Detection of mosaic variants using genome sequencing in a large pediatric cohort
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V. Jobanputra | B. Gelb | E. Kenny | J. Greally | L. Edelmann | G. Diaz | N. Abul-Husn | J. Odgis | M. Ganapathi | C. Horowitz | M. Ramos | R. Zinberg | S. Guha | M. Wasserstein | V. Okur | S. Suckiel | A. Rehman | N. Kelly | K. Brown | Katie M. Gallagher | Monisha Sebastin | Amanda Thomas-Wilson | L. Elkhoury | Nicole R Kelly | Jacqueline A Odgis | Sabrina A. Suckiel | Kaitlyn Brown | Priya N. Marathe | Katherine E Bonini | Miranda Di Biase | K. Gallagher | P. Marathe | K. Bonini | M. Sebastin | A. Thomas-Wilson | M. Di Biase | Michelle A. Ramos
[1] V. Jobanputra,et al. eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing , 2022, Genetics in Medicine.
[2] C. Boerkoel,et al. Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications , 2021, Cold Spring Harbor molecular case studies.
[3] H. Weiner,et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. , 2021, Pediatric neurology.
[4] Siobhan M. Dolan,et al. The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children , 2020, Trials.
[5] Daniel C. Koboldt,et al. Best practices for variant calling in clinical sequencing , 2020, Genome medicine.
[6] R. Wilson,et al. Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience , 2020, Cold Spring Harbor molecular case studies.
[7] Hanlin Gao,et al. The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism. , 2020, The Journal of molecular diagnostics : JMD.
[8] R. Śmigiel,et al. CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy , 2020, Brain sciences.
[9] N. Chémaly,et al. Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability , 2020 .
[10] S. South,et al. Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) , 2019, Genetics in Medicine.
[11] N. Boddaert,et al. Epilepsy with migrating focal seizures , 2019, Neurology: Genetics.
[12] Praveen K. Chandrasekharan,et al. Infantile refractory seizures due to de novo KCNT 1 mutation , 2019, BMJ Case Reports.
[13] E. Pestana-Knight,et al. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. , 2019, Pediatric neurology.
[14] J. Hentschel,et al. Parental mosaicism in epilepsies due to alleged de novo variants , 2019, Epilepsia.
[15] M. Jaatun,et al. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study , 2018, Epilepsia open.
[16] Angela Marchi,et al. Postictal electroencephalographic (EEG) suppression: A stereo‐EEG study of 100 focal to bilateral tonic–clonic seizures , 2018, Epilepsia.
[17] K. Nagata,et al. De novo PHACTR1 mutations in West syndrome and their pathophysiological effects , 2018, Brain : a journal of neurology.
[18] I. Simonic,et al. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development , 2018, Annals of neurology.
[19] G. Carvill,et al. Parental Mosaicism in "De Novo" Epileptic Encephalopathies. , 2018, The New England journal of medicine.
[20] K. B. Manheimer,et al. Robust identification of mosaic variants in congenital heart disease , 2018, Human Genetics.
[21] L. Shlush. Age-related clonal hematopoiesis. , 2018, Blood.
[22] Amanda S. Lindy,et al. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders , 2017, Genetics in Medicine.
[23] A. Y. Ye,et al. Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort , 2017, Scientific Reports.
[24] François Dubeau,et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. , 2017, American journal of human genetics.
[25] Donald N Freed,et al. The Contribution of Mosaic Variants to Autism Spectrum Disorder , 2016, PLoS genetics.
[26] Arthur Wuster,et al. Timing, rates and spectra of human germline mutation , 2015, Nature Genetics.
[27] C. Walsh,et al. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms , 2015, Neuron.
[28] L. Vissers,et al. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. , 2015, American journal of human genetics.
[29] Y. Kuroda,et al. Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features , 2015, American journal of medical genetics. Part A.
[30] 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.
[31] S. Dib-Hajj,et al. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy , 2015, Journal of Medical Genetics.
[32] Leslie Cope,et al. Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. , 2014, American journal of clinical pathology.
[33] Wu We,et al. American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants , 2014 .
[34] S. Haas,et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. , 2013, Human molecular genetics.
[35] Leslie G. Biesecker,et al. A genomic view of mosaicism and human disease , 2013, Nature Reviews Genetics.
[36] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[37] S. South,et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants , 2011, Genetics in Medicine.
[38] N. C. Schanen,et al. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 , 2010, Neurobiology of Disease.
[39] Laura K Conlin,et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. , 2010, Human molecular genetics.