Andrew Read
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Medical geneticist, formerly of the Centre for Genomic Medicine, St Mary's Hospital, Manchester and of the University of Manchester
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Andrew Read's Degrees
- Doctorate Medicine University of Manchester
- PhD Genetics University of Manchester
Why Is Andrew Read Influential?
(Suggest an Edit or Addition)According to Wikipedia, Professor Andrew P. Read is a British medical geneticist. Read studied organic chemistry at the University of Cambridge. Once he had obtained his doctorate, he worked at the Max Planck Institute for Medical Research and at the University of Warwick.
Andrew Read's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets (1995) (1005)
- SOX10 mutations in patients with Waardenburg-Hirschsprung disease (1998) (810)
- Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene (1992) (684)
- Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene (1994) (622)
- FURTHER EXPERIENCE OF VITAMIN SUPPLEMENTATION FOR PREVENTION OF NEURAL TUBE DEFECT RECURRENCES (1983) (508)
- Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis (1999) (467)
- Apparent prevention of neural tube defects by periconceptional vitamin supplementation. (1981) (404)
- POSSIBLE PREVENTION OF NEURAL-TUBE DEFECTS BY PERICONCEPTIONAL VITAMIN SUPPLEMENTATION (1980) (375)
- Human Molecular Genetics 2 (1997) (278)
- Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat (1994) (269)
- Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. (1999) (246)
- SLUG (SNAI2) deletions in patients with Waardenburg disease. (2002) (223)
- GTF2IRD1 in Craniofacial Development of Humans and Mice (2005) (213)
- Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 (1993) (206)
- Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). (1997) (189)
- An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. (1998) (186)
- Identification of mutations in CUL7 in 3-M syndrome (2005) (169)
- Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. (1995) (162)
- Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. (1997) (157)
- A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1 (1994) (157)
- Elastin: mutational spectrum in supravalvular aortic stenosis (2000) (153)
- LIM–kinase deleted in Williams syndrome (1996) (145)
- Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. (1995) (143)
- Germline mutation of ARF in a melanoma kindred. (2002) (136)
- Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. (1990) (122)
- Allelic imbalance on chromosome 3p in oral dysplastic lesions: an early event in oral carcinogenesis. (1996) (118)
- A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (1999) (108)
- The role of cathepsin C in Papillon‐Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis (2004) (108)
- Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. (1988) (104)
- Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity. (1994) (99)
- Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome (2003) (96)
- Mutations in PAX1 may be associated with Klippel–Feil syndrome (2003) (96)
- The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. (1991) (92)
- Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome) (1998) (90)
- Genes IV (1990) (88)
- Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages (1999) (77)
- Waardenburg syndrome. (1997) (76)
- Norrie disease resulting from a gene deletion: clinical features and DNA studies. (1988) (75)
- Deletion mapping defines three discrete areas of allelic imbalance on chromosome arm 8p in oral and oropharyngeal squamous cell carcinomas (1997) (73)
- Consanguinity and complex cardiac anomalies with situs ambiguus. (1984) (70)
- Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities (2011) (66)
- Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas (2002) (64)
- Waardenburg syndrome. (1997) (62)
- Hypomelanosis of Ito (1992) (62)
- Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations (1998) (60)
- DNA studies underestimate the major role of CDKN2A inactivation in oral and oropharyngeal squamous cell carcinomas (1999) (59)
- A complete physical contig and partial transcript map of the Williams syndrome critical region. (1999) (58)
- Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. (2005) (56)
- Bridging markers defining the map position of X linked hypophosphataemic rickets. (1987) (56)
- Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. (1988) (56)
- The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis (2003) (56)
- EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY (1987) (55)
- DIPLOID/TRIPLOID MIXOPLOIDY AND HYPOMELANOSIS OF ITO (1986) (52)
- Monozygotic twinning and Wiedemann-Beckwith syndrome. (1992) (50)
- The Dynamic Genome - Barbara McClintock's Ideas in the Century of Genetics (1993) (49)
- Recurrent neural tube defects, risk factors and vitamins. (1986) (47)
- Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5). (1992) (41)
- VITAMIN SUPPLEMENTATION AND NEURAL TUBE DEFECTS (1981) (41)
- A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome (1999) (38)
- Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms. (2006) (37)
- VITAMIN SUPPLEMENTATION AND NEURAL TUBE DEFECTS (1983) (36)
- Neural tube defect recurrence after 'partial' vitamin supplementation. (1989) (36)
- Neural‐tube defects and vitamins: the need for a randomized clinical trial (1985) (35)
- Pax genes — Paired feet in three camps (1995) (34)
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. (1995) (34)
- Genetic Testing and Common Disorders: How to Assess Relevance and Possibilities (2011) (32)
- Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis (1986) (31)
- The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE) (1996) (29)
- Haemangioma of the cord: further cause of raised maternal serum and liquor alpha-fetoprotein. (1980) (28)
- True telomeric translocation in a baby with the Prader-Willi phenotype. (1993) (28)
- Huntington's disease: testing the test (1993) (28)
- Thalidomide may be a mutagen (1994) (27)
- Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. (1990) (27)
- Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. (1989) (27)
- New DNA markers in the Huntington's disease gene candidate region (1991) (26)
- Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register. (1994) (25)
- CLINIC EXPERIENCE OF PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY USE OF LINKED DNA PROBES (1987) (25)
- Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. (1987) (24)
- Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. (1998) (24)
- A register based system for gene tracking in Duchenne muscular dystrophy. (1986) (22)
- Molecular genetics in the National Health Service in Britain. (1989) (21)
- Is there a genetic basis for Fuchs' heterochromic uveitis? Discordance in monozygotic twins. (1992) (21)
- Stress after amniocentesis for high serum alpha-fetoprotein concentrations. (1980) (20)
- Mapping of the X linked form of hyper IgM syndrome (HIGM1) (1993) (20)
- Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation (2001) (19)
- DNA PROBES IN DIFFERENTIAL DIAGNOSIS OF BECKER MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY (1989) (19)
- Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study (2004) (18)
- 932. Nucleotides. Part XLIX. The reduction of the adduct of periodate-oxidised adenosine-5′ phosphate and methylamine (1965) (18)
- Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1) (1997) (17)
- Amniotic fluid acetylcholinesterase: a retrospective and prospective study of the qualitative method (1982) (16)
- How clinicians add to knowledge of development (2003) (15)
- Assessing Genetic Risks: Implications for Health and Social Policy (1994) (15)
- COMPARISON OF PREGNANCY OUTCOME AFTER AMNIOCENTESIS FOR PREVIOUS NEURAL TUBE DEFECT OR RAISED MATERNAL SERUM ALPHAFETOPROTEIN (1980) (15)
- Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2) (1994) (14)
- New uncertainties in prenatal screening for neural tube defect. (1981) (14)
- Reduced appetite and body mass index with delayed puberty in a mother and son: association with a rare novel sequence variant in the leptin gene. (2011) (14)
- Theory of Population Genetics and Evolutionary Ecology: An Introduction (1981) (13)
- Testing for cystic fibrosis using allelic association. (1989) (13)
- New Clinical Genetics (2010) (13)
- VITAMINS AND NEURAL TUBE DEFECTS (1983) (13)
- X-linked and FSH dystrophies in one family (1991) (12)
- Genetic tests and future need for long-term care in the UK: Report of a work group of the Continuing Care Conference genetic tests and long-term care study group (1999) (12)
- Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? (1990) (11)
- Genetic mapping of complex characters (1999) (11)
- Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II (1995) (10)
- Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981. (2011) (10)
- Patterns of exon deletions in Duchenne and Becker muscular dystrophy (1988) (10)
- Genetics of Common Diseases (1998) (9)
- PAX genes in human developmental anomalies (1994) (9)
- What can be offered to couples at (possibly) increased genetic risk? (2012) (8)
- The genetics of otosclerosis: pedigree studies and linkage analysis. (2007) (7)
- POSSIBLE MATERNAL EFFECT IN GENETIC SUSCEPTIBILITY TO MYASTHENIA GRAVIS (1986) (7)
- FALSE POSITIVE RESULTS WITH THE QUALITATIVE AMNIOTIC FLUID ACETYLCHOLINESTERASE TEST (1981) (7)
- New markers for linkage analysis of X-linked hypophosphataemic rickets (1993) (6)
- DLC1 is unlikely to be a primary target for deletions on chromosome arm 8p22 in head and neck squamous cell carcinoma. (2004) (6)
- Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. (1990) (6)
- Three DNA markers for hypophosphataemic rickets (1992) (6)
- New uncertainties in prenatal screening for neural tube defect. (1981) (6)
- Molecular basis of inherited diseases (1988) (6)
- Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q (6)
- Hereditary deafness: lessons for developmental studies and genetic diagnosis (2000) (5)
- Increased amniotic alphafetoprotein due to a holoacardium amorphous twin (1982) (5)
- Linkage analysis in 16 families with incontinentia pigmenti. (1997) (5)
- Génétique (1982) (4)
- Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) (1992) (4)
- TO JMG Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome (2003) (4)
- Localization of a Gene for Waardenburg Syndrome Type I a (1991) (3)
- Detlev Ganten, Klaus Ruckpaul: Encyclopedic reference of genomics and proteomics in molecular medicine (2007) (3)
- Analysis of Human Genetic Linkage (1992) (3)
- Guidelines and recommendations for testing of Cx26 mutations and interpretation of results. (2004) (3)
- Molecular biology and the ENT surgeon in the millennium (1998) (3)
- Principles of DNA-based prenatal diagnosis of cystic fibrosis: an introduction for the clinician. (1987) (3)
- Prenatal detection of aberrant tissue bands and cord abnormalities (1982) (3)
- Genetic analysis in rheumatoid arthritis. (1986) (3)
- Gene linkage and genetic deafness. (1995) (2)
- Matching for properdin factor B (Bf) in renal transplantation. (1981) (2)
- Inherited eye disease: cause and late effect. (2005) (2)
- LOCALIZATION OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (2)
- Model Organisms, Comparative Genomics, and Evolution (2018) (2)
- Preimplantation diagnosis with the polymerase chain reaction. (1989) (2)
- Stewart Scherer: A short guide to the human genome (2009) (2)
- Co-inheritance of two rare genodermatoses (Papillon Lefevre syndrome and Oculocutaneous Albinism Type 1) in two families (2004) (2)
- Beckwith-Wiedemann syndrome. (1992) (2)
- Costs and benefits of serum alpha-fetoprotein screening. (1978) (2)
- Fetus with unbalanced translocation involving chromosomes 2 and 11 (1992) (2)
- Cloning for gold. (1997) (2)
- Reply to “Mutations of PAX3 unlikely in Waardenburg syndrome type 2” (1993) (2)
- VITAMIN SUPPLEMENTS AND NEURAL TUBE DEFECTS (1982) (2)
- Guidelines and recommendations for testing of CX26 mutations and interpretation of results (2004) (1)
- The Mammalian Y Chromosome: Molecular Search for the Sex-Determining Factor (1988) (1)
- DECLINING INCIDENCE OF NEURAL TUBE DEFECTS (1981) (1)
- Genetics of auditory and vestibular disorders (2003) (1)
- Pharmacogenetics, Personalized Medicine, and Population Screening (2018) (1)
- Constitutional delay of growth and puberty (CDGP)is associated with the GPR54 gene but not with Leptin (L), Leptin Receptor (LR) and Cocaine and Amphetamin Regulated Transcript (CART) genes (2005) (1)
- An overview of human genetic variation (2018) (1)
- A BanI RFLP at a deletion hotspot in the human dystrophin gene. (1990) (1)
- Human Mating Patterns (1989) (1)
- 3 NEW DNA MARKERS FOR HYPOPHOSPHATEMIC RICKETS, AND POSSIBLE LOCUS HETEROGENEITY (1991) (1)
- The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics (1994) (1)
- Genetic Manipulation of Animals for Modeling Disease and Investigating Gene Function (2018) (1)
- Telegenetics (1996) (1)
- Nucleotides. XLIX. The reduction of the adduct of periodate-oxidised adenosine-5' phosphate and methylamine. (1965) (1)
- The Human Genome—Structure and Organization (2014) (1)
- Applied Human Genetics (2008) (1)
- Treatment of genetic diseases Edited by Robert J. Desnick. Published 1991 by Churchill Livingstone, Edinburgh. ISBN 0 443 08773 3, 350 pp. Price £50 (1992) (1)
- Molecular Biology of Homo Sapiens (1988) (0)
- Commentary on the question of genotype-phenotype correlations in genetic hearing impairment (2004) (0)
- 112 Waardenburg Syndrome (1998) (0)
- Principles of genetic manipulation of mammalian cells (2018) (0)
- DNA studies underestimate the role of CDKN2A in oral squamous cell carcinoma (OSCC) (1999) (0)
- Complex disease: identifying susceptibility factors and understanding pathogenesis (2018) (0)
- What a rheumatologist should know about genetics. (1988) (0)
- David Bainbridge (Editor), The X in sex: how the X chromosome controls our lives (2003) (0)
- Annual Review of Genetics (1992) (0)
- Ethical Issues in Conducting Genetic Research: Commentary (2010) (0)
- Detection of a Novel Mutation in the Leptin Gene in a Boy with Delayed Puberty and An Abnormality of the Hypothalamic-Pituitary-Adrenal Axis (2003) (0)
- Ethical Issues in Conducting Genetic Research (2010) (0)
- Analogies and homologies - genetic control of the nervous system in man and lower organisms (1999) (0)
- A new microsatellite marker closely linked to the hypophosphataemic rickets locus (1992) (0)
- Veterinary Genetics (1988) (0)
- Correspondence (1989) (0)
- Studying Gene Function in the Post-Genome Era (2018) (0)
- Read's Recall: Shuffling abstracts - and foundations (2017) (0)
- Analysis of the FHIT gene expression in oral sequences cell carcinoma. (1997) (0)
- Seventh International Congress of Human Genetics. Update on the X chromosome (1987) (0)
- X linked orautosomal recessive? A newapproach to anoldproblem (1989) (0)
- Annual Review of Genetics (1984) (0)
- Olympic freak show? (1997) (0)
- LOCALIZATION OF THE X-LINKED HYPOPHOSPHATEMIC RICKETS GENE (1986) (0)
- Molecular pathology: connecting phenotypes to genotypes (2018) (0)
- 5. Chromosomal localisation of DNA probes for the hypophosphataemic rickets gene (1991) (0)
- Allelic imbalance and microsatellite instability on chromosome 3p in premalignant lesons of the oral mucosa (1995) (0)
- Fundamentals of cells and chromosomes (2018) (0)
- Analyzing the structure and expression of genes and genomes (2018) (0)
- National Coordination of Molecular Genetic Services (1991) (0)
- Basic principles of nucleic acid structure and gene expression (2018) (0)
- Self-Assessment in Medical Genetics (1987) (0)
- The Harvey Lectures Series 78 (1982-1983) (1985) (0)
- LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE (1986) (0)
- Fundamentals of cell–cell interactions and immune system biology (2018) (0)
- Gene regulation and the epigenome (2018) (0)
- Genetics: By Ursula Goodenough. 2nd Edition. Philadelphia, London and Toronto: W. B. Saunders, 1978, pp. 840, price £7.50 (1980) (0)
- A survey of neural tube defect pregnancies in north-west England. (1988) (0)
- Genetic testing in healthcare and the law (2018) (0)
- Molecular genetics intheNational HealthService inBritain (1989) (0)
- The Harvey Lectures (1987) (0)
- Book reviews (1990) (0)
- What can be offered to couples at (possibly) increased genetic risk? (2012) (0)
- Patterns of inheritance (2018) (0)
- Spina bifida and vitamins (1982) (0)
- Medical Genetics: An Illustrated Outline (1989) (0)
- P2. Screening of an oncogenic hypophosphataemic osteomalacia (OHO) tumour cDNA library with YAC clones from a contig encompassing the HYP gene (1994) (0)
- Model organisms and modeling disease (2018) (0)
- Health Service in Britain . Molecular genetics in the National (0)
- polycystic kidney disease ? second locus for adult heterogeneity : is there a Recombination or and (0)
- Comments on important genetic topics from papers in other journals (1992) (0)
- Human evolution (2018) (0)
- Annual Review of Genetics (1992) (0)
- Risk Analysis (1985) (0)
- Genetic approaches to treating disease (2018) (0)
- Core DNA technologies: amplifying DNA, nucleic acid hybridization, and DNA sequencing (2018) (0)
- Medicine and books: Genetics of Common Diseases (1998) (0)
- Textbook of Human Genetics (1989) (0)
- Advances in Human Genetics (1994) (0)
- Our place in the tree of life (1999) (0)
- Speicher, Antonarakis, Motulsky (eds): Vogel and Motulsky’s human genetics, 4th edn (2010) (0)
- New uncertainties in prenatal screening for neural tube defect. (1981) (0)
- MAPPING OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (0)
- FURTHER LOCALIZATION OF THE GENE FOR X-LINKED HYPOPHOSPHATEMIA (1987) (0)
- Chromosomes in cells (1999) (0)
- Mutations in Cullin 7, a cofactor for Ubiquitination, cause the 3M intra-uterine growth retardation syndrome (2006) (0)
- Human Genes and Diseases (1987) (0)
- Aspects of early mammalian development, cell differentiation, and stem cells (2018) (0)
- X linked or autosomal recessive? A new approach to an old problem. (1989) (0)
- Annual Review of Genetics (1987) (0)
- Human genetics: methods and results: Methodology in Medical genetics: an introduction to statistical methods by Alan E. H. Emery, Churchill Livingstone, 1986. £24.00 (i + 197 pages) ISBN 0 443 03509 1 (1986) (0)
- Mapping and identifying genes for monogenic disorders (2018) (0)
- John C. Avise: The hope, hype and reality of genetic engineering (2004) (2006) (0)
- Genetics in Medicine 2 . Adult life By (2014) (0)
- Annual Review of Genetics (1989) (0)
- Syndrome of the month Waardenburg syndrome (2004) (0)
- Molecular Basis of Inherited Disease (In Focus Series) (1992) (0)
- Cancer genetics and genomics (2018) (0)
- Spina bifida and vitamins. (1982) (0)
- Genetic Mapping of Disease Genes. Edited by I. H. Pawlowitzki, J. H. Edwards and E. A. Thompson. (1998) (0)
- Uncovering the architecture and workings of the human genome (2018) (0)
- Comparative genomics and genome evolution (2018) (0)
- Alan E. Guttmacher, Francis S. Collins, Jeffrey M. Drazen (eds): Genomic medicine: articles from the New England Journal of Medicine (2004) (0)
- Chromosomal abnormalities and structural variants (2018) (0)
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