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 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

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 · 211 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

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 · 166 citations · Full text

Disease Management, Patient Selection, Polygenic Risk +18

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 · 150 citations · Full text

Intellectual Impairment, Speech Impairment, New Recognizable Syndrome +8

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Hana Zouk, Eric Venner, Niall J. Lennon et al. · The American Journal of Human Genetics · 2019 · 114 citations · Full text

Bioinformatics, Functional Genomics, Engineering +14