasa
Career Start Year 1989
Number of shared co-authors 19
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 51
University of Siena
Career Start Year 1984
Number of shared co-authors 21
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 4
Children's Hospital of Philadelphia
Career Start Year 1972
Number of shared co-authors 35

Collaborators

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 5
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 3
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 3
University of Cambridge
Co-authored papers 3
Institute of Human Development, University of Manchester
Co-authored papers 3
Guy's and St Thomas' NHS Foundation Trust
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
Guy's Hospital
Co-authored papers 3
University of Cambridge
Co-authored papers 3
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 2
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 2
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Great Ormond Street Hospital
Co-authored papers 2
University of Cambridge
Co-authored papers 2
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 2
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Institute of Ophthalmology, University College London
Co-authored papers 2
St George's University Hospitals NHS Foundation Trust
Co-authored papers 2
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 2
Guys and St Thomas' Hospital
Co-authored papers 2
University College Dublin
Co-authored papers 2
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 2
Co-authored papers 2
King's College London
Co-authored papers 2