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1. Full Text Molecular findings from 537 individuals with inherited retinal disease
by Ellingford, Jamie M and Barton, Stephanie and Bhaskar, Sanjeev and O'Sullivan, James and Williams, Simon G and Lamb, Janine A and Panda, Binay and Sergouniotis, Panagiotis I and Gillespie, Rachel L and Daiger, Stephen P and Hall, Georgina and Gale, Theodora and Lloyd, I Christopher and Bishop, Paul N and Ramsden, Simon C and Black, Graeme C M
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 761 - 767
BackgroundInherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing... 
GENETICS & HEREDITY | FRAMEWORK | DISORDERS | MUTATIONS | DNA-SEQUENCING DATA | RETINITIS-PIGMENTOSA | CONGENITAL AMAUROSIS | DIAGNOSTIC YIELD | DYSTROPHIES | DISCOVERY | DEGENERATION | Care and treatment | Genetic disorders | Research | Risk factors | Mutation (Biology) | Molecular genetics | next-generation sequencing | inherited retinal dystrophy | bioinformatics | retinitis pigmentosa | 1506 | Genotype-Phenotype Correlations
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2. Full Text Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
by O'Sullivan, James and Bitu, Carolina C and Daly, Sarah B and Urquhart, Jill E and Barron, Martin J and Bhaskar, Sanjeev S and Martelli-Júnior, Hercilio and dos Santos Neto, Pedro Eleuterio and Mansilla, Maria A and Murray, Jeffrey C and Coletta, Ricardo D and Black, Graeme C.M and Dixon, Michael J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 616 - 620
Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal... 
PROTEIN | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | FAMILY | Exons | Humans | Gene Expression Regulation | Dental Enamel Proteins - genetics | Amelogenesis Imperfecta - genetics | Genetic Heterogeneity | Syndrome | Ameloblasts - metabolism | Homozygote | Chromosomes, Human, Pair 17 | Pedigree | Gingival Hyperplasia - pathology | Polymorphism, Single Nucleotide | Amelogenesis Imperfecta - pathology | Mutation | Genetic research | Genetic aspects | Research | Gene mutations | Amelogenesis imperfecta | Hyperplasia | Congenital diseases | Enamel | Teeth | Genomes | Gene expression | Polymorphism | Index Medicus | Report
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3. Full Text Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
by Smith, Miriam J and O'Sullivan, James and Bhaskar, Sanjeev S and Hadfield, Kristen D and Poke, Gemma and Caird, John and Sharif, Saba and Eccles, Diana and Fitzpatrick, David and Rawluk, Daniel and Du Plessis, Daniel and Newman, William G and Evans, D. Gareth
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 295 - 298
One-third of all primary central nervous system tumors in adults are meningiomas(1). Rarely, meningiomas occur at multiple sites, usually occurring in... 
CANCER-CELLS | SCHWANNOMAS | FAMILIAL MULTIPLE | COFFIN-SIRIS SYNDROME | COMPLEXES | GENETICS & HEREDITY | BAF57 | IDENTIFICATION | NF2 GENE | EXPRESSION | CARCINOMA | Chromosome Deletion | Meningeal Neoplasms - genetics | Chromosomal Proteins, Non-Histone - metabolism | Humans | Middle Aged | Molecular Sequence Data | Male | Meningioma - genetics | Neurofibromatosis 2 - genetics | DNA-Binding Proteins - genetics | Loss of Heterozygosity | Chromosomal Proteins, Non-Histone - genetics | DNA-Binding Proteins - metabolism | Meningioma - pathology | Base Sequence | Adolescent | Adult | Female | Neurofibromatosis 2 - metabolism | Polymorphism, Single Nucleotide | Meningeal Neoplasms - pathology | Mutation | Gene mutations | Genetic susceptibility | Physiological aspects | Development and progression | Genetic aspects | Research | Meningioma | Studies | Medical research | Biomedical research | Womens health | Lymphocytes | Histology | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
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4. Full Text Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
by Hanson, Dan and Murray, Philip G and O'Sullivan, James and Urquhart, Jill and Daly, Sarah and Bhaskar, Sanjeev S and Biesecker, Leslie G and Skae, Mars and Smith, Claire and Cole, Trevor and Kirk, Jeremy and Chandler, Kate and Kingston, Helen and Donnai, Dian and Clayton, Peter E and Black, Graeme C.M
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 148 - 153
3-M syndrome, a primordial growth disorder, is associated with mutations in and Exome sequencing now identifies mutations in as a cause of 3-M syndrome. is a... 
OBSCURIN-LIKE-1 | DOMAIN | GENETICS & HEREDITY | P53 | Cell Line | Gene Expression | Muscle Hypotonia - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Infant | Male | Reverse Transcriptase Polymerase Chain Reaction | Intellectual Disability - genetics | Cullin Proteins - genetics | Spine - abnormalities | Dwarfism - genetics | Homozygote | Cullin Proteins - metabolism | Cytoskeletal Proteins - metabolism | Female | Transcription Factors | Mutation | Dwarfism | Care and treatment | Usage | Analysis | Causes of | Genetic aspects | Nucleotide sequencing | Gene expression | Genetic disorders | Mammals | Index Medicus | Report
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5. Full Text Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus
by Mitchell, Karen and O'Sullivan, James and Missero, Caterina and Blair, Ed and Richardson, Rose and Anderson, Beverley and Antonini, Dario and Murray, Jeffrey C and Shanske, Alan L and Schutte, Brian C and Romano, Rose-Anne and Sinha, Satrajit and Bhaskar, Sanjeev S and Black, Graeme C.M and Dixon, Michael J and Dixon, Jill
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 69 - 75
Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the... 
REPEATED-EPILATION | KERATINOCYTE DIFFERENTIATION | HUMAN GENOME | PROTEIN-KINASE | GENETICS & HEREDITY | IKK-ALPHA | C-ASSOCIATED KINASE | ECTODERMAL DYSPLASIAS | NF-KAPPA-B | EPIDERMAL MORPHOGENESIS | MICE LACKING | Cleft Palate - diagnosis | Skin Abnormalities | Cleft Lip - diagnosis | Exons | Humans | Molecular Sequence Data | Male | Cleft Palate - genetics | Genetic Loci | Phosphoproteins - metabolism | Pterygium - genetics | Exome | Base Sequence | Child | Craniofacial Abnormalities - genetics | Severity of Illness Index | Amino Acid Sequence | Tumor Suppressor Proteins - metabolism | Protein-Serine-Threonine Kinases - genetics | Genes, Recessive | Transcription Factors - metabolism | Cleft Lip - genetics | Animals | Keratinocytes - metabolism | Trans-Activators - metabolism | Consanguinity | Mice | Mutation | Pterygium - congenital | Pterygium - diagnosis | Usage | Research | Genetic transcription | Gene mutations | Exome sequencing | Proteins | Genetic research | Congenital diseases | Genetic disorders | Gene expression | Index Medicus | Report
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6. Full Text Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature
by Rice, Gillian I and Kasher, Paul R and Forte, Gabriella M. A and Mannion, Niamh M and Greenwood, Sam M and Szynkiewicz, Marcin and Dickerson, Jonathan E and Bhaskar, Sanjeev S and Zampini, Massimiliano and Briggs, Tracy A and Jenkinson, Emma M and Bacino, Carlos A and Battini, Roberta and Bertini, Enrico and Brogan, Paul A and Brueton, Louise A and Carpanelli, Marialuisa and De Laet, Corinne and De Lonlay, Pascale and Del Toro, Mireia and Desguerre, Isabelle and Fazzi, Elisa and Garcia-Cazorla, Àngels and Heiberg, Arvid and Kawaguchi, Masakazu and Kumar, Ram and Lin, Jean-Pierre S.-M and Lourenco, Charles M and Male, Alison M and Marques Jr, Wilson and Mignot, Cyril and Olivieri, Ivana and Orcesi, Simona and Prabhakar, Prab and Rasmussen, Magnhild and Robinson, Robert A and Rozenberg, Flore and Schmidt, Johanna L and Steindl, Katharina and Tan, Tiong Y and Van Der Merwe, William G and Vanderver, Adeline and Vassallo, Grace and Wakeling, Emma L and Wassmer, Evangeline and Whittaker, Elizabeth and Livingston, John H and Lebon, Pierre and Suzuki, Tamio and McLaughlin, Paul J and Keegan, Liam P and O'Connell, Mary A and Lovell, Simon C and Crow, Yanick J
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially... 
DYSCHROMATOSIS SYMMETRICA HEREDITARIA | ADENOSINE-DEAMINASE | RNA | TREX1 | GENETICS & HEREDITY | IMMUNODEFICIENCY-VIRUS TYPE-1 | INNATE IMMUNE-RESPONSE | INFECTION | HUMAN TRANSCRIPTOME | SAMHD1 | AUTOIMMUNE-DISEASE | Gene Expression | Signal Transduction | Adenosine Deaminase - genetics | Humans | Structure-Activity Relationship | RNA-Binding Proteins | Sequence Analysis, DNA | Exome | Animals | Autoimmune Diseases of the Nervous System - genetics | RNA, Double-Stranded - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Protein Conformation | Mice | RNA, Double-Stranded - metabolism | Mutation | Nervous System Malformations - genetics | Alu Elements - genetics | Gene mutations | Aicardi syndrome | Physiological aspects | Genetic aspects | Interferon | Adenosine deaminase | Research | Health aspects | Risk factors | Proteins | Medical research | Genetics | Index Medicus
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7. Full Text Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
by Ghosh, Arunabha and Schlecht, Helene and Heptinstall, Lesley E and Bassett, John K and Cartwright, Eleanor and Bhaskar, Sanjeev S and Urquhart, Jill and Broomfield, Alexander and Morris, Andrew AM and Jameson, Elisabeth and Schwahn, Bernd C and Walter, John H and Douzgou, Sofia and Murphy, Helen and Hendriksz, Chris and Sharma, Reena and Wilcox, Gisela and Crushell, Ellen and Monavari, Ardeshir A and Martin, Richard and Doolan, Anne and Senniappan, Senthil and Ramsden, Simon C and Jones, Simon A and Banka, Siddharth
Archives of Disease in Childhood, ISSN 0003-9888, 11/2017, Volume 102, Issue 11, pp. 1019 - 1029
BackgroundInborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging... 
Inborn Errors of Metabolism | Metabolic disorders | Next Generation Sequencing | EXOME | GENE PANEL | CONGENITAL DISORDERS | HYPOGLYCEMIA | PEDIATRICS | MITOCHONDRIAL DISORDERS | DEVELOPMENTAL DELAY | REDUCTASE DEFICIENCY | GLYCOSYLATION | IDENTIFICATION | WHOLE GENOME | Young Adult | Metabolism, Inborn Errors - diagnosis | Humans | Adolescent | Child, Preschool | Female | Infant | Male | High-Throughput Nucleotide Sequencing - methods | Child | Metabolism, Inborn Errors - genetics | Metabolism, Inborn errors of | Usage | Gene mutations | Nucleotide sequencing | Research | Diagnosis | DNA sequencing | Urine | Genetic disorders | Inborn errors of metabolism | Genomics | Genes | Genomes | Hypoglycemia | Metabolism | Medical screening | Medical diagnosis | Genetic screening | Custom design | Accuracy | Clinical medicine | Children | Mutation | Index Medicus | Abridged Index Medicus
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8. Full Text A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
by O'Sullivan, James and Mullaney, Brendan G and Bhaskar, Sanjeev S and Dickerson, Jonathan E and Hall, Georgina and O'Grady, Anna and Webster, Andrew and Ramsden, Simon C and Black, Graeme C
Journal of Medical Genetics, ISSN 0022-2593, 05/2012, Volume 49, Issue 5, pp. 322 - 326
ObjectivesCurrent technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing... 
GENE | CITY | BIRMINGHAM | MUTATION | GENETICS & HEREDITY | RECESSIVE RETINITIS-PIGMENTOSA | BARDET-BIEDL-SYNDROME | USH2A | RPGR | Molecular Diagnostic Techniques - methods | Humans | Retinitis Pigmentosa - genetics | Male | Genes, Recessive | Usher Syndromes - diagnosis | Retinitis Pigmentosa - diagnosis | Usher Syndromes - genetics | Delivery of Health Care | Pedigree | Sensitivity and Specificity | Female | Polymorphism, Single Nucleotide | Retrospective Studies | Mutation | Sequence Analysis, DNA - methods | Usage | Nucleotide sequencing | Research | Gene mutations | Gene expression | DNA sequencing | Index Medicus
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9. Full Text Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
by Ellingford, Jamie M, MRes and Sergouniotis, Panagiotis I, PhD and Lennon, Rachel, PhD and Bhaskar, Sanjeev, MSc and Williams, Simon G, PhD and Hillman, Kate A, PhD and O'Sullivan, James, BSc and Hall, Georgina, MSc and Ramsden, Simon C, PhD and Lloyd, I Christopher, Prof and Woolf, Adrian S, Prof and Black, Graeme C M, Prof
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9980, pp. 1916 - 1916
  More than 20 genes have been linked with infantile-onset retinal dystrophy.1 In 2012, testing of multiple genes in parallel became possible in the NHS... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | DISEASE | Kidney Diseases, Cystic - diagnosis | Optic Atrophies, Hereditary - genetics | Follow-Up Studies | Humans | Ciliopathies | Eye Diseases, Hereditary - diagnosis | Infant | Male | Leber Congenital Amaurosis - genetics | Eye Diseases, Hereditary - genetics | Exome | Retinal Dystrophies - diagnosis | Kidney Diseases, Cystic - genetics | Female | Leber Congenital Amaurosis - diagnosis | High-Throughput Nucleotide Sequencing - methods | Optic Atrophies, Hereditary - diagnosis | Early Diagnosis | Retinal Dystrophies - genetics | Sequence Analysis, DNA - methods | United Kingdom | Care and treatment | Hospitals | Patients | Proteins | Biomedical research | Mutation | Genetic testing | Medical diagnosis | Medical disorders | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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10. Full Text Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
by Wieczorek, Dagmar and Newman, William G and Wieland, Thomas and Berulava, Tea and Kaffe, Maria and Falkenstein, Daniela and Beetz, Christian and Graf, Elisabeth and Schwarzmayr, Thomas and Douzgou, Sofia and Clayton-Smith, Jill and Daly, Sarah B and Williams, Simon G and Bhaskar, Sanjeev S and Urquhart, Jill E and Anderson, Beverley and O’Sullivan, James and Boute, Odile and Gundlach, Jasmin and Czeschik, Johanna Christina and van Essen, Anthonie J and Hazan, Filiz and Park, Sarah and Hing, Anne and Kuechler, Alma and Lohmann, Dietmar R and Ludwig, Kerstin U and Mangold, Elisabeth and Steenpaß, Laura and Zeschnigk, Michael and Lemke, Johannes R and Lourenco, Charles Marques and Hehr, Ute and Prott, Eva-Christina and Waldenberger, Melanie and Böhmer, Anne C and Horsthemke, Bernhard and O’Keefe, Raymond T and Meitinger, Thomas and Burn, John and Lüdecke, Hermann-Josef and Strom, Tim M
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 698 - 707
Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial... 
COMPLEX | PROTEIN | NONSYNDROMIC CLEFT-LIP | OTO-FACIAL DYSPLASIA | CHOANAL ATRESIA | GENETICS & HEREDITY | PALATE | INHERITANCE | HAPLOINSUFFICIENCY | SNRNP | Deafness - genetics | Oligonucleotide Array Sequence Analysis | Spliceosomes - genetics | Humans | Child, Preschool | Ribonucleoprotein, U5 Small Nuclear - metabolism | Exosomes - genetics | Male | Gene Expression Profiling | Promoter Regions, Genetic - genetics | Ribonucleoprotein, U5 Small Nuclear - genetics | Heart Defects, Congenital - genetics | Spliceosomes - metabolism | Choanal Atresia - diagnosis | Gene Deletion | Facies | Female | Genes, Reporter | Choanal Atresia - genetics | Gene Frequency | Sequence Analysis, DNA | Deafness - diagnosis | Homozygote | Phenotype | Pedigree | Alleles | Heart Defects, Congenital - diagnosis | Heterozygote | Mutation | Deafness - congenital | Causes of | Genetic research | Genetic disorders | Research | Gene mutations | Proteins | Families & family life | Yeast | Genes | Index Medicus | Report
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11. Full Text Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
by Gillespie, Rachel L., MSc and O’Sullivan, James, BSc and Ashworth, Jane, FRCOphth and Bhaskar, Sanjeev, MSc and Williams, Simon, PhD and Biswas, Susmito, FRCOphth and Kehdi, Elias, FRANZCO and Ramsden, Simon C., FRCPath and Clayton-Smith, Jill, FRCP and Black, Graeme C., DPhil, FRCOphth and Lloyd, I. Christopher, FRCOphth
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 11, pp. 2124 - 2137.e2
Purpose To assess the utility of integrating genomic data from next-generation sequencing and phenotypic data to enhance the diagnosis of bilateral congenital... 
Ophthalmology | NUCLEAR CATARACTS | MOLECULAR DIAGNOSIS | CRYSTALLIN GENE | MISSENSE MUTATION | OPHTHALMOLOGY | ZONULAR PULVERULENT CATARACT | PEDIATRIC CATARACT | DELETION MUTATION | STRUCTURAL VARIATION | NONSENSE MUTATION | INFANTILE CATARACT | Genetic Testing | Introns - genetics | Genetic Association Studies | Cataract - diagnosis | Humans | Child, Preschool | Exons - genetics | Infant | Male | DNA - genetics | Cataract - congenital | DNA Mutational Analysis | Pedigree | Adolescent | Cataract - genetics | Female | High-Throughput Nucleotide Sequencing | Eye Proteins - genetics | Mutation | Child | Precision Medicine | Care and treatment | Cataract | Genetic disorders | Hospitals | Diagnosis | Index Medicus
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