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1. Full Text De novo mutations in regulatory elements in neurodevelopmental disorders
by Short, Patrick J and McRae, Jeremy F and Gallone, Giuseppe and Sifrim, Alejandro and Won, Hyejung and Geschwind, Daniel H and Wright, Caroline F and Firth, Helen V and Fitzpatrick, David R and Barrett, Jeffrey C and Hurles, Matthew E
Nature (London), ISSN 0028-0836, 03/2018, Volume 555, Issue 7698, pp. 611 - 616
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Brain - metabolism | Exome | Humans | Fetus - metabolism | Conserved Sequence | Female | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation | Regulatory Sequences, Nucleic Acid - genetics | Evolution, Molecular | Nervous system | Degeneration | Genetic aspects | Gene mutations | Genetic regulation | Health aspects | Heart | Brain | Disease | Genes | Biological evolution | Genomics | Fetuses | Disorders | Genomes | Regulatory sequences | Neurodevelopmental disorders | Patients | Gene sequencing | Proteins | Autism | Coding | Software | Diagnostic systems | Bioinformatics | Index Medicus
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2. Full Text Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
by Wright, Caroline F and McRae, Jeremy F and Clayton, Stephen and Gallone, Giuseppe and Aitken, Stuart and FitzGerald, Tomas W and Jones, Philip and Prigmore, Elena and Rajan, Diana and Lord, Jenny and Sifrim, Alejandro and Kelsell, Rosemary and Parker, Michael J and Barrett, Jeffrey C and Hurles, Matthew E and FitzPatrick, David R and Firth, Helen V and DDD Study and on behalf of the DDD Study
Genetics in medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1216 - 1223
exome sequencing | recontact | reanalysis | diagnostic yield | reclassification | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genetic Testing | Genomics | Humans | Male | United Kingdom | Developmental Disabilities - genetics | Rare Diseases | Whole Exome Sequencing - methods | Genome, Human - genetics | Exome | Developmental Disabilities - pathology | Female | Developmental Disabilities - diagnosis | Index Medicus
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3. Full Text Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
by Niemi, Mari E. K and Martin, Hilary C and Rice, Daniel L and Gallone, Giuseppe and Gordon, Scott and Kelemen, Martin and McAloney, Kerrie and McRae, Jeremy and Radford, Elizabeth J and Yu, Sui and Gecz, Jozef and Martin, Nicholas G and Wright, Caroline F and Fitzpatrick, David R and Firth, Helen V and Hurles, Matthew E and Barrett, Jeffrey C
Nature (London), ISSN 0028-0836, 10/2018, Volume 562, Issue 7726, pp. 268 - 271
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Autistic Disorder - genetics | Rare Diseases - genetics | Multifactorial Inheritance - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Intelligence - genetics | Birth Weight - genetics | Body Height - genetics | Case-Control Studies | Linkage Disequilibrium | Genetic Variation | Phenotype | Schizophrenia - genetics | Female | Cohort Studies | Genome-wide association studies | Usage | Parent and child | Analysis | Genetic aspects | Children | Mental illness | Health aspects | Risk factors | Haplotypes | Intelligence | Disease | Mental disorders | Parents | Disorders | Schizophrenia | Risk | Nervous system | Genomes | Neurodevelopmental disorders | Proteins | Consortia | Coding | Bioinformatics | Abnormalities | Genetic diversity | Patients | Weight | Educational attainment | Studies | Genetic variance | Autism | Birth weight | Diagnostic systems | Mutation | Index Medicus
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4. Full Text Predicting the clinical impact of human mutation with deep neural networks
by Sundaram, Laksshman and Gao, Hong and Padigepati, Samskruthi Reddy and McRae, Jeremy F and Li, Yanjun and Kosmicki, Jack A and Fritzilas, Nondas and Hakenberg, Jörg and Dutta, Anindita and Shon, John and Xu, Jinbo and Batzloglou, Serafim and Li, Xiaolin and Farh, Kyle Kai-How
Nature genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, pp. 1161 - 1170
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Animals | Humans | Intellectual Disability - pathology | Primates | Mutation | Genome, Human | Nerve Net - physiology | Intellectual Disability - genetics | Research | Gene mutations | Genetic variation | Neural networks | Impact prediction | Disease | Intellectual disabilities | Therapeutic applications | Genes | Benign | Artificial neural networks | Amino acids | Genomes | Genetic diversity | Disease control | Gene sequencing | Consortia | Proteins | Databases | Population | Species | Index Medicus
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5. Full Text Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
by Akawi, Nadia and McRae, Jeremy and Ansari, Morad and Balasubramanian, Meena and Blyth, Moira and Brady, Angela F and Clayton, Stephen and Cole, Trevor and Deshpande, Charu and Fitzgerald, Tomas W and Foulds, Nicola and Francis, Richard and Gabriel, George and Gerety, Sebastian S and Goodship, Judith and Hobson, Emma and Jones, Wendy D and Joss, Shelagh and King, Daniel and Klena, Nikolai and Kumar, Ajith and Lees, Melissa and Lelliott, Chris and Lord, Jenny and McMullan, Dominic and O'Regan, Mary and Osio, Deborah and Piombo, Virginia and Prigmore, Elena and Rajan, Diana and Rosser, Elisabeth and Sifrim, Alejandro and Smith, Audrey and Swaminathan, Ganesh J and Turnpenny, Peter and Whitworth, James and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Lo, Cecilia W and FitzPatrick, David R and Hurles, Matthew E and DDD Study and DDD study and the DDD study
Nature genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1363 - 1369
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Genetic Association Studies - methods | Family Health | Genotype | Male | United Kingdom | Developmental Disabilities - genetics | Developmental Disabilities - classification | Genes, Recessive | Genetic Variation | Exome - genetics | Phenotype | Pedigree | Matrix Metalloproteinases, Secreted - genetics | Cell Cycle Proteins - genetics | Female | Protein-Arginine N-Methyltransferases - genetics | Ubiquitin-Protein Ligases - genetics | Sequence Analysis, DNA - methods | Disease susceptibility | Genetic aspects | Identification and classification | Familial diseases | Risk factors | Datasets | Mutation | Genes | Methods | Index Medicus
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6. 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 on behalf of the DDD study and DDD Study and DDD study
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
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7. Full Text Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
by Kaplanis, Joanna and Akawi, Nadia and Gallone, Giuseppe and McRae, Jeremy F and Prigmore, Elena and Wright, Caroline F and Fitzpatrick, David R and Firth, Helen V and Barrett, Jeffrey C and Hurles, Matthew E and Deciphering Dev Disorders Study and Deciphering Developmental Disorders study and on behalf of the Deciphering Developmental Disorders study
Genome research, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1047 - 1056
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Exome | DNA Mutational Analysis | Humans | Mutation Rate | Developmental Disabilities - genetics | Polymorphism, Single Nucleotide | Mutation | Mutation, Missense | Nucleotides | Child | Pathogenicity | Mutation rates | Divergence | DNA-directed DNA polymerase | Deoxyribonucleic acid--DNA | Index Medicus | Research
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8. Full Text BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
by Dias, Cristina and Estruch, Sara B and Graham, Sarah A and McRae, Jeremy and Sawiak, Stephen J and Hurst, Jane A and Joss, Shelagh K and Holder, Susan E and Morton, Jenny E.V and Turner, Claire and Thevenon, Julien and Mellul, Kelly and Sánchez-Andrade, Gabriela and Ibarra-Soria, Ximena and Deriziotis, Pelagia and Santos, Rui F and Lee, Song-Choon and Faivre, Laurence and Kleefstra, Tjitske and Liu, Pentao and Hurles, Mathew E and Fisher, Simon E and Logan, Darren W and DDD Study
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 253 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Transcription Factors - chemistry | Humans | Transcriptome | Chromatin Assembly and Disassembly - genetics | Male | Neurodevelopmental Disorders - genetics | Cerebral Cortex - metabolism | Mutation, Missense - genetics | Intellectual Disability - genetics | Social Behavior | Carrier Proteins - chemistry | Transcription, Genetic | Nuclear Proteins - genetics | Frameshift Mutation - genetics | Haploinsufficiency - genetics | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Cognition Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Transcription Factors - genetics | Nuclear Proteins - chemistry | Neurodevelopmental Disorders - pathology | Syndrome | Transcription Factors - metabolism | Carrier Proteins - genetics | Hippocampus - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Intellectual Disability - psychology | Mice | Codon, Nonsense - genetics | Genetic aspects | Genetic transcription | Nucleotide sequencing | Mental retardation | Health aspects | Methods | DNA sequencing | Genotype & phenotype | Chromatin | Mutation | Cognition & reasoning | Intellectual disabilities | Neurological disorders | Index Medicus | Life Sciences | Human health and pathology
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