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1.
A primer on the use of machine learning to distil knowledge from data in biological psychiatry.
Mol Psychiatry
; 29(2): 387-401, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38177352
2.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Article
in English
| MEDLINE | ID: mdl-38216926
3.
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
Am J Med Genet A
; 191(9): 2416-2421, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37248744
4.
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.
Qual Life Res
; 32(8): 2319-2328, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37002464
5.
Machine learning and bioinformatic analysis of brain and blood mRNA profiles in major depressive disorder: A case-control study.
Am J Med Genet B Neuropsychiatr Genet
; 186(2): 101-112, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33645908
6.
Machine Learning Analysis of Blood microRNA Data in Major Depression: A Case-Control Study for Biomarker Discovery.
Int J Neuropsychopharmacol
; 23(8): 505-510, 2020 11 26.
Article
in English
| MEDLINE | ID: mdl-32365192
7.
Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.
BMC Psychiatry
; 20(1): 92, 2020 02 28.
Article
in English
| MEDLINE | ID: mdl-32111185
8.
Machine learning in schizophrenia genomics, a case-control study using 5,090 exomes.
Am J Med Genet B Neuropsychiatr Genet
; 180(2): 103-112, 2019 03.
Article
in English
| MEDLINE | ID: mdl-29704323
9.
Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review.
Am J Med Genet B Neuropsychiatr Genet
; 180(2): 122-137, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30411484
10.
Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.
J Inherit Metab Dis
; 41(4): 613-621, 2018 07.
Article
in English
| MEDLINE | ID: mdl-28210873
11.
Metabolomics in patients with psychosis: A systematic review.
Am J Med Genet B Neuropsychiatr Genet
; 177(6): 580-588, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30076730
12.
Prevalence of four Mendelian disorders associated with autism in 2392 affected families.
J Hum Genet
; 62(6): 657-659, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28250423
13.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
J Inherit Metab Dis
; 39(1): 139-47, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26209272
14.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
BMC Pediatr
; 15: 7, 2015 Feb 13.
Article
in English
| MEDLINE | ID: mdl-25886474
15.
SHANK3 Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features.
J Neuropsychiatry Clin Neurosci
; 31(3): 272-275, 2019.
Article
in English
| MEDLINE | ID: mdl-30888922
16.
Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
J Neurosurg Pediatr
; 31(6): 584-592, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36905673
17.
Paper II: thematic framework analysis of registry-based randomized controlled trials provided insights for designing trial ready registries.
J Clin Epidemiol
; 159: 330-343, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37146660
18.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Article
in English
| MEDLINE | ID: mdl-37256937
19.
Transcriptomics and machine learning to advance schizophrenia genetics: A case-control study using post-mortem brain data.
Comput Methods Programs Biomed
; 214: 106590, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34954633
20.
Could distal variants in ALG13 lead to atypical clinical presentation?
Eur J Med Genet
; 65(4): 104473, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35240324