Search Results - "Merico D"

Reasoning support for risk prediction and prevention in independent living.

Authors: MILEO, A. MERICO, D. BISIANI, R.

Source: Theory & Practice of Logic Programming. 03/01/2011, Vol. 11 Issue 2/3, p361-395. 35p.

S.11.01 Recent advances in the genetics of autism spectrum disorder.

Authors: Marshall, C.R. Tammimies, K. Walker, S. et al.

Source: European Neuropsychopharmacology. Oct2014 Supplement, Vol. 24, pS124-S124. 1p.

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Authors: Merico D Sharfe N Dadi H et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jan 13; Vol. 10 (1), pp. 2. Date of Electronic Publication: 2025 Jan 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Authors: Nahum A Sharfe N Merico D et al.

Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Nov; Vol. 156 (5), pp. 1341-1355. Date of Electronic Publication: 2025 Aug 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Authors: Engchuan W Shanta O Kumar K et al.

Corporate Authors: Engchuan W Shanta O Kumar K et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jul 16. Date of Electronic Publication: 2025 Jul 16.

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

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Authors: Zarrei M Burton CL Engchuan W et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Jul 20; Vol. 32 (15), pp. 2411-2421.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Authors: Chan AJS Engchuan W Reuter MS et al.

Source: Nature communications [Nat Commun] 2022 Oct 29; Vol. 13 (1), pp. 6463. Date of Electronic Publication: 2022 Oct 29.

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

Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders.

Authors: Wainberg M Merico D Huguet G et al.

Source: JAMA psychiatry [JAMA Psychiatry] 2022 Jan 01; Vol. 79 (1), pp. 78-81.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print Cited Medium: Internet ISSN: 2168-6238 (Electronic) Linking ISSN: 2168622X NLM ISO Abbreviation: JAMA Psychiatry Subsets: MEDLINE

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Authors: Merico D Pasternak Y Zarrei M et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2021 Nov 18; Vol. 6 (1), pp. 96. Date of Electronic Publication: 2021 Nov 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Authors: Pasternak Y Vong L Merico D et al.

Source: The journal of allergy and clinical immunology. Global [J Allergy Clin Immunol Glob] 2024 Apr 23; Vol. 3 (3), pp. 100267. Date of Electronic Publication: 2024 Apr 23 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918453488706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2772-8293 (Electronic) Linking ISSN: 27728293 NLM ISO Abbreviation: J Allergy Clin Immunol Glob Subsets: PubMed not MEDLINE

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Authors: Fehlings DL Zarrei M Engchuan W et al.

Source: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 585-594. Date of Electronic Publication: 2024 Mar 29.

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

B cell acute lymphoblastic leukemia cells mediate RANK-RANKL-dependent bone destruction.

Authors: Rajakumar SA Papp E Lee KK et al.

Source: Science translational medicine [Sci Transl Med] 2020 Sep 16; Vol. 12 (561).

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

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Authors: Manshaei R Merico D Reuter MS et al.

Source: Frontiers in genetics [Front Genet] 2020 Sep 15; Vol. 11, pp. 957. Date of Electronic Publication: 2020 Sep 15 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Authors: Bohn E Lau TTY Wagih O et al.

Source: Frontiers in molecular biosciences [Front Mol Biosci] 2023 Sep 08; Vol. 10, pp. 1257550. Date of Electronic Publication: 2023 Sep 08 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

Authors: Merico D Spickett C O'Hara M et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2020 Apr 08; Vol. 5, pp. 16. Date of Electronic Publication: 2020 Apr 08 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Authors: Zarrei M Burton CL Engchuan W et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2019 Oct 07; Vol. 4, pp. 26. Date of Electronic Publication: 2019 Oct 07 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Authors: Shiraishi A Uygun V Sharfe N et al.

Source: Blood [Blood] 2023 Jun 29; Vol. 141 (26), pp. 3226-3230.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Authors: Reuter MS Walker S Thiruvahindrapuram B et al.

Source: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne [CMAJ] 2018 Feb 05; Vol. 190 (5), pp. E126-E136.

Publication Type: Journal Article

Journal Info: Publisher: Canadian Medical Association Country of Publication: Canada NLM ID: 9711805 Publication Model: Print Cited Medium: Internet ISSN: 1488-2329 (Electronic) Linking ISSN: 08203946 NLM ISO Abbreviation: CMAJ Subsets: MEDLINE

Predicting causal genes from psychiatric genome-wide association studies using high-level etiological knowledge.

Authors: Wainberg M Merico D Keller MC et al.

Source: Molecular psychiatry [Mol Psychiatry] 2022 Jul; Vol. 27 (7), pp. 3095-3106. Date of Electronic Publication: 2022 Apr 11.

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

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment.

Authors: Breetvelt EJ Smit KC van Setten J et al.

Source: Biological psychiatry [Biol Psychiatry] 2022 Apr 15; Vol. 91 (8), pp. 718-726. Date of Electronic Publication: 2021 Dec 04.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0213264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2402 (Electronic) Linking ISSN: 00063223 NLM ISO Abbreviation: Biol Psychiatry Subsets: MEDLINE