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Lee-kai Wang
Lee-kai Wang
Verified email at mednet.ucla.edu
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Year
Inherited and de novo genetic risk for autism impacts shared networks
EK Ruzzo, L Pérez-Cano, JY Jung, L Wang, D Kashef-Haghighi, C Hartl, ...
Cell 178 (4), 850-866. e26, 2019
3642019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ...
Genetics in Medicine 22 (3), 490-499, 2020
1522020
Brain gene co-expression networks link complement signaling with convergent synaptic pathology in schizophrenia
M Kim, JR Haney, P Zhang, LM Hernandez, L Wang, L Perez-Cano, ...
Nature neuroscience 24 (6), 799-809, 2021
622021
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ...
The American Journal of Human Genetics 104 (6), 1127-1138, 2019
612019
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia
O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ...
The American Journal of Human Genetics 105 (2), 413-424, 2019
502019
Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling
BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ...
Biological psychiatry 87 (2), 100-112, 2020
462020
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
422020
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
V Shashi, J Geist, Y Lee, Y Yoo, U Shin, K Schoch, J Sullivan, N Stong, ...
Human mutation 40 (8), 1115-1126, 2019
242019
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H Cope, H Barseghyan, S Bhattacharya, Y Fu, N Hoppman, C Marcou, ...
Molecular genetics & genomic medicine 9 (7), e1665, 2021
152021
Undiagnosed Diseases Network. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
H Lee, AY Huang, LK Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ...
Genet Med 22 (3), 490-499, 2020
102020
Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
H Lee, AY Huang, LK Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ...
Genet Med 22 (3), 490-499, 2020
102020
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
A McConkie‐Rosell, K Schoch, J Sullivan, RC Spillmann, H Cope, ...
Journal of genetic counseling 31 (1), 59-70, 2022
42022
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Y Zhao, LK Wang, A Eskin, X Kang, VM Fajardo, Z Mehta, S Pineles, ...
Journal of Molecular Medicine 99 (11), 1623-1638, 2021
42021
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
JC Andrews, JW Mok, O Kanca, S Jangam, C Tifft, EF Macnamara, ...
Genetics in Medicine 25 (6), 100833, 2023
32023
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
MC Halley, JL Young, C Tang, KT Mintz, S Lucas-Griffin, AS Maghiro, ...
The Journal of Pediatrics 261, 113537, 2023
12023
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
RC Spillmann, QKG Tan, C Reuter, K Schoch, UD Network, J Kohler, ...
Genetics in Medicine 25 (4), 100353, 2023
12023
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
JN Kohler, EG Kelley, BM Boyd, CH Sillari, S Marwaha, ...
Journal of genetic counseling 31 (2), 326-337, 2022
12022
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
J Pucel, LC Briere, C Reuter, P Gochyyev, MT Acosta, DR Adams, ...
Genetics in Medicine 26 (6), 101115, 2024
2024
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