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Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Journal article

Allouba M. et al, (2023), Eur Heart J

Not all exons are protein coding: Addressing a common misconception

Journal article

Aspden JL. et al, (2023), Cell Genomics, 3, 100296 - 100296

2022 Curt Stern Award introduction: Heidi Rehm.

Journal article

Whiffin N., (2023), Am J Hum Genet, 110

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal article

Ellingford JM. et al, (2022), Genome medicine, 14

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.

Journal article

Rowlands CF. et al, (2022), American journal of human genetics, 109, 210 - 222

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.

Journal article

Cubuk C. et al, (2021), Genetics in medicine : official journal of the American College of Medical Genetics, 23, 2096 - 2104

New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Journal article

Aguib Y. et al, (2021), Circulation, 144, 754 - 757

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

Journal article

Wright CF. et al, (2021), American journal of human genetics, 108, 1083 - 1094

Author Correction: The effect of LRRK2 loss-of-function variants in humans.

Journal article

Whiffin N. et al, (2021), Nature medicine, 27

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