Child | Broad Institute

Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study.

Breinbjerg A, Jørgensen CS, Walters B, et al. Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study. The Journal of urology. 2024:101097JU0000000000004187. doi:10.1097/JU.0000000000004187PubMed DOI Google Scholar

Resistance, rebound, and recurrence regrowth patterns in pediatric low-grade glioma treated by MAPK inhibition: A modified Delphi approach to build international consensus-based definitions-International Pediatric Low-Grade Glioma Coalition.

O’Hare P, Cooney T, de Blank P, et al. Resistance, rebound, and recurrence regrowth patterns in pediatric low-grade glioma treated by MAPK inhibition: A modified Delphi approach to build international consensus-based definitions-International Pediatric Low-Grade Glioma Coalition. Neuro-oncology. 2024. doi:10.1093/neuonc/noae074PubMed DOI Google Scholar

Childhood seizures and risk of psychiatric disorders in adolescence and early adulthood: a Danish nationwide cohort study.

Dreier JW, Pedersen CB, Cotsapas C, Christensen J. Childhood seizures and risk of psychiatric disorders in adolescence and early adulthood: a Danish nationwide cohort study. Lancet Child Adolesc Health. 2019;3(2):99-108. doi:10.1016/S2352-4642(18)30351-1PubMed DOI Google Scholar

Single-cell profiling of environmental enteropathy reveals signatures of epithelial remodeling and immune activation.

Kummerlowe C, Mwakamui S, Hughes TK, et al. Single-cell profiling of environmental enteropathy reveals signatures of epithelial remodeling and immune activation. Sci Transl Med. 2022;14(660):eabi8633. doi:10.1126/scitranslmed.abi8633Google Scholar PubMed DOI

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018;103(6):1009-1021. doi:10.1016/j.ajhg.2018.10.019PubMed DOI Google Scholar

Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms.

Kurtelius A, Kurki MI, Fraunberg M von UZ, et al. Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms. Neuroepidemiology. 2019;52(1-2):47-54. doi:10.1159/000493856PubMed DOI Google Scholar

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil R, Kenny C, Hill S, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018;177(8):736-745. doi:10.1002/ajmg.b.32688PubMed DOI Google Scholar

Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade.

Kaur G, Porter CBM, Ashenberg O, et al. Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade. Nat Commun. 2022;13(1):4398. doi:10.1038/s41467-022-32171-wGoogle Scholar PubMed DOI

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, et al. A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts. Eur J Hum Genet. 2019;27(3):432-441. doi:10.1038/s41431-018-0297-xPubMed DOI Google Scholar

A biobank of patient-derived pediatric brain tumor models.

Brabetz S, Leary SES, Gröbner SN, et al. A biobank of patient-derived pediatric brain tumor models. Nat Med. 2018;24(11):1752-1761. doi:10.1038/s41591-018-0207-3PubMed DOI Google Scholar