| Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ... The American Journal of Human Genetics 98 (6), 1193-1207, 2016 | 466* | 2016 |
| Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... The American Journal of Human Genetics 102 (5), 832-844, 2018 | 282 | 2018 |
| Kidney: polycystic kidney disease BM Paul, GB Vanden Heuvel Wiley Interdisciplinary Reviews: Developmental Biology 3 (6), 465-487, 2014 | 112 | 2014 |
| TFEB-VEGFA (6p21. 1) co-amplified renal cell carcinoma: a distinct entity with potential implications for clinical management S Gupta, SH Johnson, G Vasmatzis, B Porath, JG Rustin, P Rao, ... Modern Pathology 30 (7), 998-1012, 2017 | 79 | 2017 |
| Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families BM Paul, MB Consugar, MR Lee, JL Sundsbak, CM Heyer, S Rossetti, ... Kidney international 85 (2), 383-392, 2014 | 74 | 2014 |
| Acceleration of polycystic kidney disease progression in cpk mice carrying a deletion in the homeodomain protein Cux1 NI Alcalay, M Sharma, D Vassmer, B Chapman, B Paul, J Zhou, ... American Journal of Physiology-Renal Physiology 295 (6), F1725-F1734, 2008 | 38 | 2008 |
| Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts BM Paul, D Vassmer, A Taylor, L Magenheimer, CG Carlton, KB Piontek, ... Developmental Dynamics 240 (6), 1493-1501, 2011 | 19 | 2011 |
| Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing LA Lansdon, M Cadieux-Dion, B Yoo, N Miller, ASA Cohen, L Zellmer, ... The Journal of Molecular Diagnostics 23 (5), 651-657, 2021 | 16 | 2021 |
| HPoPKDG, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC: Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal … B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ... Am J Hum Genet 98, 1193-1207, 2016 | 9 | 2016 |
| A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype RJ Tinker, T Guess, DC Rinker, JH Sheehan, D Lubarsky, B Porath, ... Molecular Genetics & Genomic Medicine 10 (12), e2054, 2022 | 8 | 2022 |
| Cux1 promotes cell proliferation and polycystic kidney disease progression in an ADPKD mouse model B Porath, S Livingston, EL Andres, AM Petrie, JC Wright, AE Woo, ... American Journal of Physiology-Renal Physiology 313 (4), F1050-F1059, 2017 | 8 | 2017 |
| Genkyst Study Group HPoPKDG, Consortium for Radiologic Imaging Studies of Polycystic Kidney D, Harris PC (2016) Mutations in GANAB, encoding the glucosidase IIalpha subunit … B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ... Am J Hum Genet 98, 1193-1207, 0 | 8 | |
| Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome. B Porath, S Farooki, M Gener, SM Amudhavalli, L Grote, LD Cooley, ... Clinical genetics 97 (4), 2020 | 2 | 2020 |
| A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype (vol 10, e2054, 2022) RJ Tinker, T Guess, DC Rinker, JH Sheehan, D Lubarsky, B Porath, ... MOLECULAR GENETICS & GENOMIC MEDICINE, 2023 | | 2023 |
| Correction to “A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype” RJ Tinker, T Guess, DC Rinker, JH Sheehan, D Lubarsky, B Porath, ... | | 2023 |
| eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing F Wheeler, M Mosera, E Solem, B Porath, L Lee, T Stricker, J Phillips, ... Genetics in Medicine 24 (3), S261-S262, 2022 | | 2022 |
| Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38 LA Lansdon, M Cadieux-Dion, B Yoo, N Miller, ASA Cohen, L Zellmer, ... | | 2021 |
| Performance Analysis of Three Bioinformatic Variant Callers Using a Somatic Reference Standard B Porath | | 2020 |
| Clinical Utility of Exon Deletion/Duplication Microarray Testing-a Children’s Mercy Kansas City Two-Year Experience B Porath | | 2019 |
| Development of a Custom, Sensitive and Specific PCR Strategy for the Detection of ERG Deletions in Pediatric B-Lymphoblastic Leukemia/Lymphoma (B-ALL) B Porath, BA Pitel, CS Monahan, RP Ketterling, PT Greipp, HM Kearney, ... Cancer Genetics 214, 49, 2017 | | 2017 |
