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 | 364 | 2019 |
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 | 152 | 2020 |
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 | 62 | 2021 |
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 | 61 | 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 | 50 | 2019 |
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 | 46 | 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 | 42 | 2020 |
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 | 24 | 2019 |
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 | 15 | 2021 |
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 | 10 | 2020 |
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 | 10 | 2020 |
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 | 4 | 2022 |
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 | 4 | 2021 |
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 | 3 | 2023 |
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 | 1 | 2023 |
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 | 1 | 2023 |
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 | 1 | 2022 |
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 |