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Agricola

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Agricola

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Expanding the phenotypic spectrum of NOTCH1variants: clinical manifestations in families with congenital heart disease

• Authors : Stanley, Kaitlin J.; Kalbfleisch, Kelsey J.; Moran, Olivia M.

• Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

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Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot

• Authors : Bassett, Anne S.; Reuter, Miriam S.; Malecki, Sarah

• Source: CJC Pediatric and Congenital Heart Disease; December 2023, Vol. 2 Issue: 6 p426-439, 14p

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Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling.

• Authors : Reuter, Miriam S.; Sokolowski, Dustin J.; Javier Diaz-Mejia, J.

Subjects: FETAL heart; HEART; TISSUE remodeling

• Source: Communications Biology; 7/22/2023, Vol. 6 Issue 1, p1-14, 14p

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Pharmacogenetic profiling via genome sequencing in children with medical complexity.

• Authors : Pan, Amy; Scodellaro, Sierra; Khan, Tayyaba

• Source: Pediatric Research; Mar2023, Vol. 93 Issue 4, p905-910, 6p

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

• Authors : Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma

• Source: CMAJ: Canadian Medical Association Journal. February 5, 2018, Vol. 190 Issue 5, , E126, p11 p.

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

• Authors : Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.

• Source: Orphanet Journal of Rare Diseases. March 18, 2021, Vol. 16 Issue 1.

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

• Authors : Chan, Ada J. S.; Engchuan, Worrawat; Reuter, Miriam S.

Subjects: AUTISM spectrum disorders; NUCLEOTIDE sequencing; CONGENITAL disorders

• Source: Nature Communications; 10/29/2022, Vol. 13 Issue 1, p1-16, 16p

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

• Authors : Meyer, Esther; Carss, Keren J; Rankin, Julia

• Source: Nature Genetics. February, 2017, Vol. 49 Issue 2, p223, 15 p.

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