| Reducing INDEL calling errors in whole genome and exome sequencing data H Fang, Y Wu, G Narzisi, JA O'Rawe, LTJ Barrón, J Rosenbaum, ... Genome Med 6 (10), 89, 2014 | 192 | 2014 |
| TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ... The American Journal of Human Genetics 97 (6), 922-932, 2015 | 124 | 2015 |
| Indel variant analysis of short-read sequencing data with Scalpel H Fang, EA Grabowska, K Arora, V Vacic, MC Zody, I Iossifov, JA ORawe, ... Nature Protocols, 028050, 2015 | 111 | 2015 |
| Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine H Fang, Y Wu, H Yang, M Yoon, LT Jiménez-Barrón, D Mittelman, ... BMC medical genomics 10, 1-16, 2017 | 21 | 2017 |
| Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline LT Jiménez-Barrón, JA O'Rawe, Y Wu, M Yoon, H Fang, I Iossifov, G Lyon bioRxiv, 019208, 2015 | 9 | 2015 |
| Building genomic analysis pipelines in a hackathon setting with bioinformatician teams: DNA-seq, epigenomics, metagenomics and RNA-seq B Busby, A Dillman, CL Simpson, I Fingerman, S Yun, DM Kristensen, ... BioRxiv, 018085, 2015 | 7 | 2015 |
| A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features J Ou’Rawe, Y Wu, A Rope, LT Jimenez Barrón, J Swensen, H Fang, ... bioRxiv, 014050, 2015 | 7 | 2015 |
| Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 6, 89 H Fang, Y Wu, G Narzisi, JA O’Rawe, LT Barron, J Rosenbaum, ... | 5 | 2014 |
| Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 2014; 6: 89 H Fang, Y Wu, G Narzisi, JA O’Rawe, LT Barron, J Rosenbaum | 5 | |
| Human-specific enrichment of schizophrenia risk-genes in callosal neurons of the developing neocortex E Zuccaro, V Murek, K Kim, HH Chen, S Mancinelli, P Oyler-Castrillo, ... BioRxiv, 2021.09. 10.459747, 2021 | 4 | 2021 |
| Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants CK Rummel, M Gagliardi, R Ahmad, A Herholt, L Jimenez-Barron, ... Cell 186 (23), 5165-5182. e33, 2023 | 2 | 2023 |
| Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants CK Rummel, M Gagliardi, A Herholt, R Ahmad, V Murek, L Weigert, ... bioRxiv, 2023 | 1 | 2023 |
| HadoopCNV: A dynamic programming imputation algorithm to detect copy number variants from sequencing data H Yang, G Chen, L Lima, H Fang, L Jimenez, M Li, GJ Lyon, M He, ... bioRxiv, 124339, 2017 | 1 | 2017 |
| Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment FJ Raabe, A Hausruckinger, M Gagliardi, R Ahmad, V Almeida, S Galinski, ... bioRxiv, 2024.01. 09.574815, 2024 | | 2024 |
| Distinct genetic liability profiles define clinically relevant patient strata across common diseases L Trastulla, S Moser, LT Jiménez-Barrón, TFM Andlauer, M von Scheidt, ... medRxiv, 2023 | | 2023 |
| Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms H Fang, Y Wu, M Yoon, LT Jiménez-Barrón, JA O’Rawe, G Highnam, ... bioRxiv, 019182, 2015 | | 2015 |
| Variant Analysis of Simplex Autism Families L Jimenez Barron, GJ Lyon | | 2014 |
| Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline L Jimenez Barron, GJ Lyon | | 2014 |
| A rare genetic" transcriptomopathy" syndrome leading to insights into more common neurologic disorders JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ... | | |
| Comprehensive whole genome sequencing of a three generation pedigree: genetic components of a new syndrome with Severe Developmental Delay and Dysmorphic Features JA O'Rawe, Y Wu, A Rope, LTJ Barrón, D Mittelman, G Highnam, H Fang, ... | | |
