| 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 | 149 | 2020 |
| Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis H Barseghyan, W Tang, RT Wang, M Almalvez, E Segura, MS Bramble, ... Genome medicine 9, 1-11, 2017 | 105 | 2017 |
| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 91 | 2019 |
| 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 | 91 | 2018 |
| DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation … RT Wang, F Barthelemy, AS Martin, ED Douine, A Eskin, A Lucas, ... Human mutation 39 (9), 1193-1202, 2018 | 78 | 2018 |
| 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 | 76 | 2019 |
| 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 | 72 | 2018 |
| 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 | 70 | 2019 |
| 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 | 60 | 2019 |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ... Epilepsia 60 (3), 406-418, 2019 | 60 | 2019 |
| 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 | 49 | 2019 |
| 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, 2018 | 47 | 2018 |
| Disseminated coccidioidomycosis treated with interferon-γ and dupilumab M Tsai, TJ Thauland, AY Huang, C Bun, S Fitzwater, P Krogstad, ... New England Journal of Medicine 382 (24), 2337-2343, 2020 | 45 | 2020 |
| 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 | 45 | 2020 |
| 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 | 40 | 2020 |
| De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ... The American Journal of Human Genetics 105 (4), 854-868, 2019 | 36 | 2019 |
| Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features QKG Tan, H Cope, RC Spillmann, N Stong, YH Jiang, MT McDonald, ... Molecular Case Studies 4 (5), a003046, 2018 | 33 | 2018 |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ... Genetics in medicine 23 (2), 259-271, 2021 | 29 | 2021 |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder C Shieh, N Jones, B Vanle, M Au, AY Huang, APG Silva, H Lee, ... Genetics in Medicine 22 (5), 878-888, 2020 | 29 | 2020 |
| Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes LC Burrage, JJ Reynolds, NV Baratang, JB Phillips, J Wegner, ... The American Journal of Human Genetics 104 (3), 422-438, 2019 | 27 | 2019 |
Stan NelsonProfessor of Human Genetics, UCLAVerified email at ucla.edu
