S. Nahas

发表

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

Somatic mosaicism reveals clonal distributions of neocortical development

Martin W. Breuss, C. Glass, D. Antaki, 2022, Nature.

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

S. Kingsmore, M. Bainbridge, Julie A Cakici, 2018, npj Genomic Medicine.

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

S. Kingsmore, Serge Batalov, L. Farnaes, 2017, Cold Spring Harbor molecular case studies.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program

S. Buyske, S. Nahas, M. Keddache, 2022, BMC Infectious Diseases.

Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway.

R. Gatti, S. Nahas, Chih-hung Lai, 2005, International journal of radiation oncology, biology, physics.

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2019, American journal of human genetics.

EPEN-18. Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma

Jesse R. Dixon, Edwin F. Juarez, James T. Robinson, 2020, Neuro-Oncology.

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

Kiely N. James, S. Kingsmore, Nanda Ramchandar, 2020, Cold Spring Harbor molecular case studies.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

Martin W. Breuss, C. Glass, Yan Ding, 2020, bioRxiv.

Five haplotypes account for fifty‐five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations

Catarina D. Campbell, C. Kim, R. Gatti, 2004, American journal of medical genetics. Part A.

Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.

R. Gatti, S. Nahas, A. Butch, 2009, Clinical chemistry.

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

S. Kingsmore, M. Bainbridge, C. Chambers, 2022, npj Genomic Medicine.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

J. Weir, S. Kingsmore, K. Hall, 2021, The New England journal of medicine.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

H. Kayserili, Kenneth Lay, A. Bertoli-Avella, 2022, Nature Genetics.

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

S. Kingsmore, Serge Batalov, S. Chowdhury, 2017, Cold Spring Harbor molecular case studies.

Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole‐genome sequencing

Kiely N. James, S. Nahas, C. Collura, 2022, Pediatric blood & cancer.

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.

J. Witte, R. Bejar, S. Nahas, 2015, Blood.

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

L. Bird, S. Chowdhury, D. Dimmock, 2020, Molecular genetics & genomic medicine.

Transcriptional response to ionizing radiation in human radiation sensitive cell lines.

A. Børresen-Dale, S. Nahas, J. Aarøe, 2007, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

R. Damoiseaux, R. Gatti, S. Nahas, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Nonaminoglycoside compounds induce readthrough of nonsense mutations

R. Damoiseaux, R. Gatti, S. Nahas, 2009, The Journal of experimental medicine.

Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation

B. Brais, R. Gatti, S. Nahas, 2007, Neuromuscular Disorders.

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Kiely N. James, S. Heymans, H. Brunner, 2019, Molecular genetics & genomic medicine.

Letter to the Editor: Biobanks and International Initiatives Are Playing a Critical Role in Redressing Historic Inadequacies in Biosample and Data Access from Underrepresented Minority Populations.

S. Nahas, Mitchell G. Sheldon, R. Grimwood, 2022, Biopreservation and biobanking.

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.

R. Gatti, S. Nahas, M. Mitui, 2004, Proceedings of the National Academy of Sciences of the United States of America.

ATM Gene Founder Haplotypes and Associated Mutations in Polish Families with Ataxia‐Telangiectasia

R. Gatti, S. Nahas, S. Teraoka, 2005, Annals of human genetics.

Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes

S. Nahas, J. Lancet, T. Cluzeau, 2016, Leukemia.

Developmental and temporal characteristics of clonal sperm mosaicism

Kiely N. James, Martin W. Breuss, Laurel L. Ball, 2021, Cell.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Shimul Chowdhury, David P Dimmock, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

C. Doil, J. Bartek, J. Lukas, 2011, Cell Death and Differentiation.

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

Xin Xu, An Nguyen, Xiaoxu Yang, 2020 .

Moving Genomics to Routine Care

Rahul C. Deo, S. Kingsmore, A. Pantazi, 2020, Circulation. Genomic and precision medicine.

An Initial Pilot in Acute Cardiovascular Disease

S. Kingsmore, A. Pantazi, R. Deo, 2020 .

Functional and computational assessment of missense variants in the ataxia‐telangiectasia mutated (ATM) gene: mutations with increased cancer risk

S. Scott, M. Lavin, S. Nahas, 2009, Human mutation.

Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity.

R. Hansen, Y. Marahrens, R. Gatti, 2006, DNA repair.

Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma

Jessica M. Rusert, Edwin F. Juarez, James D. Jensen, 2020, Cancer Research.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Stephen F. Kingsmore, Michael Gottschalk, Nicole G. Coufal, 2018, Cold Spring Harbor molecular case studies.

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths

Thilo Dörk, Gene W. Yeo, Mahnoush Babaei, 2004, Human mutation.

Diagnosis of Ataxia-Telangiectasia

R. Gatti, S. Nahas, H. H. Chun, 2004 .

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

S. Kingsmore, M. Bainbridge, N. Coufal, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

S. Kingsmore, Serge Batalov, N. Veeraraghavan, 2021, NPJ genomic medicine.

Inhibition of Atm and/or Atr disrupts gene silencing on the inactive X chromosome.

S. Horvath, A. Riggs, M. Teitell, 2005, Biochemical and biophysical research communications.

Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.

R. Gatti, S. Nahas, D. McCurdy, 2012, Arthritis and rheumatism.

Comprehensive Profiling of Radiosensitive Human Cell Lines with DNA Damage Response Assays Identifies the Neutral Comet Assay as a Potential Surrogate for Clonogenic Survival

R. Gatti, S. Nahas, P. Concannon, 2011, Radiation research.

Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates.

R. Gatti, S. Nahas, A. Butch, 2004, Clinical chemistry.

Rapid Whole Genome Sequencing Decreases Morbidity and Healthcare Cost of Hospitalized Infants

S. Kingsmore, M. Bainbridge, R. H. Kaplan, 2018, bioRxiv.

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

R. Gatti, S. Nahas, S. Teraoka, 2003, Molecular genetics and metabolism.

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.

J. Witte, R. Bejar, C. Hader, 2015, Blood.

Common copy number variations in fifty radiosensitive cell lines.

R. Gatti, S. Nahas, Xinmin Li, 2012, Genomics.

F.55. Rapid Flow Cytometry-based SMC1 Phosphorylation Assay for Identification of Ataxia-telangiectasia Homozygotes and Heterozygotes

R. Gatti, S. Nahas, A. Butch, 2008 .

DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’

R. Gatti, S. Nahas, 2009, Current opinion in allergy and clinical immunology.

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

S. Kingsmore, M. Bainbridge, R. H. Kaplan, 2018, npj Genomic Medicine.

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

Jesse R. Dixon, Edwin F. Juarez, J. Mesirov, 2023, Nature communications.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response

R. Gatti, S. Nahas, Hailiang Hu, 2013, PLoS genetics.

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

J. Casanova, R. Gatti, S. Nahas, 2008, The Journal of allergy and clinical immunology.

Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci.

R. Gatti, S. Nahas, Francesca M Fike, 2011, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

[Ataxia-telangiectasia with acute lymphoblastic leukemia].

S. Nahas, S. Ghostine, N. Taleb, 1969, La Presse medicale.

Assaying Radiosensitivity of Ataxia-Telangiectasia.

R. Gatti, S. Nahas, Hailiang Hu, 2017, Methods in molecular biology.