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Author Details

Casie A Genetti
Boston Children's Hospital
2015
61
19
PMIDPaper TitleJournal TitlePublished Year
37935568Titin copy number variations associated with dominant inherited phenotypes.J Med Genet2024
36528028Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.Am J Hum Genet2023
37628281Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.Children (Basel)2023
37991862High-Resolution and Noninvasive Fetal Exome Screening.N Engl J Med2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
37059315X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.Bone2023
37183572Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.Am J Med Genet A2023
37280644Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.Orphanet J Rare Dis2023
37279760Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.Am J Hum Genet2023
37107537Children with Early-Onset Psychosis Have Increased Burden of Rare <i>GRIN2A</i> Variants.Genes (Basel)2023
36878902An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.NPJ Genom Med2023
36690831Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.Eur J Hum Genet2023
36868207Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.Am J Hum Genet2023
34707297ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.Eur J Hum Genet2022
35844027X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.Acta Neuropathol2022
35571041Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.Front Genet2022
36000218Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.Am J Psychiatry2022
36324371Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear Myopathy.Neurol Genet2022
35094443Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.Hum Mutat2022
32346159Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.Mol Psychiatry2021
33597717RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.Mol Psychiatry2021
33724192Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.J Med Internet Res2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34645491Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome Med2021
34514437A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.HGG Adv2021
34424265Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.JAMA Pediatr2021
34232960A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.PLoS Genet2021
33397769A Cross-Sectional Study of Nemaline Myopathy.Neurology2021
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
31633297Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.Am J Med Genet A2020
31780822Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Genet Med2020
32022391A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.Am J Med Genet A2020
31794073ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.Ann Neurol2020
33073849De novo variants in MPP5 cause global developmental delay and behavioral changes.Hum Mol Genet2020
33232677Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.Am J Hum Genet2020
33037864Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.Ann Clin Transl Neurol2020
32775833Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.Kidney Int Rep2020
32396742Congenital Heart Defects Due to <i>TAF1</i> Missense Variants.Circ Genom Precis Med2020
31484632Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.Arch Dis Child2020
30609409Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.Am J Hum Genet2019
30209271Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.Genet Med2019
31395954Infant mortality: the contribution of genetic disorders.J Perinatol2019
30979967Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.Eur J Hum Genet2019
30735661The Genetic Landscape of Diamond-Blackfan Anemia.Am J Hum Genet2019
30932294Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.Hum Mutat2019
30600268Challenging the Current Recommendations for Carrier Testing in Children.Pediatrics2019
30514889ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.Genet Med2019
28726122Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.JIMD Rep2018
29986673The BabySeq project: implementing genomic sequencing in newborns.BMC Pediatr2018
29985992BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.Brain2018
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Collaborators

Broad Institute of MIT and Harvard
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Harvard Medical School.
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Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
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Harvard Medical School
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 8
Baylor College of Medicine.
Co-authored papers 8
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Co-authored papers 7
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Co-authored papers 7
Broad Institute of MIT and Harvard
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Baylor College of Medicine.
Co-authored papers 5
Boston Children's Hospital, Harvard Medical School
Co-authored papers 5
UCL Great Ormond Street Institute of Child Health
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
The Broad Institute of MIT and Harvard
Co-authored papers 4
Harvard Medical School, Harvard Pilgrim Health Care Institute
Co-authored papers 4
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Radboud University Medical Center
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Boston Children's Hospital, Harvard Medical School
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Manton Center for Orphan Disease Research, Boston Children's Hospital
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Harvard Medical School, Brigham and Women's Hospital
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Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA.
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Johns Hopkins University School of Medicine
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