Margaret Harr

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

Niall J. Lennon, Leah C. Kottyan, Christopher Kachulis et al. · Nature Medicine · 2024 · 189 citations · Full text

Life Sciences, Genetics, Health Informatics +17

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos et al. · European Journal of Human Genetics · 2015 · 155 citations

Medicine, Neurology, Neuroscience +11

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder, Aimee Allworth, Harris T. Bland et al. · Genetics in Medicine · 2023 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16