Search Results - "Conboy E"

686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome.

Authors: Silverstein, S. Donkervoort, S. Cassini, T. et al.

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

Prevention of glucocorticoid-induced osteoporosis: experience in a managed care setting.

Authors: Yood RA Harrold LR Fish L et al.

Source: Archives of Internal Medicine. 5/28/2001, Vol. 161 Issue 10, p1322-1327. 6p.

URL: 4994861

What Are Ethical Merits and Drawbacks of Viewing "Medical Mysteries" as Human Subject Research?

Authors: Doyle TA Conboy E

Source: AMA journal of ethics [AMA J Ethics] 2025 Oct 10; Vol. 27 (10), pp. E718-725. Date of Electronic Publication: 2025 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101649265 Publication Model: Electronic Cited Medium: Internet ISSN: 2376-6980 (Electronic) Linking ISSN: 23766980 NLM ISO Abbreviation: AMA J Ethics Subsets: MEDLINE

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Authors: Fielder SM Friederich MW Hock DH et al.

Corporate Authors: Fielder SM Friederich MW Hock DH et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2562-2585. Date of Electronic Publication: 2025 Aug 26.

Publication Type: Journal Article

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

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.

Authors: Liaqat K Treat K Mantcheva L et al.

Source: Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 109-111. Date of Electronic Publication: 2025 Mar 28.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

Authors: Silverstein S Nguyen AD Orbach R et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Apr 29. Date of Electronic Publication: 2026 Apr 29.

Publication Type: Journal Article; Preprint

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

A review of the genetics and clinical manifestations of Donnai-Barrow syndrome.

Authors: Lockwood T Knight T Conboy E

Source: Ophthalmic genetics [Ophthalmic Genet] 2026 Feb 18, pp. 1-5. Date of Electronic Publication: 2026 Feb 18.

Publication Type: Journal Article; Review

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

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Authors: Willim J Woike D Greene D et al.

Corporate Authors: Willim J Woike D Greene D et al.

Source: Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10.

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

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

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Authors: Bruns R Liaqat K Nasir A et al.

Source: Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 155-160. Date of Electronic Publication: 2024 Mar 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.

Authors: Liaqat K Treat K Mantcheva L et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63499. Date of Electronic Publication: 2023 Dec 22.

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

Physiological, perceptual and neuromuscular responses of team sport athletes to short duration high intensity interval training using cycling.

Authors: Twist C Conboy E Davidson M et al.

Source: European journal of applied physiology [Eur J Appl Physiol] 2025 Oct; Vol. 125 (10), pp. 3009-3015. Date of Electronic Publication: 2025 May 12.

Publication Type: Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 100954790 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-6327 (Electronic) Linking ISSN: 14396319 NLM ISO Abbreviation: Eur J Appl Physiol Subsets: MEDLINE

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Authors: Zech M Dzinovic I Skorvanek M et al.

Source: Brain : a journal of neurology [Brain] 2025 Aug 01; Vol. 148 (8), pp. 2827-2846.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Authors: Booth KTA Jangam SV Chui MMC et al.

Source: Brain : a journal of neurology [Brain] 2025 Aug 01; Vol. 148 (8), pp. 2658-2670.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Authors: Liaqat K Treat K Wilson TE et al.

Source: Clinical genetics [Clin Genet] 2024 Apr; Vol. 105 (4), pp. 455-456. Date of Electronic Publication: 2024 Feb 12.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Authors: Knox AVC Cominsky LY Sun D et al.

Source: Blood [Blood] 2025 May 29; Vol. 145 (22), pp. 2549-2560.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.

Authors: Gregory MR Liaqat K Treat K et al.

Source: Case reports in genetics [Case Rep Genet] 2025 May 27; Vol. 2025, pp. 3466358. Date of Electronic Publication: 2025 May 27 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: PubMed not MEDLINE

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Authors: Koop K Yuan W Tessadori F et al.

Corporate Authors: Koop K Yuan W Tessadori F et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Oct 17; Vol. 32 (21), pp. 3063-3077.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease.

Authors: Gage H Wetherill L Anderson K et al.

Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Aug; Vol. 44 (4), pp. 371-378. Date of Electronic Publication: 2023 May 12.

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

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

A familial SAMD9 variant present in pediatric myelodysplastic syndrome.

Authors: Rahim MQ Rahrig A Overholt K et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 May 09; Vol. 9 (2). Date of Electronic Publication: 2023 May 09 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

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

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

Authors: Liaqat K Felipe K Treat K et al.

Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2025 Apr; Vol. 29 (4), pp. 120-128.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE