Search Results - "Hunter MF"

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.

Authors: Loh M Schildkraut T Byrnes A et al.

Source: Internal medicine journal [Intern Med J] 2024 Dec; Vol. 54 (12), pp. 2015-2026. Date of Electronic Publication: 2024 Oct 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 101092952 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1445-5994 (Electronic) Linking ISSN: 14440903 NLM ISO Abbreviation: Intern Med J Subsets: MEDLINE

Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature.

Authors: Tan L Young SG Sinclair AH et al.

Source: BMC medical genomics [BMC Med Genomics] 2024 Aug 05; Vol. 17 (1), pp. 195. Date of Electronic Publication: 2024 Aug 05.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Diagnostic findings and yield of investigations for children with developmental regression.

Authors: Furley K Hunter MF Fahey M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63607. Date of Electronic Publication: 2024 Mar 27.

Publication Type: 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

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Authors: Ball M Bouffler SE Barnett CB et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. Date of Electronic Publication: 2024 Oct 15.

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

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Authors: Baker EK Arpone M Bui M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 357-369. Date of Electronic Publication: 2022 Nov 08.

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

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 diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Authors: Fennell AP Baxter AE Berkovic SF et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3432-3447. Date of Electronic Publication: 2022 Aug 17.

Publication Type: 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

Enhanced Age-Dependent Motor Impairment in Males of Drosophila melanogaster Modeling Spinocerebellar Ataxia Type 1 Is Linked to Dysregulation of a Matrix Metalloproteinase.

Authors: Palmer EM Snoddy CA York PM et al.

Source: Biology [Biology (Basel)] 2024 Oct 23; Vol. 13 (11). Date of Electronic Publication: 2024 Oct 23.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Authors: Dias KR Shrestha R Schofield D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101076. Date of Electronic Publication: 2024 Jan 19.

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

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

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Authors: Szot JO Cuny H Martin EM et al.

Source: The Journal of clinical investigation [J Clin Invest] 2024 Feb 15; Vol. 134 (4). Date of Electronic Publication: 2024 Feb 15.

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Authors: Akesson LS Bournazos A Fennell A et al.

Source: Human mutation [Hum Mutat] 2020 Nov; Vol. 41 (11), pp. 1884-1891. Date of Electronic Publication: 2020 Sep 09.

Publication Type: Case Reports; 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

Developmental regression in children: Current and future directions.

Authors: Furley K Mehra C Goin-Kochel RP et al.

Source: Cortex; a journal devoted to the study of the nervous system and behavior [Cortex] 2023 Dec; Vol. 169, pp. 5-17. Date of Electronic Publication: 2023 Sep 27.

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

Journal Info: Publisher: Masson Country of Publication: Italy NLM ID: 0100725 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1973-8102 (Electronic) Linking ISSN: 00109452 NLM ISO Abbreviation: Cortex Subsets: MEDLINE

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Authors: Lunke S Bouffler SE Patel CV et al.

Source: Nature medicine [Nat Med] 2023 Jul; Vol. 29 (7), pp. 1681-1691. Date of Electronic Publication: 2023 Jun 08.

Publication Type: Journal Article; 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

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors: Lunke S Eggers S Wilson M et al.

Corporate Authors: Lunke S Eggers S Wilson M et al.

Source: JAMA [JAMA] 2020 Jun 23; Vol. 323 (24), pp. 2503-2511.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

Authors: Arpone M Bretherton L Amor DJ et al.

Source: Research in developmental disabilities [Res Dev Disabil] 2022 Dec; Vol. 131, pp. 104338. Date of Electronic Publication: 2022 Sep 28.

Publication Type: Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8709782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3379 (Electronic) Linking ISSN: 08914222 NLM ISO Abbreviation: Res Dev Disabil Subsets: MEDLINE

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.

Authors: Goranitis I Wu Y Lunke S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 May; Vol. 24 (5), pp. 1037-1044. Date of Electronic Publication: 2022 Feb 16.

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

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Authors: Bournazos AM Riley LG Bommireddipalli S et al.

Corporate Authors: Bournazos AM Riley LG Bommireddipalli S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30.

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

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

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Authors: Eggers S Sadedin S van den Bergen JA et al.

Source: Genome biology [Genome Biol] 2016 Nov 29; Vol. 17 (1), pp. 243. Date of Electronic Publication: 2016 Nov 29.

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

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Authors: Hood RL McGillivray G Hunter MF et al.

Corporate Authors: Hood RL McGillivray G Hunter MF et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Feb; Vol. 170A (2), pp. 531-535. Date of Electronic Publication: 2015 Nov 27.

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

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

Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Authors: Downie L Halliday J Burt R et al.

Corporate Authors: Downie L Halliday J Burt R et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Feb; Vol. 29 (2), pp. 363.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.

Authors: Yeung A Tan NB Tan TY et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Dec; Vol. 22 (12), pp. 1986-1993. Date of Electronic Publication: 2020 Aug 10.

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

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