Web, Core Bioinformatics and Software Action Team | Information Communications Technology

Web, Core Bioinformatics and Software Action Team | Information Communications Technology

Web, Core Bioinformatics and Software Action Team

Core Software ServicesSanger Institute, Genome Research Limited

Our Research and Approach

Core Software Services encompasses: the Core Sanger Web Team; Core Bioinformatics (CoreBio); SoftWare Action Team (SWAT) and the Decipher Web Team at the Sanger Institute. As a group the team is involved in the day to day service provision and maintenance of the 50 plus public domains at the Sanger Institute including www.sanger.ac.uk and for developing and realising software projects to deliver the in silico science produced by the various Faculty teams.

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People

Dr Paul Bevan, MBCS
Group Leader

I manage and oversee the provision of core software services at the Sanger Institute.

Key Projects, Collaborations, Tools & Data

Partners and Funders

We partner with other academic institutes mainly at the consortium level. All our core activities are funded by the Wellcome Trust with some consortia projects funded by biomedical charities.
Internal Partners
External Partners and Funders

Publications

  • Prevalence and architecture of de novo mutations in developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2017;542;7642;433-438

  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

    Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF et al.

    Lancet (London, England) 2015;385;9975;1305-14

  • Large-scale discovery of novel genetic causes of developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2015;519;7542;223-8

  • Patterns of somatic mutation in human cancer genomes.

    Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C et al.

    Nature 2007;446;7132;153-8

  • A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.

    Stephens P, Edkins S, Davies H, Greenman C, Cox C et al.

    Nature genetics 2005;37;6;590-2

  • A physical map of the mouse genome.

    Gregory SG, Sekhon M, Schein J, Zhao S, Osoegawa K et al.

    Nature 2002;418;6899;743-50

  • SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

    Kanani F, Study D and Balasubramanian M

    Clinical dysmorphology 2018;27;4;113-115

  • 'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods.

    Middleton A, Niemiec E, Prainsack B, Bobe J, Farley L et al.

    Personalized medicine 2018;15;4;311-318

  • SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

    Richardson R, Splitt M, Newbury-Ecob R, Hulbert A, Kennedy J et al.

    European journal of human genetics : EJHG 2018

  • MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

    Balasubramanian M, Johnson DS and DDD Study

    European journal of medical genetics 2018

  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

    Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA et al.

    Nature communications 2018;9;1;2256

  • De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM et al.

    American journal of human genetics 2018;102;6;1195-1203

  • A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

    Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ et al.

    Human mutation 2018;39;6;822-826

  • Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

    Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J et al.

    European journal of human genetics : EJHG 2018;26;6;796-807

  • De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

    Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL et al.

    Human genetics 2018

  • A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

    Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K et al.

    American journal of human genetics 2018;102;5;995-1007

  • The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

    McDermott JH, Study DDD, Clayton-Smith J and Briggs TA

    European journal of medical genetics 2018;61;5;253-256

  • Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

    Schirwani S, Wakeling E, Smith K, DDD Study and Balasubramanian M

    American journal of medical genetics. Part A 2018;176;5;1238-1244

  • Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

    Owen CI, Bowden R, Parker MJ, Patterson J, Patterson J et al.

    American journal of medical genetics. Part A 2018;176;5;1108-1114

  • Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

    Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A et al.

    American journal of medical genetics. Part A 2018;176;5;1049-1054

  • Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

    Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG et al.

    European journal of medical genetics 2018

  • Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

    Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR et al.

    American journal of medical genetics. Part A 2018;176;4;862-876

  • NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

    Campbell J, FitzPatrick DR, Azam T, Gibson NA, Somerville L et al.

    Pediatrics 2018;141;Suppl 5;S485-S490

  • De novo mutations in regulatory elements in neurodevelopmental disorders.

    Short PJ, McRae JF, Gallone G, Sifrim A, Won H et al.

    Nature 2018;555;7698;611-616

  • A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

    Low KJ, James M, Sharples PM, Eaton M, Jenkinson S et al.

    Seizure 2018;56;1-3

  • BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

    Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J et al.

    Nature genetics 2018;50;3;329-332

  • Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

    Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C et al.

    American journal of human genetics 2018;102;3;468-479

  • Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.

    Khan U, Study D, Baker E and Clayton-Smith J

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018;55;3;456-461

  • New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

    Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F et al.

    Human genetics 2018

  • De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

    Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H et al.

    Molecular psychiatry 2018;23;2;222-230

  • Phenotypic spectrum associated with de novo mutations in QRICH1 gene.

    Ververi A, Splitt M, Dean JCS, DDD Study and Brady AF

    Clinical genetics 2018;93;2;286-292

  • PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

    Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ et al.

    Journal of medical genetics 2018;55;2;104-113

  • Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

    Wright CF, McRae JF, Clayton S, Gallone G, Aitken S et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2018

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

    Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J et al.

    American journal of human genetics 2018;102;1;175-187

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F et al.

    American journal of human genetics 2018;102;1;116-132

  • Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

    Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA et al.

    American journal of human genetics 2018;102;1;44-57

  • The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.

    Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S et al.

    Wellcome open research 2018;3;46

  • HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

    Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L et al.

    European journal of human genetics : EJHG 2018;26;1;64-74

  • A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

    Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L et al.

    American journal of human genetics 2017;101;6;995-1005

  • ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

    Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R et al.

    American journal of human genetics 2017;101;6;1021-1033

  • De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

    Green C, Willoughby J, DDD Study and Balasubramanian M

    American journal of medical genetics. Part A 2017;173;12;3165-3171

  • Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype.

    Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C et al.

    Journal of medical genetics 2017;54;12;830-835

  • De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

    Lessel D, Schob C, Küry S, Reijnders MRF, Harel T et al.

    American journal of human genetics 2017;101;5;716-724

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

    Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X et al.

    American journal of human genetics 2017;101;5;768-788

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

    Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D et al.

    American journal of human genetics 2017;101;5;664-685

  • Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

    Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, DDD Study et al.

    American journal of human genetics 2017;101;5;824-832

  • De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

    Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z et al.

    American journal of medical genetics. Part A 2017;173;11;3003-3012

  • Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

    Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K et al.

    Nature genetics 2017;49;11;1642-1646

  • Matchmaker Exchange.

    Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B et al.

    Current protocols in human genetics 2017;95;9.31.1-9.31.15

  • Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

    Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H et al.

    American journal of human genetics 2017;101;4;503-515

  • The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

    Bayat A, Kerr B, Douzgou S and DDD Study

    Clinical dysmorphology 2017;26;4;247-251

  • Detection of structural mosaicism from targeted and whole-genome sequencing data.

    King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E et al.

    Genome research 2017;27;10;1704-1714

  • Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome.

    Saskin A, Tischkowitz M and DDD Study

    Clinical dysmorphology 2017;26;4;235-237

  • RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

    Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL et al.

    American journal of human genetics 2017;101;3;466-477

  • Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

    Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C et al.

    Neurology 2017;89;10;1035-1042

  • Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>.

    Suri M, Evers JMG, Laskowski RA, O'Brien S, Baker K et al.

    Molecular genetics & genomic medicine 2017;5;5;495-507

  • De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

    Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB et al.

    American journal of human genetics 2017;101;2;300-310

  • Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

    Bengani H, Handley M, Alvi M, Ibitoye R, Lees M et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2017;19;8;900-908

  • Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literature.

    Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV et al.

    Journal of medical genetics 2017;54;8;537-543

  • Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

    Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N et al.

    European journal of human genetics : EJHG 2017;25;8;946-951

  • MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

    Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML et al.

    PLoS genetics 2017;13;8;e1006957

  • WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

    Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI et al.

    American journal of human genetics 2017;101;1;139-148

  • Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

    Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF et al.

    European journal of human genetics : EJHG 2017;25;6;669-679

  • PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

    Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S et al.

    European journal of human genetics : EJHG 2017;25;5;552-559

  • De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

    Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P et al.

    American journal of human genetics 2017;100;4;650-658

  • A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.

    Siddique A, Willoughby J, DDD Study and McNeill A

    American journal of medical genetics. Part A 2017;173;4;1128-1130

  • Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

    Depienne C, Nava C, Keren B, Heide S, Rastetter A et al.

    Human genetics 2017;136;4;463-479

  • Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

    Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J et al.

    Epilepsia 2017;58;4;565-575

  • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the <i>ERF</i> gene.

    Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F et al.

    Journal of medical genetics 2017;54;3;157-165

  • Returning genome sequences to research participants: Policy and practice.

    Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR et al.

    Wellcome open research 2017;2;15

  • Prevalence and architecture of de novo mutations in developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2017;542;7642;433-438

  • Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

    Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A et al.

    European journal of medical genetics 2017;60;2;130-135

  • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

    Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D et al.

    Nature genetics 2017;49;2;223-237

  • Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

    Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C et al.

    Human molecular genetics 2017;26;3;519-526

  • De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

    Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF et al.

    American journal of human genetics 2017;100;1;138-150

  • Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

    Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A et al.

    American journal of human genetics 2017;100;1;91-104

  • Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

    Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P et al.

    Bone 2017;94;65-74

  • FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

    Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE et al.

    Journal of medical genetics 2017;54;1;64-72

  • FHF1 (FGF12) epileptic encephalopathy.

    Al-Mehmadi S, Splitt M, For DDD Study group*, Ramesh V, DeBrosse S et al.

    Neurology. Genetics 2016;2;6;e115

  • Clinical and genetic aspects of KBG syndrome.

    Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C et al.

    American journal of medical genetics. Part A 2016;170;11;2835-2846

  • Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

    Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N et al.

    Nature genetics 2016;48;11;1349-1358

  • Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly.

    Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR et al.

    Journal of medical genetics 2016;53;11;735-742

  • De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

    Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M et al.

    American journal of human genetics 2016;99;4;934-941

  • CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

    Menke LA, van Belzen MJ, Alders M, Cristofoli F, DDD Study et al.

    American journal of medical genetics. Part A 2016;170;10;2681-93

  • Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

    Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ et al.

    Genes & development 2016;30;19;2158-2172

  • Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

    Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S et al.

    Clinical dysmorphology 2016;25;4;135-45

  • Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

    Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T et al.

    American journal of human genetics 2016;99;3;683-694

  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

    Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL et al.

    American journal of human genetics 2016;99;3;711-719

  • Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH et al.

    Nature genetics 2016;48;9;1060-5

  • BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

    Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ et al.

    American journal of human genetics 2016;99;2;253-74

  • A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

    Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K et al.

    Journal of medical genetics 2016;53;8;523-32

  • Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

    Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A et al.

    Molecular genetics & genomic medicine 2016;4;4;465-74

  • Further defining the phenotypic spectrum of B4GALT7 mutations.

    Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D et al.

    American journal of medical genetics. Part A 2016;170;6;1556-63

  • Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

    Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B et al.

    Human molecular genetics 2016;25;11;2158-2167

  • A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

    McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A et al.

    American journal of human genetics 2016;98;5;981-992

  • The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

    Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE et al.

    European journal of human genetics : EJHG 2016;24;5;652-9

  • Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

    Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L et al.

    Nature neuroscience 2016;19;4;571-7

  • Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

    Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH et al.

    American journal of medical genetics. Part A 2016;170;3;670-5

  • Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

    Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V et al.

    Journal of medical genetics 2016;53;3;152-62

  • Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

    Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E et al.

    Human molecular genetics 2016;25;5;927-35

  • De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

    Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM et al.

    American journal of human genetics 2016;98;2;373-81

  • A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

    Deciphering Developmental Disorders Study Group, Constantinou P, D'Alessandro M, Lochhead P, Samant S et al.

    Molecular syndromology 2016;6;5;254-8

  • Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

    Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME et al.

    European journal of human genetics : EJHG 2016;24;1;21-9

  • Ensembl comparative genomics resources.

    Herrero J, Muffato M, Beal K, Fitzgerald S, Gordon L et al.

    Database : the journal of biological databases and curation 2016;2016

  • Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.

    Gazdagh G, Tobias ES, Ahmed SF, McGowan R and DDD Study Group

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016;10;3;130-5

  • Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

    Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K et al.

    Nature neuroscience 2015;18;12;1731-6

  • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M et al.

    Nature genetics 2015;47;11;1363-9

  • WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

    DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD Study et al.

    Journal of medical genetics 2015;52;11;754-61

  • The Matchmaker Exchange: a platform for rare disease gene discovery.

    Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA et al.

    Human mutation 2015;36;10;915-21

  • The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.

    Buske OJ, Schiettecatte F, Hutton B, Dumitriu S, Misyura A et al.

    Human mutation 2015;36;10;922-7

  • De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

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  • Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

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  • Further delineation of the KAT6B molecular and phenotypic spectrum.

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    European journal of human genetics : EJHG 2015;23;9;1165-70

  • Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

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    Clinical genetics 2015;88;3;224-33

  • Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

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  • B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

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    The Journal of clinical investigation 2015;125;8;3051-62

  • Potential research participants support the return of raw sequence data.

    Middleton A, Wright CF, Morley KI, Bragin E, Firth HV et al.

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  • Mosaic structural variation in children with developmental disorders.

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    Human molecular genetics 2015;24;10;2733-45

  • Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

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    European journal of human genetics : EJHG 2015;23;5;610-5

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    American journal of human genetics 2015;96;4;555-64

  • Large-scale discovery of novel genetic causes of developmental disorders.

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  • Ensembl 2015.

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  • Synaptic, transcriptional and chromatin genes disrupted in autism.

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    Middleton A, Bragin E, Parker M and DDD Study

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    Middleton A, Bragin E, Morley KI, Parker M and DDD Study

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  • Ensembl 2014.

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    Middleton A, Parker M, Wright CF, Bragin E, Hurles ME and DDD Study

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  • Interpretation of genomic copy number variants using DECIPHER.

    Corpas M, Bragin E, Clayton S, Bevan P and Firth HV

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  • The Deciphering Developmental Disorders (DDD) study.

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