Inherited mutations in women with ovarian carcinoma BM Norquist, MI Harrell, MF Brady, T Walsh, MK Lee, S Gulsuner, ... JAMA oncology 2 (4), 482-490, 2016 | 796 | 2016 |
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network S Gulsuner, T Walsh, AC Watts, MK Lee, AM Thornton, S Casadei, ... Cell 154 (3), 518-529, 2013 | 602 | 2013 |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy MY Zhang, JE Churpek, SB Keel, T Walsh, MK Lee, KR Loeb, S Gulsuner, ... Nature Genetics, doi:10.1038/ng.3177, 2015 | 410 | 2015 |
Mutations in homologous recombination genes and outcomes in ovarian carcinoma patients in GOG 218: an NRG oncology/gynecologic oncology group study BM Norquist, MF Brady, MI Harrell, T Walsh, MK Lee, S Gulsuner, ... Clinical Cancer Research 24 (4), 777-783, 2018 | 209 | 2018 |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ... Genetics in Medicine 20 (10), 1175-1185, 2018 | 167 | 2018 |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients SB Keel, A Scott, M Sanchez-Bonilla, PA Ho, S Gulsuner, CC Pritchard, ... Haematologica 101 (11), 1343, 2016 | 159 | 2016 |
Mitochondrial serine protease HTRA2 p. G399S in a kindred with essential tremor and Parkinson disease H Unal Gulsuner, S Gulsuner, FN Mercan, OE Onat, T Walsh, H Shahin, ... Proceedings of the National Academy of Sciences 111 (51), 18285-18290, 2014 | 159 | 2014 |
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. MY Zhang, SB Keel, T Walsh, MK Lee, S Gulsuner, AC Watts, ... Haematologica 100 (1), 42-48, 2015 | 136 | 2015 |
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy R Hassan, B Morrow, A Thomas, T Walsh, MK Lee, S Gulsuner, ... Proceedings of the National Academy of Sciences 116 (18), 9008-9013, 2019 | 135 | 2019 |
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion O Emre Onat, S Gulsuner, K Bilguvar, A Nazli Basak, H Topaloglu, M Tan, ... European Journal of Human Genetics 21 (3), 281-285, 2013 | 128 | 2013 |
Genetics of schizophrenia in the South African Xhosa S Gulsuner, DJ Stein, ES Susser, G Sibeko, A Pretorius, T Walsh, ... Science 367 (6477), 569-573, 2020 | 124 | 2020 |
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ... Proceedings of the National Academy of Sciences 105 (11), 4232-4236, 2008 | 122 | 2008 |
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure Y Tenenbaum-Rakover, A Weinberg-Shukron, P Renbaum, O Lobel, ... J Med Genet, doi:10.1136/jmedgenet-2014-102921, 2015 | 112 | 2015 |
Inherited breast cancer in Nigerian women Y Zheng, T Walsh, S Gulsuner, S Casadei, MK Lee, TO Ogundiran, ... Journal of clinical oncology 36 (28), 2820-2825, 2018 | 109 | 2018 |
Essential Role of BRCA2 in Ovarian Development and Function A Weinberg-Shukron, M Rachmiel, P Renbaum, S Gulsuner, T Walsh, ... New England Journal of Medicine 379 (11), 1042-1049, 2018 | 91 | 2018 |
Improving performance of multigene panels for genomic analysis of cancer predisposition BH Shirts, S Casadei, AL Jacobson, MK Lee, S Gulsuner, RL Bennett, ... Genetics in Medicine 18 (10), 974-981, 2016 | 87 | 2016 |
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred S Gulsuner, AB Tekinay, K Doerschner, H Boyaci, K Bilguvar, H Unal, ... Genome Research 21 (12), 1995-2003, 2011 | 83 | 2011 |
Genetic predisposition to breast cancer due to mutations other than BRCA1 and BRCA2 founder alleles among Ashkenazi Jewish women T Walsh, JB Mandell, BM Norquist, S Casadei, S Gulsuner, MK Lee, ... JAMA oncology 3 (12), 1647-1653, 2017 | 68 | 2017 |
Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes J Hsu, A Reilly, BJ Hayes, CA Clough, EQ Konnick, B Torok-Storb, ... Blood, The Journal of the American Society of Hematology 134 (2), 186-198, 2019 | 54 | 2019 |
Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia C Rippey, T Walsh, S Gulsuner, M Brodsky, AS Nord, M Gasperini, ... American Journal of Human Genetics 93 (4), 697–710, 2013 | 54 | 2013 |