Search Results - "Cohn RD"

Dust weight and asthma prevalence in the National Survey of Lead and Allergens in Housing (NSLAH)

Authors: Elliott L Arbes SJ Jr. Harvey ES et al.

Source: Environmental Health Perspectives. Feb2007, Vol. 115 Issue 2, p215-220. 6p.

URL: 24222572

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Authors: Cohn RD Eklund E Bergner AL et al.

Source: Pediatrics. Aug2006, Vol. 118 Issue 2, pe514-21. 1p.

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

Authors: Mollica A Omer S Forguson G et al.

Source: Nature communications [Nat Commun] 2025 Nov 27; Vol. 16 (1), pp. 10637. Date of Electronic Publication: 2025 Nov 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Authors: Hou H Yuki KE Costain G et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 01; Vol. 10 (1), pp. 51. Date of Electronic Publication: 2025 Jul 01.

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

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Authors: Howell KB White SM McTague A et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Feb 27; Vol. 10 (1), pp. 13. Date of Electronic Publication: 2025 Feb 27.

Publication Type: Journal Article; Review

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

Pediatric Clinician Adherence to Peanut Allergy Prevention Guidelines: A Randomized Trial.

Authors: Gupta RS Bilaver LA Jiang J et al.

Source: Pediatrics [Pediatrics] 2025 Nov 01; Vol. 156 (5).

Publication Type: Journal Article; Randomized Controlled Trial; Multicenter Study

Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Authors: Asadollahi R Ahmad A Boonsawat P et al.

Source: Nature genetics [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.

Authors: Perillat LOM Wong TWY Maino E et al.

Source: Disease models & mechanisms [Dis Model Mech] 2025 Oct 01; Vol. 18 (10). Date of Electronic Publication: 2025 Sep 29.

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

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy.

Authors: Fatehi S Rok MJ Marks RM et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2025 Aug 06; Vol. 33 (8), pp. 3733-3745. Date of Electronic Publication: 2025 May 07.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

Correction: A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy.

Authors: Wai T Wong Y Ahmed A et al.

Source: Disease models & mechanisms [Dis Model Mech] 2025 Apr 01; Vol. 18 (4). Date of Electronic Publication: 2025 Apr 04.

Publication Type: Published Erratum

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE; PubMed not MEDLINE

The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.

Authors: Scott O Visuvanathan S Reddy E et al.

Source: Frontiers in immunology [Front Immunol] 2023 May 19; Vol. 14, pp. 1183273. Date of Electronic Publication: 2023 May 19 (Print Publication: 2023).

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

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication.

Authors: Rizvi SZ Chan WS Maino E et al.

Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2024 Oct 09; Vol. 35 (4), pp. 102356. Date of Electronic Publication: 2024 Oct 09 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Authors: Morton SU Christodoulou J Costain G et al.

Source: JAMA neurology [JAMA Neurol] 2022 Apr 01; Vol. 79 (4), pp. 405-413.

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

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

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.

Authors: Maino E Scott O Rizvi SZ et al.

Source: Disease models & mechanisms [Dis Model Mech] 2024 Jul 01; Vol. 17 (7). Date of Electronic Publication: 2024 Jul 23.

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

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Editorial: Current Insights Into LAMA2 Disease.

Authors: Previtali SC Cohn RD Ruegg MA

Source: Frontiers in molecular neuroscience [Front Mol Neurosci] 2021 Nov 18; Vol. 14, pp. 780635. Date of Electronic Publication: 2021 Nov 18 (Print Publication: 2021).

Publication Type: Editorial

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

Genome sequencing as a diagnostic test.

Authors: Costain G Cohn RD Scherer SW et al.

Source: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne [CMAJ] 2021 Oct 25; Vol. 193 (42), pp. E1626-E1629.

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

Journal Info: Publisher: Canadian Medical Association Country of Publication: Canada NLM ID: 9711805 Publication Model: Print Cited Medium: Internet ISSN: 1488-2329 (Electronic) Linking ISSN: 08203946 NLM ISO Abbreviation: CMAJ Subsets: MEDLINE

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Authors: Zhu AY Costain G Cytrynbaum C et al.

Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Oct; Vol. 42 (5), pp. 624-630. Date of Electronic Publication: 2021 May 14.

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

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

An optimized toolkit for prime editing.

Authors: Marks RM Scott O Ivakine EA et al.

Source: Nature biotechnology [Nat Biotechnol] 2024 Feb; Vol. 42 (2), pp. 187-189.

Publication Type: Journal Article

Journal Info: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE; PubMed not MEDLINE

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.

Authors: Scott O Lindsay K Erwood S et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2021 May 14; Vol. 6 (1), pp. 34. Date of Electronic Publication: 2021 May 14.

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

Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression.

Authors: Maino E Wojtal D Evagelou SL et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2021 May 07; Vol. 13 (5), pp. e13228. Date of Electronic Publication: 2021 Mar 16.

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

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE