Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
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Heinen | Heiko | Kehrer | D. Horn | S. Mundlos | M. Spielmann | E. Schröck | T. Meitinger | T. Strom | L. Schöls | M. Holtgrewe | J. Hentschel | Alexej Knaus | J. Pantel | Tzung-Chien Hsieh | C. Ott | M. Sturm | Wagner | Nadja Ehmke | T. Haack | Nazanin Mirza-Schreiber | Hoffjan | Shahida Moosa | C. Kubisch | E. Graf | N. Donato | K. Cremer | M. Hempel | H. Engels | R. Betz | F. Hauck | A. Kaindl | I. Kurth | F. Kaiser | K. Platzer | T. Brunet | H. Graessner | O. Riess | C. Schramm | G. Demidov | R. Betz | S. Holzhauer | T. Rothoeft | J. Lemke | R. Jamra | Y. Hellenbroich | C. Rudolph | M. Elbracht | C. Grasemann | F. Brinkmann | K. Oexle | E. Mangold | P. Weydt | A. Kuechler | S. Hoffjan | C. Bührer | R. Berutti | C. Schuetz | K. Hinderhofer | C. Weiss | J. Hoefele | U. Kotzaeridou | F. Kraft | V. Schäfer | C. Schlein | P. Tacik | O. Kimmich | L. Zeltner | M. Krenn | C. Makowski | A. Bevot | Grigull | P. Bufler | U. Reuner | A. Muntau | L. Kaufmann | M. Rohlfs | Kobeleva | F. Brinkmann | Martje G. Pauly | Rebecca Herzog | M. Zawada | Martin | Klein | Magdalena Danyel | Hannah Klinkhammer | H. Lesmann | S. Sivalingam | A. Schmidt | S. Peters | M. Kreiß | C. Perne | Tim Bender | Luisa Averdunk | Ulrich Schatz | N. Weinhold | T. Kallinich | J. Neugebauer | C. Knopp | M. Mücke | J. Körholz | Martin Munteanu | Matias | K. Riedhammer | H. Nguyen | Réka | Britta Hanker | Christoph | Alexander | S. Beck-Wödl | A. Grüters-Kieslich | N. Weinhold | Castro-Goméz | Felix Boschann | Karakostas | K. Grundmann | M. Grobe-Einsler | Weigand | Kreiss | M. Schülke | Eva | V. Strehlow | Nóra | D. Choukair | Mańka | Fabian Brand | Franziska Rillig | Theresia Herget | A. Tibelius | J. Magg | M. Pamela | S. Schröder | M. Nöthen | Demet Önder | Sabine | C. Stieber | Eva M. C. Schwaibold | Matar | E. Schlapakow | Matthias Begemann | Aude-Annick Suter | N. Kaiser | M. Brugger | M. A. Mensah | C. Buehrer | C. Stoltenburg | F. Boschann | Christiane | Pantelis | S. Schwartzmann | Maximilian | Christian | D. Westphal | Markus | G. Hoffmann | Heike | T. Bäumer | Katja Lohmann | Katharina Mayerhanser | Martina | Sheetal Kumar | Ingo Borggraefe | Annekatrin Ripke | Henrike | Okun | U. Kornak | Sarah Bernsen | S. Moosa | A. Boesch | H. Sczakiel | H. Klinkhammer | A. Knaus | L. Averdunk | M. Danyel | T. Bender | M. Schuelke | Tanita Kretschmer | N. Matar | C. Weiss | J. Neugebauer | H. P. Nguyen | T. Klockgether | R. Hirtz | C. Weiler-Normann | Christina Weiler-Normann | M. Grobe‐Einsler | W. Müller-Felber | Reinhard Berner | I. Hüning | Jasmin Lisfeld | André | P. M. Krawitz | Sczakiel | Annemarie Bösch | -. Aude | Annick Suter | Tillmann Kallinich | Lorenz | Spier Isabel | H. André | Bender Tim | Alexandra Marzena Morawiec | Sergio | Ahmad Aziz | Xenia | Min | A. Lee-Kirsch | Amalia-Mihaela Hanßke | Kiewert Cordula | K. Ullrich | Groffmann | P. Schaaf | Bettendorf | Münchau | Kovacs | Vill Katharina | Krude | P. Krawitz | B. Tim | Riccardo Berutti | Henrike | Julia Körholz | Florian Kraft | Melanie Brugger | Matar
[1] Tzung-Chien Hsieh,et al. Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles , 2022, 2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV).
[2] M. Posada de la Paz,et al. Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry , 2022, Orphanet Journal of Rare Diseases.
[3] Nadja Ehmke,et al. Novel mutation and expanding phenotype in IRF2BP2 deficiency. , 2022, Rheumatology.
[4] Alexej Knaus,et al. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome , 2022, Human mutation.
[5] The Genomes-Project-Pilot-Investigators. 100,000 genomes pilot on rare-disease diagnosis in health care preliminary report , 2022, Yearbook of Paediatric Endocrinology.
[6] K. Platzer,et al. AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders , 2022, Human mutation.
[7] J. Lupski,et al. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. , 2022, American journal of human genetics.
[8] M. Nöthen,et al. The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project. , 2022, Deutsches Arzteblatt international.
[9] M. Posada de la Paz,et al. Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay , 2022, International journal of environmental research and public health.
[10] M. Nöthen,et al. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors , 2022, Nature Genetics.
[11] C. Klein,et al. An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee , 2021, Orphanet Journal of Rare Diseases.
[12] J. Gécz,et al. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. , 2021, American journal of human genetics.
[13] C. Gieger,et al. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. , 2021, Brain : a journal of neurology.
[14] J. Lupski,et al. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. , 2021, American journal of human genetics.
[15] S. Wortmann,et al. A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder , 2021, EMBO molecular medicine.
[16] D. Seelow,et al. Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive , 2021, Journal of Medical Genetics.
[17] H. Kanegane,et al. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency , 2021, Science Immunology.
[18] H. Fröhlich,et al. CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph , 2021, medRxiv.
[19] J. Shendure,et al. CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores , 2021, Genome Medicine.
[20] T. Strom,et al. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy , 2021, The Journal of clinical investigation.
[21] D. Horn,et al. Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly , 2021, Genetics in Medicine.
[22] J. Pantel,et al. Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase , 2020, bioRxiv.
[23] H. Hakonarson,et al. Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features , 2020, Science Advances.
[24] M. Caulfield,et al. An online compendium of treatable genetic disorders , 2020, American journal of medical genetics. Part C, Seminars in medical genetics.
[25] T. Meitinger,et al. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy , 2020, Annals of clinical and translational neurology.
[26] Golder N Wilson,et al. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. , 2020, Brain : a journal of neurology.
[27] R. Mägi,et al. The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects , 2020, bioRxiv.
[28] M. Hurles,et al. Evaluating variants classified as pathogenic in ClinVar in the DDD Study , 2020, Genetics in Medicine.
[29] Rebecca C. Spillmann,et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction , 2020, bioRxiv.
[30] David R. Murdock,et al. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. , 2020, The Journal of clinical investigation.
[31] Justyna A. Karolak,et al. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions , 2020, Genetics in Medicine.
[32] Keith W. Muir,et al. Whole-genome sequencing of patients with rare diseases in a national health system , 2020, Nature.
[33] D. Seelow,et al. VarFish: comprehensive DNA variant analysis for diagnostics and research , 2020, Nucleic Acids Res..
[34] Melissa J. Landrum,et al. ClinVar: improvements to accessing data , 2019, Nucleic Acids Res..
[35] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[36] William J. Astle,et al. Whole genome sequencing of a sporadic primary immunodeficiency cohort , 2018, Nature.
[37] Tudor I. Oprea,et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead , 2019, Nature Reviews Drug Discovery.
[38] Kiely N. James,et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. , 2019, American journal of human genetics.
[39] A. Olry,et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database , 2019, European Journal of Human Genetics.
[40] S. Antonarakis. Carrier screening for recessive disorders , 2019, Nature Reviews Genetics.
[41] Tomas W. Fitzgerald,et al. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data , 2019, Nature Communications.
[42] T. Meitinger,et al. Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease , 2019, Journal of inherited metabolic disease.
[43] M. Nöthen,et al. PEDIA: prioritization of exome data by image analysis , 2018, Genetics in Medicine.
[44] Jae Min Lee,et al. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte , 2019, Orphanet Journal of Rare Diseases.
[45] Srinivas Aluru,et al. Efficient Architecture-Aware Acceleration of BWA-MEM for Multicore Systems , 2019, 2019 IEEE International Parallel and Distributed Processing Symposium (IPDPS).
[46] Jean M. Davidson,et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts , 2019, Nature Medicine.
[47] T. Wienker,et al. Genetics of intellectual disability in consanguineous families , 2019, Molecular Psychiatry.
[48] Borut Peterlin,et al. PEDIA: prioritization of exome data by image analysis , 2018, Genetics in Medicine.
[49] Tomas W. Fitzgerald,et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders , 2018, Genetics in Medicine.
[50] James D Stephenson,et al. Quantifying the contribution of recessive coding variation to developmental disorders , 2017, Science.
[51] Christine M. Cutillo,et al. Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective , 2017, Clinical and translational science.
[52] Z. Ning,et al. Split-Read Indel and Structural Variant Calling Using PINDEL. , 2018, Methods in molecular biology.
[53] Tudor Groza,et al. Matchmaker Exchange , 2017, Current protocols in human genetics.
[54] Peter N. Robinson,et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases , 2017, American journal of human genetics.
[55] J. Michael Cherry,et al. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource , 2017, bioRxiv.
[56] Frank Klawonn,et al. Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey , 2017, PloS one.
[57] Clara Gaff,et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.
[58] Donna M. Muzny,et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation , 2017, The New England journal of medicine.
[59] Francesco Muntoni,et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing , 2016, Science Translational Medicine.
[60] Brent S. Pedersen,et al. Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy , 2016, bioRxiv.
[61] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, bioRxiv.
[62] Yali Xue,et al. BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data , 2016, Bioinform..
[63] C. Webber,et al. Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. , 2016, American journal of human genetics.
[64] W. Chung,et al. Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.
[65] Harry Hemingway,et al. Health and population effects of rare gene knockouts in adult humans with related parents , 2015, Science.
[66] Orion J. Buske,et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.
[67] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[68] M. Stephens,et al. An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans , 2014, Genetics.
[69] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[70] Damian Smedley,et al. Jannovar: A Java Library for Exome Annotation , 2014, Human mutation.
[71] D. G. MacArthur,et al. Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.
[72] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[73] R Core Team,et al. R: A language and environment for statistical computing. , 2014 .
[74] Nicholas W. Wood,et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..
[75] Richard M Myers,et al. Genomic patterns of homozygosity in worldwide human populations. , 2012, American journal of human genetics.
[76] Heng Li,et al. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data , 2011, Bioinform..
[77] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[78] E. van Binsbergen,et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. , 2009, European journal of medical genetics.
[79] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[80] Jurg Ott,et al. Genome‐wide autozygosity mapping in human populations , 2009, Genetic epidemiology.
[81] A. Ballabio,et al. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. , 2007, Human gene therapy.
[82] A. Chakravarti,et al. On consanguineous marriages and the genetic load , 2004, Human Genetics.