Search Results - "Singer-Berk M"

Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses.

Authors: Singer‐Berk, M. Knickelbein, K. E. Vig, S. et al.

Source: Animal Genetics. Oct2018, Vol. 49 Issue 5, p457-460. 4p.

Genome Sequencing for Diagnosing Rare Diseases.

Authors: Wojcik, M. H. Lemire, G. Berger, E. et al.

Source: New England Journal of Medicine. 6/6/2024, Vol. 390 Issue 21, p1985-1997. 13p.

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.

Authors: Koch RL Akman HO Chown E et al.

Source: JIMD reports [JIMD Rep] 2026 Apr 06; Vol. 67 (3), pp. e70080. Date of Electronic Publication: 2026 Apr 06 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Authors: Sanchis-Juan A Mostovoy Y Stenton SL et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

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

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Authors: Matalon DR Duker AL Arriaga TM et al.

Corporate Authors: Matalon DR Duker AL Arriaga TM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102633. Date of Electronic Publication: 2026 Jun 19.

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

NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa.

Authors: Kipkemoi P O'Heir E Amin M et al.

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

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Authors: Gudmundsson S Singer-Berk M Stenton SL et al.

Corporate Authors: Gudmundsson S Singer-Berk M Stenton SL et al.

Source: Nature communications [Nat Commun] 2025 Oct 31; Vol. 16 (1), pp. 9623. Date of Electronic Publication: 2025 Oct 31.

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

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Authors: Kurtovic-Kozaric A Singer-Berk M Wood J et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 18; Vol. 19 (1), pp. 388. Date of Electronic Publication: 2024 Oct 18.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Authors: Stenton SL O'Leary MC Lemire G et al.

Source: Human genomics [Hum Genomics] 2024 Apr 29; Vol. 18 (1), pp. 44. Date of Electronic Publication: 2024 Apr 29.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

The landscape of tolerated genetic variation in humans and primates.

Authors: Gao H Hamp T Ede J et al.

Source: Science (New York, N.Y.) [Science] 2023 Jun 02; Vol. 380 (6648), pp. eabn8153. Date of Electronic Publication: 2023 Jun 02.

Publication Type: Dataset; Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Authors: Jurgens JA Barry BJ Chan WM et al.

Corporate Authors: Jurgens JA Barry BJ Chan WM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101216. Date of Electronic Publication: 2024 Jul 18.

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

Variant interpretation using population databases: Lessons from gnomAD.

Authors: Gudmundsson S Singer-Berk M Watts NA et al.

Corporate Authors: Gudmundsson S Singer-Berk M Watts NA et al.

Source: Human mutation [Hum Mutat] 2022 Aug; Vol. 43 (8), pp. 1012-1030. Date of Electronic Publication: 2021 Dec 16.

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

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

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Authors: Gudmundsson S Singer-Berk M Stenton SL et al.

Corporate Authors: Gudmundsson S Singer-Berk M Stenton SL et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 13. Date of Electronic Publication: 2024 Jun 13.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Authors: Lemire G Sanchis-Juan A Russell K et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 863-876. Date of Electronic Publication: 2024 Apr 01.

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

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

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

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Authors: Jurgens JA Barry BJ Chan WM et al.

Corporate Authors: Jurgens JA Barry BJ Chan WM et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 26. Date of Electronic Publication: 2024 Mar 26.

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

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Authors: Goodrich JK Singer-Berk M Son R et al.

Corporate Authors: Goodrich JK Singer-Berk M Son R et al.

Source: Nature communications [Nat Commun] 2021 Jun 09; Vol. 12 (1), pp. 3505. Date of Electronic Publication: 2021 Jun 09.

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

Inferring compound heterozygosity from large-scale exome sequencing data.

Authors: Guo MH Francioli LC Stenton SL et al.

Corporate Authors: Guo MH Francioli LC Stenton SL et al.

Source: Nature genetics [Nat Genet] 2024 Jan; Vol. 56 (1), pp. 152-161. Date of Electronic Publication: 2023 Dec 06.

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

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

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

Authors: Lemire G Sanchis-Juan A Russell K et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 05. Date of Electronic Publication: 2023 Oct 05.

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

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