Search Results - "Rockowitz S"

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473P Using RNAseq analysis in a cohort of undiagnosed congenital myopathy patients.

Authors: Barraza-Flores, P. Genetti, C. Shao, W. et al.

Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

FOXC2 and WT1 regulate transcriptional reprogramming during the podocyte response to injury.

Authors: Ettou S Greenberg A Lee S et al.

Source: JCI insight [JCI Insight] 2026 Jun 08; Vol. 11 (11). Date of Electronic Publication: 2026 Jun 08 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

Authors: Brownstein CA Madden JA Shao W et al.

Source: Genes [Genes (Basel)] 2026 May 31; Vol. 17 (6). Date of Electronic Publication: 2026 May 31.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Authors: Rockowitz S Shao W French C et al.

Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100582. Date of Electronic Publication: 2026 Feb 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.

Authors: Veatch OJ Mathew J Rockowitz S et al.

Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2025 Jul 11; Vol. 6, pp. 26330040251356521. Date of Electronic Publication: 2025 Jul 11 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons.

Authors: Martinez-Sanchez M Skarnes W Jain A et al.

Source: Genes [Genes (Basel)] 2025 Jan 12; Vol. 16 (1). Date of Electronic Publication: 2025 Jan 12.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Authors: French CE Andrews NC Beggs AH et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 02; Vol. 9 (1), pp. 60. Date of Electronic Publication: 2024 Dec 02.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Genome Sequencing After Exome Sequencing in Pediatric Epilepsy.

Authors: D'Gama AM Shao W Smith L et al.

Source: JAMA neurology [JAMA Neurol] 2024 Dec 01; Vol. 81 (12), pp. 1316-1318.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE; In Process

Neocolonialism and science diplomacy: lessons learned from the field and the way forward.

Authors: Dajani R Bayoumi R Flowe H et al.

Source: Frontiers in public health [Front Public Health] 2024 Nov 12; Vol. 12, pp. 1472421. Date of Electronic Publication: 2024 Nov 12 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Authors: Brownstein CA van der Made CI Cabral K et al.

Corporate Authors: Brownstein CA van der Made CI Cabral K et al.

Source: Advanced genetics (Hoboken, N.J.) [Adv Genet (Hoboken)] 2025 Dec 08; Vol. 6 (4), pp. e00023. Date of Electronic Publication: 2025 Dec 08 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Periodicals Inc Country of Publication: United States NLM ID: 101774320 Publication Model: eCollection Cited Medium: Internet ISSN: 2641-6573 (Electronic) Linking ISSN: 26416573 NLM ISO Abbreviation: Adv Genet (Hoboken) Subsets: PubMed not MEDLINE

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.

Authors: Arnett AB Koesterer R Tovar PG et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Dec; Vol. 27 (12), pp. 101598. Date of Electronic Publication: 2025 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Increased percentages of circulating T follicular helper cells associate with disease subtype and activity in pediatric immune cytopenias.

Authors: Harris EM Bourdine A Magin L et al.

Source: Haematologica [Haematologica] 2025 Oct 16. Date of Electronic Publication: 2025 Oct 16.

Publication Type: Journal Article

Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

Fostering cultural resilience: assessing the success of a locally engaged and adapted mental health intervention in Gaza.

Authors: Rockowitz S Bayoumi R Parr N et al.

Source: Frontiers in public health [Front Public Health] 2024 Jul 16; Vol. 12, pp. 1390211. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Authors: Hildebrandt C Genetti CA Logvinenko T et al.

Source: Neurology. Genetics [Neurol Genet] 2025 Jul 03; Vol. 11 (4), pp. e200277. Date of Electronic Publication: 2025 Jul 03 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.

Authors: Tindula G Issac B Mukherjee SK et al.

Source: Birth defects research [Birth Defects Res] 2024 Mar; Vol. 116 (3), pp. e2331.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

A critical analysis of gender-based violence reporting and evidence building applications (GBVxTech) for capturing memory reports.

Authors: Stevens LM Bennett TC Cotton J et al.

Source: Frontiers in psychology [Front Psychol] 2024 Jan 18; Vol. 14, pp. 1289817. Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101550902 Publication Model: eCollection Cited Medium: Print ISSN: 1664-1078 (Print) Linking ISSN: 16641078 NLM ISO Abbreviation: Front Psychol Subsets: PubMed not MEDLINE

scDown: A Pipeline for Single-Cell RNA-Seq Downstream Analysis.

Authors: Sun L Ma Q Cai C et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 May 30; Vol. 26 (11). Date of Electronic Publication: 2025 May 30.

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

Toward representative genomic research: the children's rare disease cohorts experience.

Authors: Frazier ZJ Brown E Rockowitz S et al.

Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2023 Aug 22; Vol. 4, pp. 26330040231181406. Date of Electronic Publication: 2023 Aug 22 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Authors: Koh HY Smith L Wiltrout KN et al.

Corporate Authors: Koh HY Smith L Wiltrout KN et al.

Source: JAMA network open [JAMA Netw Open] 2023 Jul 03; Vol. 6 (7), pp. e2324380. Date of Electronic Publication: 2023 Jul 03.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE