Search Results - "Martin HC"

Author Correction: The power of genetic diversity in genome-wide association studies of lipids.

Authors: Graham SE Clarke SL Wu KH et al.

Corporate Authors: Graham SE Clarke SL Wu KH et al.

Source: Nature [Nature] 2023 Jun; Vol. 618 (7965), pp. E19-E20.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Authors: Hwang, Soojin Seo, Go Hun Choi, In Hee et al.

Source: Clinical & Translational Medicine. Jul2025, Vol. 15 Issue 7, p1-7. 7p.

Author Correction: Evaluating drug targets through human loss-of-function genetic variation.

Authors: Minikel EV Karczewski KJ Martin HC et al.

Corporate Authors: Minikel EV Karczewski KJ Martin HC et al.

Source: Nature [Nature] 2021 Feb; Vol. 590 (7846), pp. E56.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Authors: Kim HI DeBoever C Walter K et al.

Corporate Authors: Kim HI DeBoever C Walter K et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 821-830. Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

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

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.

Authors: Wootton O Campbell P Richardson S et al.

Source: Genome medicine [Genome Med] 2025 Oct 30; Vol. 17 (1), pp. 134. Date of Electronic Publication: 2025 Oct 30.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra.

Authors: Garcia-Salinas OI Hwang S Huang QQ et al.

Source: Nature communications [Nat Commun] 2025 May 15; Vol. 16 (1), pp. 4527. Date of Electronic Publication: 2025 May 15.

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

This result is not displayed to guests.
Login for full access.

A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus.

Authors: Aivazidis A Memi F Rademaker K et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Nov 06. Date of Electronic Publication: 2025 Nov 06.

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

Somatic mutation and selection at population scale.

Authors: Lawson ARJ Abascal F Nicola PA et al.

Source: Nature [Nature] 2025 Nov; Vol. 647 (8089), pp. 411-420. Date of Electronic Publication: 2025 Oct 08.

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

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

Polygenic and developmental profiles of autism differ by age at diagnosis.

Authors: Zhang X Grove J Gu Y et al.

Corporate Authors: Zhang X Grove J Gu Y et al.

Source: Nature [Nature] 2025 Oct; Vol. 646 (8087), pp. 1146-1155. Date of Electronic Publication: 2025 Oct 01.

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

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

Unraveling the metabolic potential and roles of reductases in the omicsynin biosynthetic gene cluster.

Authors: Li, Yihong Fu, Jie Sun, Hongmin et al.

Source: Natural Products & Bioprospecting. 1/9/2026, Vol. 16 Issue 1, p1-12. 12p.

Régulation de l'érythropoïétine et érythrocytoses : nouvelles perspectives physiopathologiques.

Authors: Delamare, Marine Idriss, Salam Hoogewijs, David et al.

Source: Hematologie. jan/feb2026, Vol. 32 Issue 1, p49-59. 11p.

Association of germline variants in the ZFX gene with primary hyperparathyroidism.

Authors: Aranaga-Decori, Ainhoa Camille González, Pedro Gómez-Conde, Sara et al.

Source: PLoS ONE. 8/8/2025, Vol. 20 Issue 8, p1-8. 8p.

Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP.

Authors: Khan, Muhammad Riaz Akbari, Arvand Nicholas, Thomas J. et al.

Source: Andrology. Jul2025, Vol. 13 Issue 5, p1093-1104. 12p.

Human genetic evidence enriched for side effects of approved drugs.

Authors: Minikel, Eric Vallabh Nelson, Matthew R.

Source: PLoS Genetics. 3/31/2025, Vol. 21 Issue 3, p1-13. 13p.

Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.

Authors: Vendrig, Lisanne M. ten Hoor, Mayke A. C. König, Benthe H. et al.

Source: Pediatric Nephrology. Mar2025, Vol. 40 Issue 3, p685-699. 15p.

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.

Authors: Matsushita, Kazuyuki Ishige, Takayuki Watanabe, Kousuke et al.

Source: Scientific Reports. 1/7/2025, Vol. 14 Issue 1, p1-12. 12p.

The SNAP25 gene emerges as a pivotal player in shaping well-being levels not only among Indians but also on a global scale.

Authors: Dhauria, Mrinmay Pyne, Tushar Nandagopal, Krishnadas et al.

Source: Nucleus (0029568X). Dec2025, Vol. 68 Issue 3, p645-657. 13p.

The Evolution of Finite Element Approaches in Reaction-Diffusion Modeling.

Authors: Sharma, Rohit Yadav, Om Prakash

Source: Archives of Computational Methods in Engineering; Jun2025, Vol. 32 Issue 5, p2745-2766, 22p