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Lori H. Handley
Lori H. Handley
Verified email at hudsonalpha.org
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Year
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1772017
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1592017
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
1142017
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
922018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ...
Genetics in Medicine 21 (1), 161-172, 2019
772019
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
722018
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ...
The American Journal of Human Genetics 104 (1), 164-178, 2019
712019
De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ...
The American Journal of Human Genetics 99 (4), 991-999, 2016
682016
A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay
K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ...
The American Journal of Human Genetics 100 (2), 343-351, 2017
482017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
LDM Pena, YH Jiang, K Schoch, RC Spillmann, N Walley, N Stong, ...
Genetics in medicine 20 (4), 464-469, 2018
472018
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
SM Hiatt, JMJ Lawlor, LH Handley, RC Ramaker, BB Rogers, ...
Human Genetics and Genomics Advances 2 (2), 2021
442021
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
TA Cassini, L Duncan, LC Rives, JH Newman, JA Phillips, ME Koziura, ...
Molecular Genetics & Genomic Medicine 7 (6), e00676, 2019
192019
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
JH Newman, A Shaver, JH Sheehan, S Mallal, JH Stone, S Pillai, ...
Molecular genetics & genomic medicine 7 (6), e686, 2019
102019
Convergent evolution and horizontal gene transfer in Arctic Ocean microalgae
RG Dorrell, A Kuo, Z Füssy, EH Richardson, A Salamov, N Zarevski, ...
Life science alliance 6 (3), 2023
92023
A generalist–specialist trade-off between switchgrass cytotypes impacts climate adaptation and geographic range
JD Napier, PP Grabowski, JT Lovell, J Bonnette, S Mamidi, ...
Proceedings of the National Academy of Sciences 119 (15), e2118879119, 2022
92022
A draft genome provides hypotheses on drought tolerance in a keystone plant species in Western North America threatened by climate change
AE Melton, J Beck, SJ Galla, J Jenkins, L Handley, M Kim, J Grimwood, ...
Ecology and Evolution 11 (21), 15417-15429, 2021
92021
Within-Arctic horizontal gene transfer as a driver of convergent evolution in distantly related microalgae
RG Dorrell, A Kuo, Z Füssy, E Richardson, A Salamov, N Zarevski, ...
bioRxiv, 2021.07. 31.454568, 2021
42021
Biosynthesis of Haloterpenoids in Red Algae via Microbial-like Type I Terpene Synthases
TS Steele, I Burkhardt, ML Moore, T de Rond, HK Bone, K Barry, ...
ACS Chemical Biology 19 (1), 185-192, 2023
12023
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
SM Hiatt, JMJ Lawlor, LH Handley, DR Latner, ZT Bonnstetter, CR Finnila, ...
medRxiv, 2024.03. 22.24304633, 2024
2024
eP141: Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies
S Hiatt, J Lawlor, L Handley, Z Bonnstetter, J Jenkins, J Lovell, J Holt, ...
Genetics in Medicine 24 (3), S87, 2022
2022
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