Search Results - "Bootwalla M"

Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.

Authors: O'Halloran K Yellapantula V Christodoulou E et al.

Source: Neuro-oncology advances [Neurooncol Adv] 2023 Jun 28; Vol. 5 (1), pp. vdad077. Date of Electronic Publication: 2023 Jun 28 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755003 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-2498 (Electronic) Linking ISSN: 26322498 NLM ISO Abbreviation: Neurooncol Adv Subsets: PubMed not MEDLINE

Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.

Authors: Christodoulou E Yellapantula V O'Halloran K et al.

Source: NPJ precision oncology [NPJ Precis Oncol] 2023 Feb 20; Vol. 7 (1), pp. 21. Date of Electronic Publication: 2023 Feb 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature Country of Publication: England NLM ID: 101708166 Publication Model: Electronic Cited Medium: Print ISSN: 2397-768X (Print) Linking ISSN: 2397768X NLM ISO Abbreviation: NPJ Precis Oncol Subsets: PubMed not MEDLINE

Pediatric Chordoma: A Tale of Two Genomes.

Authors: O'Halloran K Hakimjavadi H Bootwalla M et al.

Source: Molecular cancer research : MCR [Mol Cancer Res] 2024 Aug 02; Vol. 22 (8), pp. 721-729.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101150042 Publication Model: Print Cited Medium: Internet ISSN: 1557-3125 (Electronic) Linking ISSN: 15417786 NLM ISO Abbreviation: Mol Cancer Res Subsets: MEDLINE

An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.

Authors: Buckley J Schmidt RJ Ostrow D et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Feb; Vol. 26 (2), pp. 127-139. Date of Electronic Publication: 2023 Nov 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Authors: Lopera F Marino C Chandrahas AS et al.

Source: Nature medicine [Nat Med] 2023 May; Vol. 29 (5), pp. 1243-1252. Date of Electronic Publication: 2023 May 15.

Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.

Authors: Im DH Peng CC Xu L et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 02; Vol. 23 (11). Date of Electronic Publication: 2022 Jun 02.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Implementation of a Streamlined SARS-CoV-2 Whole-Genome Sequencing Assay for Expeditious Surveillance during the Emergence of the Omicron Variant.

Authors: Fissel JA Mestas J Chen PY et al.

Source: Journal of clinical microbiology [J Clin Microbiol] 2022 Apr 20; Vol. 60 (4), pp. e0256921. Date of Electronic Publication: 2022 Mar 23.

Publication Type: Letter

Journal Info: Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 7505564 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-660X (Electronic) Linking ISSN: 00951137 NLM ISO Abbreviation: J Clin Microbiol Subsets: MEDLINE

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Authors: Ji J Quindipan C Parham D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1390-1395. Date of Electronic Publication: 2017 Mar 28.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors.

Authors: Kaneva K O'Halloran K Triska P et al.

Source: Neuro-oncology advances [Neurooncol Adv] 2021 Jun 02; Vol. 3 (1), pp. vdab074. Date of Electronic Publication: 2021 Jun 02 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755003 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-2498 (Electronic) Linking ISSN: 26322498 NLM ISO Abbreviation: Neurooncol Adv Subsets: PubMed not MEDLINE

Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.

Authors: Truong TT Ryutov A Pandey U et al.

Source: EBioMedicine [EBioMedicine] 2021 May; Vol. 67, pp. 103355. Date of Electronic Publication: 2021 Apr 26.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity.

Authors: Truong TT Ryutov A Pandey U et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2021 Mar 02. Date of Electronic Publication: 2021 Mar 02.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Early pandemic molecular diversity of SARS-CoV-2 in children.

Authors: Moustafa AM Otto W Gai X et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2021 Feb 19. Date of Electronic Publication: 2021 Feb 19.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.

Authors: Pandey U Yee R Shen L et al.

Source: Open forum infectious diseases [Open Forum Infect Dis] 2020 Nov 13; Vol. 8 (6), pp. ofaa551. Date of Electronic Publication: 2020 Nov 13 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Published by Oxford University Press on behalf of the Infectious Diseases Society of America Country of Publication: United States NLM ID: 101637045 Publication Model: eCollection Cited Medium: Print ISSN: 2328-8957 (Print) Linking ISSN: 23288957 NLM ISO Abbreviation: Open Forum Infect Dis Subsets: PubMed not MEDLINE

Matrix metalloproteinase-3 (MMP-3) -1612 5A/6A promoter polymorphism in coronary artery disease in Indian population.

Authors: Shalia KK Shah VK Mashru MR et al.

Source: Indian journal of clinical biochemistry : IJCB [Indian J Clin Biochem] 2010 Apr; Vol. 25 (2), pp. 133-40. Date of Electronic Publication: 2010 May 27.

Publication Type: Journal Article

Journal Info: Publisher: Association of Clinical Biochemists of India Country of Publication: India NLM ID: 8708303 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0970-1915 (Print) Linking ISSN: 09701915 NLM ISO Abbreviation: Indian J Clin Biochem Subsets: PubMed not MEDLINE

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

Authors: Arboleda-Velasquez JF Lopera F O'Hare M et al.

Source: Nature medicine [Nat Med] 2019 Nov; Vol. 25 (11), pp. 1680-1683. Date of Electronic Publication: 2019 Nov 04.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Authors: Ji J Shen L Bootwalla M et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Apr 01; Vol. 5 (2). Date of Electronic Publication: 2019 Apr 01 (Print Publication: 2019).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

Authors: Hiemenz MC Ostrow DG Busse TM et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Nov; Vol. 20 (6), pp. 765-776. Date of Electronic Publication: 2018 Aug 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.

Authors: Linehan WM Spellman PT Ricketts CJ et al.

Corporate Authors: Linehan WM Spellman PT Ricketts CJ et al.

Source: The New England journal of medicine [N Engl J Med] 2016 Jan 14; Vol. 374 (2), pp. 135-45. Date of Electronic Publication: 2015 Nov 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE