Search Results - "FitzPatrick DR"

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Authors: Ansari M Halachev M Parry D et al.

Source: Human mutation [Hum Mutat] 2025 Jan 30; Vol. 2025, pp. 4711663. Date of Electronic Publication: 2025 Jan 30 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.

Authors: McDonnell AF Plech M Livesey BJ et al.

Source: Molecular systems biology [Mol Syst Biol] 2024 Jul; Vol. 20 (7), pp. 825-844. Date of Electronic Publication: 2024 Jun 07.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.

Authors: Dorgau B Collin J Rozanska A et al.

Source: Nature communications [Nat Commun] 2024 Apr 26; Vol. 15 (1), pp. 3567. Date of Electronic Publication: 2024 Apr 26.

Publication Type: Journal Article; 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

Increased Rates of Unplanned Return to the Operating Room in Socioeconomically Deprived Orthopaedic Trauma Patient Populations.

Authors: Hideshima KS Goupil J Haffner M et al.

Source: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews [J Am Acad Orthop Surg Glob Res Rev] 2025 Jun 11; Vol. 9 (6). Date of Electronic Publication: 2025 Jun 11 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101724868 Publication Model: eCollection Cited Medium: Internet ISSN: 2474-7661 (Electronic) Linking ISSN: 24747661 NLM ISO Abbreviation: J Am Acad Orthop Surg Glob Res Rev Subsets: MEDLINE

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: ArXiv [ArXiv] 2025 Feb 10. Date of Electronic Publication: 2025 Feb 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

Clinical and Radiographic Outcomes of Small Caliber Intramedullary Nails for Tibial Shaft Fractures.

Authors: Tse S Saade A Simister SK et al.

Source: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews [J Am Acad Orthop Surg Glob Res Rev] 2025 Jan 29; Vol. 9 (2). Date of Electronic Publication: 2025 Jan 29 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101724868 Publication Model: eCollection Cited Medium: Internet ISSN: 2474-7661 (Electronic) Linking ISSN: 24747661 NLM ISO Abbreviation: J Am Acad Orthop Surg Glob Res Rev Subsets: MEDLINE

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

Authors: Hall HN Bengani H Hufnagel RB et al.

Source: PloS one [PLoS One] 2022 Nov 22; Vol. 17 (11), pp. e0268149. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2022).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse.

Authors: Hernandez-Moran BA Papanastasiou AS Parry D et al.

Source: Genes [Genes (Basel)] 2022 Oct 05; Vol. 13 (10). Date of Electronic Publication: 2022 Oct 05.

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

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

A human embryonic limb cell atlas resolved in space and time.

Authors: Zhang B He P Lawrence JEG et al.

Source: Nature [Nature] 2024 Nov; Vol. 635 (8039), pp. 668-678. Date of Electronic Publication: 2023 Dec 06.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Comparing Multipin Clamps With Outriggers With Standard Clamps for Lower Extremity Periarticular External Fixation: Similar Radiographic and Clinical Outcomes.

Authors: Tse S Saade A Ikwuezunma I et al.

Source: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews [J Am Acad Orthop Surg Glob Res Rev] 2024 Oct 11; Vol. 8 (10). Date of Electronic Publication: 2024 Oct 11 (Print Publication: 2024).

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101724868 Publication Model: eCollection Cited Medium: Internet ISSN: 2474-7661 (Electronic) Linking ISSN: 24747661 NLM ISO Abbreviation: J Am Acad Orthop Surg Glob Res Rev Subsets: MEDLINE

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Authors: Wright CF Prigmore E Rajan D et al.

Source: Nature communications [Nat Commun] 2022 Sep 27; Vol. 13 (1), pp. 5674. Date of Electronic Publication: 2022 Sep 27.

Publication Type: Published Erratum

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; PubMed not MEDLINE

Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.

Authors: Yates TM Lain A Campbell J et al.

Source: Database : the journal of biological databases and curation [Database (Oxford)] 2022 Jun 07; Vol. 2022.

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

Journal Info: Publisher: Oxford Journals Country of Publication: England NLM ID: 101517697 Publication Model: Print Cited Medium: Internet ISSN: 1758-0463 (Electronic) Linking ISSN: 17580463 NLM ISO Abbreviation: Database (Oxford) Subsets: MEDLINE

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Authors: Bengani H Grozeva D Moyon L et al.

Source: PloS one [PLoS One] 2021 Aug 13; Vol. 16 (8), pp. e0256181. Date of Electronic Publication: 2021 Aug 13 (Print Publication: 2021).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Authors: Ansari M Faour KNW Shimamura A et al.

Source: HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100273. Date of Electronic Publication: 2024 Jan 30.

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

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Authors: Hall HN Parry D Halachev M et al.

Source: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 250-261. Date of Electronic Publication: 2024 Feb 21.

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

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.

Authors: Olley G Pradeepa MM Grimes GR et al.

Source: Nature communications [Nat Commun] 2021 May 25; Vol. 12 (1), pp. 3127. Date of Electronic Publication: 2021 May 25.

Publication Type: Journal Article; 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

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Authors: van Woerden GM Bos M de Konink C et al.

Source: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 445-459. Date of Electronic Publication: 2021 Mar 01.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

The contribution of X-linked coding variation to severe developmental disorders.

Authors: Martin HC Gardner EJ Samocha KE et al.

Corporate Authors: Martin HC Gardner EJ Samocha KE et al.

Source: Nature communications [Nat Commun] 2021 Jan 27; Vol. 12 (1), pp. 627. Date of Electronic Publication: 2021 Jan 27.

Publication Type: Journal Article; 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

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: Brain : a journal of neurology [Brain] 2020 Dec 05; Vol. 143 (11), pp. 3242-3261.

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

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

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Authors: Ansari M Faour KNW Shimamura A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.

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