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tcf20 (6) 6
genetics & heredity (5) 5
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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, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | 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 | 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 Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
by Torti, Erin and Keren, Boris and Palmer, Elizabeth E and Zhu, Zehua and Afenjar, Alexandra and Anderson, Ilse. J and Andrews, Marisa V and Atkinson, Celia and Au, Margaret and Berry, Susan A and Bowling, Kevin M and Boyle, Jackie and Buratti, Julien and Cathey, Sara S and Charles, Perrine and Cogne, Benjamin and Courtin, Thomas and Escobar, Luis F and Finley, Sabra Ledare and Graham, John M and Grange, Dorothy K and Heron, Delphine and Hewson, Stacy and Hiatt, Susan M and Hibbs, Kathleen A and Jayakar, Parul and Kalsner, Louisa and Larcher, Lise and Lesca, Gaetan and Mark, Paul R and Miller, Kathryn and Nava, Caroline and Nizon, Mathilde and Pai, G. Shashidhar and Pappas, John and Parsons, Gretchen and Payne, Katelyn and Putoux, Audrey and Rabin, Rachel and Sabatier, Isabelle and Shinawi, Marwan and Shur, Natasha and Skinner, Steven A and Valence, Stephanie and Warren, Hannah and Whalen, Sandra and Crunk, Amy and Douglas, Ganka and Monaghan, Kristin G and Person, Richard E and Willaert, Rebecca and Solomon, Benjamin D and Juusola, Jane
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2036 - 2042
Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing.... 
developmental delay | TCF20 | exome | autism | intellectual disability | DE-NOVO | MODEL | IDENTIFICATION | SPBP | CHILDREN | GENETICS & HEREDITY | MUTATIONS | DOMAINS | CLINICAL EXOME
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3. Full Text Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
by Kurtas, Nehir and Arrigoni, Filippo and Errichiello, Edoardo and Zucca, Claudio and Maghini, Cristina and D’Angelo, Maria Grazia and Beri, Silvana and Giorda, Roberto and Bertuzzo, Sara and Delledonne, Massimo and Xumerle, Luciano and Rossato, Marzia and Zuffardi, Orsetta and Bonaglia, Maria Clara
Journal of Medical Genetics, ISSN 0022-2593, 04/2018, Volume 55, Issue 4, pp. 269 - 277
IntroductionPhelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of... 
polymicrogyria | TCF20 | topologically associating domains | SHANK3 | NFAM1 | INTELLECTUAL DISABILITY | DE-NOVO | PERISYLVIAN POLYMICROGYRIA | GERMLINE | MALFORMATIONS | VARIANTS | GENETICS & HEREDITY | MUTATIONS | RETROTRANSPOSITION | IDENTIFICATION | REARRANGEMENTS | Chromatin | Transcription | Phenotypic variations | Families & family life | Polymicrogyria | Insertion | Genomes | Chromosome deletion | Hybridization | Chromosome rearrangements | Dermatitis | Investigations | Haploinsufficiency | Cysts | Clonal deletion | Chromosome 22 | Mosaicism | Electromyography | Skin | Chromosomes | Saliva | Age | Deoxyribonucleic acid--DNA | Genome-Wide Studies | 1506
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4. Full Text De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
by Vetrini, Francesco and McKee, Shane and Rosenfeld, Jill A and Suri, Mohnish and Lewis, Andrea M and Nugent, Kimberly Margaret and Roeder, Elizabeth and Littlejohn, Rebecca O and Holder, Sue and Zhu, Wenmiao and Alaimo, Joseph T and Graham, Brett and Harris, Jill M and Gibson, James B and Pastore, Matthew and McBride, Kim L and Komara, Makanko and Al-Gazali, Lihadh and Al Shamsi, Aisha and Fanning, Elizabeth A and Wierenga, Klaas J and Scott, Daryl A and Ben-Neriah, Ziva and Meiner, Vardiella and Cassuto, Hanoch and Elpeleg, Orly and Holder, J. Lloyd and Burrage, Lindsay C and Seaver, Laurie H and Van Maldergem, Lionel and Mahida, Sonal and Soul, Janet S and Marlatt, Margaret and Matyakhina, Ludmila and Vogt, Julie and Gold, June-Anne and Park, Soo-Mi and Varghese, Vinod and Lampe, Anne K and Kumar, Ajith and Lees, Melissa and Holder-Espinasse, Muriel and McConnell, Vivienne and Bernhard, Birgitta and Blair, Ed and Harrison, Victoria and Muzny, Donna M and Gibbs, Richard A and Elsea, Sarah H and Posey, Jennifer E and Bi, Weimin and Lalani, Seema and Xia, Fan and Yang, Yaping and Eng, Christine M and Lupski, James R and Liu, Pengfei and DDD Study and DDD study and The DDD study
Genome Medicine, ISSN 1756-994X, 02/2019, Volume 11, Issue 1, pp. 12 - 17
BackgroundNeurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID),... 
Smith-Magenis syndrome | Deletions | 22q13 | TCF20 | Loss-of-function variants | Neurodevelopmental disorders | Haploinsufficiency | MOLECULAR CHARACTERIZATION | SEX | IDENTIFICATION | RAI1 | GENES | GENETICS & HEREDITY | PATIENT | MUTATIONS | SECRETION | EXPRESSION | Obesity | Gene dosage | Phenotypes | Transcription | Intellectual disabilities | Genomics | Genes | Heredity | Genomes | Gene deletion | Proteins | Autism | Androgens | Sleep | DNA microarrays | Clonal deletion | Alleles | Influence | Movement disorders | Genotypes | Smith–Magenis syndrome
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5. Full Text Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
by Coe, Bradley P and Stessman, Holly A. F and Sulovari, Arvis and Geisheker, Madeleine R and Bakken, Trygve E and Lake, Allison M and Dougherty, Joseph D and Lein, Ed S and Hormozdiari, Fereydoun and Bernier, Raphael A and Eichler, Evan E
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes... 
INTELLECTUAL DISABILITY | AUTISM | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | SEGMENTAL DUPLICATIONS | DEVELOPMENTAL DELAY | SPECTRUM | TRUNCATING MUTATIONS | CLINICAL-SIGNIFICANCE | HAPLOINSUFFICIENCY | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Deletion | Gene duplication | Mutation | Chromosome 16 | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
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6. Full Text A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C
by Upadia, Jariya and Gonzales, Patrick R and Atkinson, T. Prescott and Schroeder, Harry W and Robin, Nathaniel H and Rudy, Natasha L and Mikhail, Fady M
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2791 - 2797
Phelan‐McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This... 
B‐cell Activation Factor Receptor | TCF20 | hypogammaglobulinemia | TNFRSF13C | 22q13.2 microdeletion | Phelan‐McDermid syndrome | SHANK3 | Phelan-McDermid syndrome | B-cell Activation Factor Receptor | BAFF | DE-NOVO | GENETICS & HEREDITY | RECEPTOR | DELETIONS | Neonates | Autism | Clonal deletion | Immunodeficiency | Chromosome 22 | Chromosome deletion | Gene deletion | Patients
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