Search Results - "Zarate YA"

Fabry's disease.

Authors: Zarate YA Hopkin RJ

Source: Lancet. 10/18/2008, Vol. 372 Issue 9647, p1427-1435. 9p.

Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability.

Authors: Gaasterland CMW Klein Haneveld MJ Tinselboer BM et al.

Source: Journal of clinical epidemiology [J Clin Epidemiol] 2026 May; Vol. 193, pp. 112187. Date of Electronic Publication: 2026 Feb 19.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8801383 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5921 (Electronic) Linking ISSN: 08954356 NLM ISO Abbreviation: J Clin Epidemiol Subsets: MEDLINE

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Authors: Edoh E Mighton C Broeren E et al.

Corporate Authors: Edoh E Mighton C Broeren E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr 29, pp. 102587. Date of Electronic Publication: 2026 Apr 29.

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

Familial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.

Authors: Honaker E Birkhead A Guillen K et al.

Source: JBMR plus [JBMR Plus] 2025 May 08; Vol. 9 (6), pp. ziaf055. Date of Electronic Publication: 2025 May 08 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Authors: Brünger T Krey I Kim S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 06. Date of Electronic Publication: 2026 Mar 06.

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

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.

Authors: den Hoed J Semmekrot F Verseput J et al.

Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100537. Date of Electronic Publication: 2025 Oct 25.

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

Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.

Authors: Collu R Zarate YA Xia W et al.

Source: Metabolic brain disease [Metab Brain Dis] 2024 Nov 14; Vol. 40 (1), pp. 3. Date of Electronic Publication: 2024 Nov 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

Listening to patients with suspected genetic diagnoses: A narrative perspective.

Authors: Slocum RB Hurst ACE Shelley E et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Nov; Vol. 196 (2-3), pp. e32079. Date of Electronic Publication: 2023 Dec 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE; In Process

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Authors: Zarate YA Abdelmoti L Oh S et al.

Source: Clinical genetics [Clin Genet] 2025 Dec; Vol. 108 (6), pp. 713-719. Date of Electronic Publication: 2025 May 27.

Publication Type: Journal Article; Case Reports

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 clinical and genotype-phenotype analysis of MACF1 variants.

Authors: Dekker J Schot R Aldinger KA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.

Authors: Zarate YA Bosanko K Derar N et al.

Source: Clinical genetics [Clin Genet] 2024 Aug; Vol. 106 (2), pp. 209-213. Date of Electronic Publication: 2024 May 01.

Publication Type: Journal Article

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

Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.

Authors: Zarate YA Bosanko K Andres A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 203-210. Date of Electronic Publication: 2023 Oct 02.

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

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Authors: Mak CCY Klinkhammer H Choufani S et al.

Source: EBioMedicine [EBioMedicine] 2025 May; Vol. 115, pp. 105677. Date of Electronic Publication: 2025 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.

Authors: Zarate YA Bosanko K Kannan A et al.

Source: Human mutation [Hum Mutat] 2023 Apr 26; Vol. 2023, pp. 8200176. Date of Electronic Publication: 2023 Apr 26 (Print Publication: 2023).

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

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Authors: AlAbdi L Desbois M Rusnac DV et al.

Corporate Authors: AlAbdi L Desbois M Rusnac DV et al.

Source: Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1373-1387.

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

Growth in individuals with SATB2-associated syndrome.

Authors: Zarate YA Kannan A Bosanko KA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2952-2957. Date of Electronic Publication: 2022 Jul 15.

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

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.

Authors: den Hoed J Hashimoto H Khan M et al.

Source: Journal of medical genetics [J Med Genet] 2024 Oct 23; Vol. 61 (11), pp. 1062-1067. Date of Electronic Publication: 2024 Oct 23.

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

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Authors: Lesmann H Hustinx A Moosa S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.

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

Craniosynostosis is a feature of Costello syndrome.

Authors: Weaver KN Care M Wakefield E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1280-1286. Date of Electronic Publication: 2021 Dec 28.

Publication Type: Case Reports; 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

Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.

Authors: Inskeep KA Zarate YA Monteil D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 104-115. Date of Electronic Publication: 2021 Sep 15.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; 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