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European Journal of Medical Genetics|May 6, 2018
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disordersRena J Vanzo, Hope Twede, Karen S Ho, et al.
International Journal of Molecular Sciences|December 13, 2016
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersKaren S Ho, E Robert Wassman, Adrianne L Baxter, et al.
Biomed Research International|December 16, 2016
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersKaren S Ho, Hope Twede, Rena Vanzo, et al.
Epilepsy & Behavior : E&B|February 26, 2018
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndromeKaren S Ho, Leah M Markham, Hope Twede, et al.
Scientific Reports|October 27, 2019
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X TestingCharles H Hensel, Rena J Vanzo, Megan M Martin, et al.
Neurology. Genetics|February 12, 2020
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disordersE Robert Wassman, Karen S Ho, Diana Bertrand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
IEEE Journal of Biomedical and Health Informatics|February 24, 2022
A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory SettingRebecca Mieloszyk, Hope Twede, Jonathan Lester, et al.
American Journal of Medical Genetics. Part A|November 27, 2019
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delayJulián Nevado, Karen S Ho, Marcella Zollino, et al.
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