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1. Full Text Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
by Lord, Jenny and McMullan, Dominic J and Eberhardt, Ruth Y and Rinck, Gabriele and Hamilton, Susan J and Quinlan-Jones, Elizabeth and Prigmore, Elena and Carey, Georgina K and Mellis, Rhiannon and Robart, Sarah and Berry, Ian R and Chandler, Kate E and Cilliers, Deirdre and Cresswell, Lara and Edwards, Sandra L and Gardiner, Carol and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Lester, Tracy and Newbury-Ecob, Ruth and Prescott, Katrina and Quarrell, Oliver W and Ramsden, Simon C and Roberts, Eileen and Tapon, Dagmar and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Parker, Michael and Williams, Denise and Jenkins, Lucy and Scott, Richard H and Kilby, Mark D and Chitty, Lyn S and Hurles, Matthew E and Maher, Eamonn R and Bateman, Mark and Best, Sunayna K and Campbell, Carolyn and Carey, Georgina and Chitty, Lyn S and Cilliers, Deirdre and Cohen, Kelly and Collingwood, Emma and Constantinou, Panayiotis and Cresswell, Lara and Delmege, Catherine and Edwards, Sandra L and Ellis, Richard and Evans, Jerry and Everett, Thomas and Pinto, Clare F and Forrester, Natalie and Fowler, Emma and Gardiner, Carol and Hamilton, Susan and Healey, Karen and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Hudson, Rebecca and Hurles, Matthew E and Jenkins, Lucy and Keelagher, Rebecca and Kilby, Mark D and Lester, Tracey and Lewis, Rebecca and Lord, Jenny and Maher, Eamonn R and Marton, Tamas and McMullan, Dominic J and Mehta, Sarju and Mellis, Rhiannon and Newbury-Ecob, Ruth and Park, Soo-Mi and Parker, Michael and Prescott, Katrina and Prigmore, Elena and Quarrell, Oliver W and Quinlan-Jones, Elizabeth and Ramsden, Simon C and Rinck, Gabriele and Robart, Sarah and Roberts, Eileen and Rowland, Jayne and Steer, James and Tapon, Dagmar and Taylor, Emma J and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Williams, Denise and Wilson, Elizabeth and Prenatal Assessment of Genomes and Exomes Consortium and Prenatal Assessment Genomes Exomes
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
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2. Full Text SET de novo frameshift variants associated with developmental delay and intellectual disabilities
by Richardson, Ruth and Splitt, Miranda and Newbury-Ecob, Ruth and Hulbert, Alice and Kennedy, Joanna and Weber, Astrid and DDD Study
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1306 - 1311
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Frameshift Mutation | Histone Chaperones - genetics | Humans | Intellectual Disability - pathology | Male | Developmental Disabilities - genetics | Transcription Factors - genetics | Intellectual Disability - genetics | Developmental Disabilities - pathology | Phenotype | Adolescent | Female | Child | Intellectual disabilities | Variegation | Set gene | Index Medicus
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3. Full Text De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
by Hoischen, Alexander and van Bon, Bregje W. M and Roíguez-Santiago, Benjamín and Gilissen, Christian and Vissers, Lisenka E. L. M and de Vries, Petra and Janssen, Irene and van Lier, Bart and Hastings, Rob and Smithson, Sarah F and Newbury-Ecob, Ruth and Kjaergaard, Susanne and Goodship, Judith and McGowan, Ruth and Bartholdi, Deborah and Rauch, Anita and Peippo, Maarit and Cobben, Jan M and Wieczorek, Dagmar and Gillessen-Kaesbach, Gabriele and Veltman, Joris A and Brunner, Han G and de Vries, Bert B. B. A
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 8, pp. 729 - 731
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Craniosynostoses - etiology | Face - abnormalities | Face - pathology | Humans | Intellectual Disability - pathology | Polymorphism, Single Nucleotide - genetics | Repressor Proteins - genetics | Intellectual Disability - etiology | Codon, Nonsense - genetics | Craniosynostoses - pathology | Intellectual Disability - genetics | Genes | Opitz syndrome | Physiological aspects | Genetic aspects | Research | Diagnosis | Suppression, Genetic | Medical research | Genotype & phenotype | Mutation | Experiments | Gaming machines | Cancer | Index Medicus
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4. Full Text PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
by Bownass, Lucy and Abbs, Stephen and Armstrong, Ruth and Baujat, Genevieve and Behzadi, Gry and Berentsen, Ragnhild Drage and Burren, Christine and Calder, Alistair and Cormier‐Daire, Valérie and Newbury‐Ecob, Ruth and Foulds, Nicola and Juliusson, Petur B and Kant, Sarina G and Lefroy, Henrietta and Mehta, Sarju G and Merckoll, Else and Michot, Caroline and Monsell, Fergal and Offiah, Amaka C and Richards, Allan and Rosendahl, Karen and Rustad, Cecilie F and Shears, Deborah and Tveten, Kristian and Wellesley, Diana and Wordsworth, Paul and Smithson, Sarah and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
American journal of medical genetics. Part A, ISSN 1552-4825, 09/2019, Volume 179, Issue 9, pp. 1884 - 1894
platyspondyly | brachyolmia | PAPSS2 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Nucleotide sequencing | DNA sequencing | Vertebrae | Phenotypes | Femur | Pain | Spine | Bone dysplasia | Skeleton | Heredity | Bone (long) | Differential diagnosis | Children | Intervertebral discs | Index Medicus
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5. Full Text Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
by Klopocki, Eva and Schulze, Harald and Strauß, Gabriele and Ott, Claus-Eric and Hall, Judith and Trotier, Fabienne and Fleischhauer, Silke and Greenhalgh, Lynn and Newbury-Ecob, Ruth A and Neumann, Luitgard M and Habenicht, Rolf and König, Rainer and Seemanova, Eva and Megarbane, André and Ropers, Hans-Hilger and Ullmann, Reinhard and Horn, Denise and Mundlos, Stefan
American journal of human genetics, ISSN 0002-9297, 2007, Volume 80, Issue 2, pp. 232 - 240
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Platelet diseases and coagulopathies | Chromosome Deletion | Humans | Middle Aged | Child, Preschool | Infant | Male | Radius - abnormalities | Syndrome | Inheritance Patterns | Thrombocytopenia - genetics | Adolescent | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Child | TAR syndrome | Heredity, Human | Research | Studies | Genetic disorders | Congenital diseases | Chromosomes | Genomics | Index Medicus
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6. Full Text Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
by Weedon, Michael N and Hastings, Robert and Caswell, Richard and Xie, Weijia and Paszkiewicz, Konrad and Antoniadi, Thalia and Williams, Maggie and King, Cath and Greenhalgh, Lynn and Newbury-Ecob, Ruth and Ellard, Sian
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 308 - 312
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Cytoplasmic Dyneins - genetics | Child, Preschool | Exons - genetics | Male | Mutation - genetics | Charcot-Marie-Tooth Disease - genetics | Young Adult | Animals | DNA Mutational Analysis | Pedigree | Axons - pathology | Adult | Female | Mice | Genes, Dominant - genetics | Usage | Charcot-Marie-Tooth disease | Dynein | Causes of | Genetic aspects | Meiosis | Research | Nucleotide sequencing | Structure | Proteins | Mutation | Neurons | Genes | Neurological disorders | Cytoplasm | Index Medicus | Animal models | Neurodegeneration | Muscles | Genomes | Axonal transport | Age | Report
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7. Full Text Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H. Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M.M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E.F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and Fitzpatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium and the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium
Nature genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1060 - 1065
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic variation | Exome sequencing | Development and progression | Congenital heart disease | Genetic aspects | Identification and classification | Health aspects | Methods | Heart | Medical research | Biomedical research | Congenital diseases | Funding | Genes | Genomics | Genomes | RNA polymerase | Kinases | Defects | Autism | Mutation | Index Medicus
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8. Full Text Barth syndrome
by Clarke, Sarah L.N and Bowron, Ann and Gonzalez, Iris L and Groves, Sarah J and Newbury-Ecob, Ruth and Clayton, Nicol and Martin, Robin P and Tsai-Goodman, Beverly and Garratt, Vanessa and Ashworth, Michael and Bowen, Valerie M and McCurdy, Katherine R and Damin, Michaela K and Spencer, Carolyn T and Toth, Matthew J and Kelley, Richard I and Steward, Colin G
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 23 - 23
3-methylglutaconic aciduria | Barth syndrome | Arrhythmia | Dilated cardiomyopathy | Stillbirth | Growth delay | Left ventricular non-compaction | Endocardial fibroelastosis | Myopathy | Neutropenia | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Barth Syndrome - genetics | Barth Syndrome - physiopathology | Humans | Heart Diseases - complications | Male | Barth Syndrome - diagnosis | Barth Syndrome - complications | Pediatrics | Biomedical research | Consent | Mortality | Colleges & universities | Boys | Mutation | Females | Patients | Deoxyribonucleic acid--DNA | Children & youth | Powell, Jay | Index Medicus
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9. Full Text Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
by Albers, C.A and Paul, D.S and Schulze, H and Freson, K and Stephens, J.C and Smethurst, P.A and Jolley, J.D and Cvejic, A and Kostadima, M and Bertone, P and Breuning, M.H and Debili, N and Deloukas, P and Favier, R and Fiedler, J and Hobbs, C.M and Huang, N and Hurles, M.E and Kiddle, G and Krapels, I and Nurden, P and Ruivenkamp, C.A and Sambrook, J.G and Smith, K and Stemple, D.L and Strauss, G and Thys, C and van Geet, C and Newbury-Ecob, R and Ouwehand, W.H and Ghevaert, C
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 9, S1-2
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | RNA-Binding Proteins - genetics | Humans | Child, Preschool | Infant | Male | 5' Untranslated Regions - genetics | Genetic Variation | Thrombocytopenia - genetics | Young Adult | Base Sequence | Adult | Female | Child | Infant, Newborn | Amino Acid Sequence | Genetic Predisposition to Disease | Thrombocytopenia - congenital | Radius - abnormalities | Upper Extremity Deformities, Congenital - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Sequence Alignment | Animals | Platelet Count | Adolescent | Polymorphism, Single Nucleotide | Mutation | Physiological aspects | TAR syndrome | Research | Single nucleotide polymorphisms | RNA | Medical research | Genetics | Genes | Index Medicus
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