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1. Full Text Filling in the gaps in cranial suture biology: two new loci for premature fusion of the cranial sutures in humans suggest a common endpoint in osteoblast regulation, linking upregulation of phosphorylated ERK1/2 and TWIST1 haploinsufficiency.(NEWS AND VIEWS)
by FitzPatrick, David R
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, p. 231
Craniosynostoses | Phosphorylation | Causes of | Physiological aspects | Genetic aspects | Research | Genetic regulation | Osteoblasts | Human genetics
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2. Full Text Criminal Law
by Fitzpatrick, David R
Roger Williams University Law Review, ISSN 1090-3968, 06/2018, Volume 23, Issue 3, p. 660
Surveys | Criminal law
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3. Full Text Criminal Law
by Fitzpatrick, David R
Roger Williams University Law Review, ISSN 1090-3968, 06/2018, Volume 23, Issue 3, p. 660
Surveys | Criminal law
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4. Full Text Resequencing at scale in neurodevelopmental disorders
by Fitzpatrick, David R
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 488 - 489
An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either... 
DISABILITY | AUTISM | MUTATIONS | SPECTRUM | GENES | GENETICS & HEREDITY | Autism Spectrum Disorder - genetics | Developmental Disabilities - genetics | Humans | Intellectual Disability - genetics | Central nervous system diseases | Genotype | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing | Studies | Genomes | Mutation | Genes | Bias | Cost control
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5. Full Text Paediatric genomics: diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 325
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6. Full Text Paediatric genomics: diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 253
Rare diseases | Care and treatment | Molecular diagnostic techniques | Innovations | Genetic aspects | Diagnosis | Children | Diseases
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7. Full Text Erratum: Paediatric genomics: diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 325 - 325
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8. Full Text The genetic architecture of microphthalmia, anophthalmia and coloboma
by Williamson, Kathleen A and FitzPatrick, David R
European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 57, Issue 8, pp. 369 - 380
Abstract Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent a continuum of structural developmental eye defects. In severe... 
Medical Education | SOX2 | Developmental eye defects | eye genes | Coloboma | OTX2 | Anophthalmia | Mutation | Microphthalmia | Eye genes | OPTIC-NERVE | MATTHEW-WOOD-SYNDROME | DIAPHRAGMATIC-HERNIA | AUTOSOMAL RECESSIVE MICROPHTHALMIA | DEVELOPMENTAL ANOMALIES | GENETICS & HEREDITY | PHENOTYPICALLY NORMAL MOTHER | SOX2 MUTATION | PITUITARY-HORMONE DEFICIENCY | HYPOGONADOTROPIC HYPOGONADISM | OCULAR COLOBOMA | Microphthalmos - genetics | Humans | Alleles | Coloboma - genetics | Anophthalmos - genetics | Genetic research | Bone morphogenetic proteins
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9. Full Text Genetic and epigenetic approaches to understanding the basis of human developmental anomalies
by FitzPatrick, David R
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S16 - S16
Internal Medicine
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10. Full Text Cornelia de Lange syndrome
by FitzPatrick, David R
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S21 - S21
Internal Medicine
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11. Full Text Paediatric genomics: Diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 253 - 268
The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with... 
ONSET CONDITIONS | INCIDENTAL FINDINGS | COST-EFFECTIVENESS | ONLINE MENDELIAN INHERITANCE | ARRAY-CGH | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | VARIANT | GENETIC RISK SCORE | CLINICAL EXOME | Disease | Genomics | Genetic diversity | Children | Diagnosis | Medical diagnosis | Population genetics
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12. Full Text Filling in the gaps in cranial suture biology
by Fitzpatrick, David R
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 231 - 232
Two new loci for premature fusion of the cranial sutures in humans suggest a common endpoint in osteoblast regulation, linking upregulation of phosphorylated... 
POINT MUTATION | GENE | ROLES | GENETICS & HEREDITY | SAETHRE-CHOTZEN SYNDROME | GROWTH-FACTOR RECEPTOR-2 | CROUZON-SYNDROME | CRANIOSYNOSTOSIS | TWIST | Basic Helix-Loop-Helix Transcription Factors - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Craniosynostoses - genetics | Humans | Cranial Sutures - metabolism | Repressor Proteins - genetics | Mutation | Repressor Proteins - metabolism | Cranial Sutures - pathology | Craniosynostoses - metabolism | Proteins | Genetics | Kinases
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13. Full Text Variant detection sensitivity and biases in whole genome and exome sequencing
by Meynert, Alison M and Ansari, Morad and FitzPatrick, David R and Taylor, Martin S
BMC Bioinformatics, ISSN 1471-2105, 07/2014, Volume 15, Issue 1, pp. 247 - 247
Background: Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations.... 
Protein-coding genes | Sensitivity | Next-generation sequencing | SNP | Whole genome sequencing | Exome sequencing | ACCURATE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | DATA SETS | Exome - genetics | Humans | Alleles | Polymorphism, Single Nucleotide - genetics | Genomics - methods | Open Reading Frames - genetics | Sequence Analysis, DNA - methods | Genome, Human - genetics | Genetic aspects | Single nucleotide polymorphisms | Comparative analysis | Genes | Genotype & phenotype | Genetics | Genomes | Genomics | Cancer | Economics | Proteins | Mutations | Coding | Variability | Polymorphism | Gene sequencing
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14. Full Text Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects
by FitzPatrick, David R
Trends in Genetics, ISSN 0168-9525, 2005, Volume 21, Issue 5, pp. 249 - 253
Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent... 
CHROMOSOME | ORIGIN | TS1CJE | ABNORMALITIES | DOWN-SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | PHENOTYPES | EXPRESSION | BRAIN | Trisomy | Down Syndrome - metabolism | Humans | Chromosome Aberrations | Down Syndrome - genetics | Gene Expression Regulation | Abnormalities, Multiple | Transcription, Genetic | Gene Dosage
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15. Full Text Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
by Wright, Caroline F, Dr and Fitzgerald, Tomas W, MS and Jones, Wendy D, MBBS and Clayton, Stephen, MRes and McRae, Jeremy F, PhD and van Kogelenberg, Margriet, PhD and King, Daniel A, MD and Ambridge, Kirsty, BSc and Barrett, Daniel M, BSc and Bayzetinova, Tanya, BSc and Bevan, A Paul, PhD and Bragin, Eugene, MSc and Chatzimichali, Eleni A, PhD and Gribble, Susan, PhD and Jones, Philip, MSc and Krishnappa, Netravathi, MSc and Mason, Laura E, BSc and Miller, Ray, PhD and Morley, Katherine I, PhD and Parthiban, Vijaya, PhD and Prigmore, Elena, PhD and Rajan, Diana, MSc and Sifrim, Alejandro, PhD and Swaminathan, G Jawahar, PhD and Tivey, Adrian R, MSc and Middleton, Anna, PhD and Parker, Michael, Prof and Carter, Nigel P, PhD and Barrett, Jeffrey C, PhD and Hurles, Matthew E, PhD and FitzPatrick, David R, Prof and Firth, Helen V, DM and DDD Study and DDD study
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Summary Background Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting... 
Internal Medicine | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | EXOME | MEDICINE, GENERAL & INTERNAL | VARIANTS | SEQUENCE | UNIPARENTAL DISOMY | MUTATIONS | Humans | Child, Preschool | Incidental Findings | Infant | Male | Developmental Disabilities - genetics | Genome, Human - genetics | Information Dissemination | Specimen Handling | Phenotype | Adolescent | Female | Heterozygote | Genetic Variation - genetics | Genome-Wide Association Study - methods | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Medical research | Analysis | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Mutation | Medical diagnosis | Genes | Developmental disabilities
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16. Full Text Paediatric genomics: diagnosing rare disease in children
by Wright, Caroline F and FitzPatrick, David R and Firth, Helen V
Nature reviews. Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 325
This corrects the article DOI: 10.1038/nrg.2017.116. 
Medical diagnosis | Children
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17. Full Text Anophthalmia and microphthalmia
by Verma, Amit S and FitzPatrick, David R
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2007, Volume 2, Issue 1, pp. 47 - 47
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence... 
EYE | MEDICINE, RESEARCH & EXPERIMENTAL | DEFECTS | MALFORMATIONS | GENE | CLINICAL ANOPHTHALMOS | SOX2 CAUSE ANOPHTHALMIA | DESCRIPTIVE EPIDEMIOLOGY | GENETICS & HEREDITY | MUTATIONS | CHROMOSOME 14Q32 | PRENATAL-DIAGNOSIS | Prevalence | Microphthalmos - genetics | Humans | Vitamin A Deficiency - complications | Transcription Factors - genetics | Microphthalmos - epidemiology | Anophthalmos - genetics | Magnetic Resonance Imaging | HMGB Proteins - genetics | Microphthalmos - embryology | Anophthalmos - embryology | Anophthalmos - pathology | Mutation | SOXB1 Transcription Factors | Anophthalmos - epidemiology | Causes of | Care and treatment | Prognosis | Microphthalmos | Diagnosis | Anophthalmos
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18. Full Text The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
by Kohler, S and Doelken, S.C and Mungall, C.J and Bauer, S and Firth, H.V and Bailleul-Forestier, I and Black, G.C.M and Brown, D.L and Brudno, M and Campbell, J and FitzPatrick, D.R and Eppig, J.T and Jackson, A.P and Freson, K and Girdea, M and Helbig, I and Hurst, J.A and Jahn, J and Jackson, L.G and Kelly, A.M and Ledbetter, D.H and Mansour, S and Martin, C.L and Moss, C and Mumford, A and Ouwehand, W.H and Park, S.M and Riggs, E.R and Scott, R.H and Sisodiya, S and Vooren, S. van der and Wapner, R.J and Wilkie, A.O and Wright, C.F and Silfhout, A.T. van and Leeuw, N. de and Vries, B. de and Washingthon, N.L and Smith, C.L and Westerfield, M and Schofield, P and Ruef, B.J and Gkoutos, G.V and Haendel, M and Smedley, D and Lewis, S.E and Robinson, P.N
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 1, pp. D966 - 74
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of... 
GENE DISCOVERY | EVOLUTION | INTEGRATION | INTERNATIONAL STANDARDS | BIOCHEMISTRY & MOLECULAR BIOLOGY | INFORMATICS | SEARCHES | MEDICINE | Phenotype | Animals | Biological Ontologies | Genomics | Humans | Genetic Diseases, Inborn - genetics | Mice | Internet | Genetic Diseases, Inborn - diagnosis | Databases, Factual | VI. Genomic variation, diseases and drugs
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