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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
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2. Full Text Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
by Tatton-Brown, Katrina and Seal, Sheila and Ruark, Elise and Harmer, Jenny and Ramsay, Emma and Del Vecchio Duarte, Silvana and Zachariou, Anna and Hanks, Sandra and O'Brien, Eleanor and Aksglaede, Lise and Baralle, Diana and Dabir, Tabib and Gener, Blanca and Goudie, David and Homfray, Tessa and Kumar, Ajith and Pilz, Daniela T and Selicorni, Angelo and Temple, I Karen and Van Maldergem, Lionel and Yachelevich, Naomi and Van Montfort, Robert and Rahman, Nazneen and Childhood Overgrowth Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 385 - 388
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Models, Molecular | Molecular Sequence Data | United Kingdom | DNA (Cytosine-5-)-Methyltransferases - chemistry | Mutation - genetics | Sequence Analysis, DNA | Syndrome | Intellectual Disability - genetics | DNA (Cytosine-5-)-Methyltransferases - metabolism | DNA (Cytosine-5-)-Methyltransferases - genetics | Exome - genetics | Base Sequence | Protein Conformation | Gene Components | Histones - metabolism | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Gene mutations | Identification and classification | Methods | Exome sequencing | DNA methylation | Medical research | Mutation | Mental retardation | Genes | Index Medicus
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3. Full Text Pathogenicity and selective constraint on variation near splice sites
by Lord, Jenny and Lord, Jenny and Gallone, Giuseppe and Gallone, Giuseppe and Short, Patrick J and Short, Patrick J and McRae, Jeremy F and McRae, Jeremy F and Ironfield, Holly and Ironfield, Holly and Wynn, Elizabeth H and Wynn, Elizabeth H and Gerety, Sebastian S and Gerety, Sebastian S and He, Liu and He, Liu and Kerr, Bronwyn and Kerr, Bronwyn and Johnson, Diana S and Johnson, Diana S and McCann, Emma and Kinning, Esther and Flinter, Frances and Flinter, Frances and Temple, I. Karen and Temple, I Karen and Clayton-Smith, Jill and Clayton-Smith, Jill and McEntagart, Meriel and McEntagart, Meriel and Lynch, Sally Ann and Joss, Shelagh and Douzgou, Sofia and Dabir, Tabib and Dabir, Tabib and Clowes, Virginia and Clowes, Virginia and McConnell, Vivienne P.M and McConnell, Vivienne P M and Lam, Wayne and Lam, Wayne and Wright, Caroline F and FitzPatrick, David R and FitzPatrick, David R and Firth, Helen V and Firth, Helen V and Barrett, Jeffrey C and Barrett, Jeffrey C and Hurles, Matthew E and Hurles, Matthew E and Deciphering Developmental Disord and Deciphering Developmental Disorders Study and on behalf of the Deciphering Developmental Disorders study
Genome research, ISSN 1088-9051, 02/2019, Volume 29, Issue 2, pp. 159 - 170
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Pathogenicity | mRNA | Mutation | Splicing | Index Medicus | Research
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4. Full Text Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
by Jeffries, Aaron R and Maroofian, Reza and Salter, Claire G and Chioza, Barry A and Cross, Harold E and Patton, Michael A and Dempster, Emma and Temple, I. Karen and Mackay, Deborah J. G and Rezwan, Faisal I and Aksglaede, Lise and Baralle, Diana and Dabir, Tabib and Hunter, Matthew F and Kamath, Arveen and Kumar, Ajith and Newbury-Ecob, Ruth and Selicorni, Angelo and Springer, Amanda and Van Maldergem, Lionel and Varghese, Vinod and Yachelevich, Naomi and Tatton-Brown, Katrina and Mill, Jonathan and Crosby, Andrew H and Baple, Emma L
Genome research, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1057 - 1066
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Morphogenesis - genetics | Epigenesis, Genetic | Face - abnormalities | Humans | Male | Syndrome | Intellectual Disability - genetics | Young Adult | Amish - genetics | DNA (Cytosine-5-)-Methyltransferases - genetics | DNA Methylation | Aging - genetics | Methyltransferases | Adolescent | Hematologic Diseases - genetics | Adult | Mutation | Vestibular Diseases - genetics | Growth Disorders - genetics | Child | Abnormalities, Multiple - genetics | Leukemia, Myeloid, Acute - genetics | Morphogenesis | Phenotypes | Congenital defects | DNA methylation | Aging | Epigenetics | Histone methyltransferase | DNA methyltransferase | Genomes | Malignancy | Deoxyribonucleic acid--DNA | Index Medicus | Research
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5. Full Text Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
by Beauregard-Lacroix, Eliane and Pacheco-Cuellar, Guillermo and Ajeawung, Norbert F and Tardif, Jessica and Dieterich, Klaus and Dabir, Tabib and Vind-Kezunovic, Dina and White, Susan M and Zadori, Denes and Castiglioni, Claudia and Tranebjærg, Lisbeth and Tørring, Pernille Mathiesen and Blair, Ed and Wisniewska, Marzena and Camurri, Maria Vittoria and van Bever, Yolande and Molidperee, Sirinart and Taylor, Juliet and Dionne-Laporte, Alexandre and Sisodiya, Sanjay M and Hennekam, Raoul C M and Campeau, Philippe M
Genetics in medicine, ISSN 1098-3600, 09/2020, Volume 23, Issue 1, pp. 237 - 237
Index Medicus
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6. Full Text Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication
by Evans, D. Gareth and Edwards, Maria and Duffy, Stephen W and Adlard, Julian and Ahmed, Munaza and Barwell, Julian and Brady, Angela and Brennan, Paul and Brewer, Carole and Cook, Jacqueline and Dabir, Tabib and Davidson, Rosemarie and Donaldson, Alan and George, Angela and Goudie, David and Greenhalgh, Lynn and Halliday, Dorothy and Hanson, Helen and Harrison, Rachel and Kulkarni, Anju and Lalloo, Fiona and Ong, Kai ren and Miedzybrodzka, Zosia and Murray, Alex and Porteous, Mary and Side, Lucy and Snape, Katie and Tischkowitz, Marc and Canc Genetics Grp Clinical Leads and Cancer Genetics Group clinical leads
British journal of cancer, ISSN 0007-0920, 02/2020, Volume 122, Issue 3, pp. 329 - 332
Life Sciences & Biomedicine | Oncology | Science & Technology | Index Medicus | Brief Communication | Health services | Health policy
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7. Full Text NAA10 polyadenylation signal variants cause syndromic microphthalmia
by Johnston, Jennifer J and Williamson, Kathleen A and Chou, Christopher M and Sapp, Julie C and Ansari, Morad and Chapman, Heather M and Cooper, David N and Dabir, Tabib and Dudley, Jeffrey N and Holt, Richard J and Ragge, Nicola K and Schäffer, Alejandro A and Sen, Shurjo K and Slavotinek, Anne M and Fitzpatrick, David R and Glaser, Thomas M and Stewart, Fiona and Black, Graeme C.M and Biesecker, Leslie G
Journal of medical genetics, ISSN 0022-2593, 2019, Volume 56, Issue 7, pp. 444 - 452
Naa10 | polyadenylation signal | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Genomics | N-Acetyltransferase | mRNA | Genomes | Gene expression | Males | Genetic screening | Databases | Genetic analysis | Polyadenylation | Genetics | Acetyltransferase | Mutation | Anophthalmia | Deoxyribonucleic acid--DNA | Microphthalmia | Linkage analysis | Index Medicus
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8. Full Text DOORS syndrome and a recurrent truncating ATP6V1B2 variant
by Beauregard-Lacroix, Eliane and Pacheco-Cuellar, Guillermo and Ajeawung, Norbert F and Tardif, Jessica and Dieterich, Klaus and Dabir, Tabib and Vind-Kezunovic, Dina and White, Susan M and Zadori, Denes and Castiglioni, Claudia and Tranebjærg, Lisbeth and Tørring, Pernille Mathiesen and Blair, Ed and Wisniewska, Marzena and Camurri, Maria Vittoria and van Bever, Yolande and Molidperee, Sirinart and Taylor, Juliet and Dionne-Laporte, Alexane and Sisodiya, Sanjay M and Hennekam, Raoul C. M and Campeau, Philippe M
Genetics in medicine, ISSN 1098-3600, 2020, Volume 23, Issue 1, pp. 149 - 154
Intellectual disabilities | Index Medicus
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9. Full Text Further delineation of the KAT6B molecular and phenotypic spectrum
by Gannon, Tamsin and Perveen, Rahat and Schlecht, Helene and Ramsden, Simon and Anderson, Beverley and Kerr, Bronwyn and Day, Ruth and Banka, Siddharth and Suri, Mohnish and Berland, Siren and Gabbett, Michael and Ma, Alan and Lyonnet, Stan and Cormier-Daire, Valerie and Yilmaz, Ruestem and Borck, Guntram and Wieczorek, Dagmar and Anderlid, Britt-Marie and Smithson, Sarah and Vogt, Julie and Moore-Barton, Heather and Simsek-Kiper, Pelin Ozlem and Maystadt, Isabelle and Destree, Anne and Bucher, Jessica and Angle, Brad and Mohammed, Shehla and Wakeling, Emma and Price, Sue and Singer, Amihood and Sznajer, Yves and Toutain, Annick and Haye, Damien and Newbury-Ecob, Ruth and Fradin, Melanie and McGaughran, Julie and Tuysuz, Beyhan and Tein, Mark and Bouman, Katelijne and Dabir, Tabib and Van den Ende, Jenneke and Luk, Ho Ming and Pilz, Daniela T and Eason, Jacqueline and Davies, Sally and Reardon, Willie and Garavelli, Livia and Zuffardi, Orsetta and Devriendt, Koen and Armstrong, Ruth and DDD Study and DDD study
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics | Medicin och hälsovetenskap
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10. Full Text Identification and functional analysis of a novel oculocerebrorenal syndrome of lowe (Ocrl) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract
by Shalaby, Ahmed K and Emery-Billcliff, Peter and Baralle, Diana and Baralle, Diana and Dabir, Tabib and Dabir, Tabib and Begum, Shahiba and Begum, Shahiba and Waller, Sarah and Tabernero, Lydia and Lowe, Martin and Lowe, Martin and Self, James and Self, James
Molecular vision, ISSN 1090-0535, 2018, Volume 24, pp. 847 - 852
Biochemistry & Molecular Biology | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Oculocerebrorenal Syndrome - genetics | Oculocerebrorenal Syndrome - pathology | Humans | Cataract - pathology | Male | rab GTP-Binding Proteins - genetics | Protein Interaction Domains and Motifs | Binding Sites | Child | rab GTP-Binding Proteins - metabolism | Protein Conformation, alpha-Helical | Gene Expression | Phosphoric Monoester Hydrolases - genetics | Cataract - metabolism | Protein Folding | Hemizygote | Point Mutation | Phenotype | Protein Conformation, beta-Strand | Cataract - congenital | Pedigree | Oculocerebrorenal Syndrome - metabolism | Protein Binding | Cataract - genetics | rab GTP-Binding Proteins - chemistry | Phosphoric Monoester Hydrolases - metabolism | Amino Acid Substitution | Phosphoric Monoester Hydrolases - chemistry | Index Medicus
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11. Full Text Phenotypic delineation of a 12q21 deletion syndrome
by McKenna, Caoimhe S and Saxena, Nivedita and Dabir, Tabib A and Jones, June and Smith, Geoff and Morrison, Patrick J
Clinical dysmorphology, ISSN 0962-8827, 10/2019, Volume 28, Issue 4, pp. 198 - 201
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Phenotype | Comparative Genomic Hybridization | Humans | Alleles | Chromosome Disorders - diagnosis | Infant | Male | Chromosomes, Human, Pair 12 | Genetic Markers | Chromosome Disorders - genetics | Syndrome | Index Medicus
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