Exome Sequencing Reanalysis Improves Molecular Diagnosis in Genetic Cholestatic Liver Diseases

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban‐Akdemir, Z., Walkiewicz, M. A., Bi, W., Xiao, R., Ding, Y., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1516767 · Cited by 772 · see citing works

Alpha 1 -Antitrypsin Deficiency

Strnad, P., McElvaney, N. G., & Lomas, D. A. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1910234 · Cited by 518 · see citing works

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

Strautnieks, S. S., Byrne, J. A., Pawlikowska, L., Cebecauerová, D., Rayner, A., Dutton, L., Meier, Y., Antoniou, A., Stieger, B., Arnell, H., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.01.038 · Cited by 383 · see citing works

α1-Antitrypsin deficiency

Greene, C. M., Marciniak, S. J., Teckman, J. H., Ferrarotti, I., Brantly, M., Lomas, D. A., Stoller, J. K., & McElvaney, N. G. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.51 · Cited by 326 · see citing works

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Wenger, A. M., Guturu, H., Bernstein, J. A., & Bejerano, G. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.88 · Cited by 326 · see citing works

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Smedley, D. P., Smedley, D. P., Smith, K. R., Martin, A., Thomas, E. A., McDonagh, E. M., Cipriani, V., Ellingford, J. M., Arno, G., Tucci, A., et al. (2021) · UCL Discovery (University College London) · doi:10.17863/cam.108059 · Cited by 324 · see citing works

Reanalysis of Clinical Exome Sequencing Data

Liu, P., Meng, L., Normand, E. A., Xia, F., Song, X., Ghazi, A. R., Rosenfeld, J. A., Magoulas, P. L., Braxton, A. A., Ward, P. A., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmc1812033 · Cited by 294 · see citing works

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Deignan, J. L., Chung, W. K., Kearney, H. M., Monaghan, K. G., Rehder, C. W., & Chao, E. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0478-1 · Cited by 224 · see citing works

Cystic fibrosis

Mall, M. A., Burgel, P., Castellani, C., Davies, J. C., Salathe, M. A., & Taylor‐Cousar, J. L. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00538-6 · Cited by 223 · see citing works

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Dröge, C., Bonus, M., Baumann, U., Klindt, C., Lainka, E., Kathemann, S., Brinkert, F., Grabhorn, E. F., Pfister, E., Wenning, D., et al. (2017) · Journal of Hepatology · doi:10.1016/j.jhep.2017.07.004 · Cited by 141 · see citing works

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis

Strnad, P., Buch, S., Hamesch, K., Fischer, J., Rosendahl, J., Schmelz, R., Brueckner, S., Brosch, M., Heimes, C. V., Woditsch, V., et al. (2018) · Gut · doi:10.1136/gutjnl-2018-316228 · Cited by 137 · see citing works

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Togawa, T., Sugiura, T., Ito, K., Endo, T., Aoyama, K., Ohashi, K., Negishi, Y., Kudo, T., Ito, R., Kikuchi, A., et al. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.01.006 · Cited by 103 · see citing works

EASL Clinical Practice Guidelines on genetic cholestatic liver diseases

Verkade, H. J., Felzen, A., Keitel, V., Thompson, R. J., Gonzales, E. M., Strnad, P., Kamath, B. M., & van Mil, S. W. C. (2024) · Journal of Hepatology · doi:10.1016/j.jhep.2024.04.006 · Cited by 99 · see citing works

Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

Chung, C. C. Y., Hue, S. P. Y., Ng, N. Y. T., Doong, P. H. L., Chu, A. T.-W., & Chung, B. H. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100896 · Cited by 93 · see citing works

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Fung, J. L. F., Yu, M. H. C., Huang, S., Chung, C. C. Y., Chan, M. C. Y., Pajusalu, S., Mak, C. C. Y., Hui, V. C. C., Tsang, M. H., Yeung, K. S., et al. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00144-x · Cited by 85 · see citing works

Next generation sequencing in pediatric hepatology and liver transplantation

Nicastro, E., & D’Antiga, L. (2017) · Liver Transplantation · doi:10.1002/lt.24964 · Cited by 78 · see citing works

Cholestatic liver diseases of genetic etiology: Advances and controversies

Ibrahim, S. H., Kamath, B. M., Loomes, K. M., & Karpen, S. J. (2022) · Hepatology · doi:10.1002/hep.32437 · Cited by 71 · see citing works

Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges

Chen, H., Li, H.-Y., Wu, J., Wu, S., Chen, H., Yang, Y.-H. S., Hsu, Y., Liou, B., Chang, M., & Ni, Y. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.09.028 · Cited by 69 · see citing works

Clinical phenotype of adult‐onset liver disease in patients with variants in ABCB4 , ABCB11 , and ATP8B1

Nayagam, J. S., Foskett, P., Strautnieks, S. S., Agarwal, K., Miquel, R., Joshi, D., & Thompson, R. J. (2022) · Hepatology Communications · doi:10.1002/hep4.2051 · Cited by 58 · see citing works

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Laurie, S., Steyaert, W., de Boer, E., Polavarapu, K., Schuermans, N., Sommer, A. K., Demidov, G., Ellwanger, K., Paramonov, I., Thomas, C., et al. (2025) · Nature Medicine · doi:10.1038/s41591-024-03420-w · Cited by 58 · see citing works

Genetic variants that associate with cirrhosis have pleiotropic effects on human traits

Chen, V. L., Chen, Y., Du, X., Handelman, S. K., & Speliotes, E. K. (2019) · Liver International · doi:10.1111/liv.14321 · Cited by 54 · see citing works

Review article: liver disease in adults with variants in the cholestasis‐related genes ABCB11 , ABCB4 and ATP8B1

Nayagam, J. S., Williamson, C., Joshi, D., & Thompson, R. J. (2020) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.16118 · Cited by 50 · see citing works

Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases

Alix, T., Chéry, C., Josse, T., Bronowicki, J., Feillet, F., Guéant‐Rodriguez, R., Namour, F., Guéant, J., & Oussalah, A. (2023) · Human Genomics · doi:10.1186/s40246-023-00455-x · Cited by 19 · see citing works

Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice

Chung, D. H., Zheng, M., Bale, A. E., & Vilarinho, S. (2023) · Journal of Hepatology · doi:10.1016/j.jhep.2023.03.030 · Cited by 18 · see citing works

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Mighton, C. E., Abu‐El‐Haija, A., Aggarwal, V., Akkari, Y. M. N., Astbury, C., Best, D. H., Conlin, L. K., Harrison, S. M., Jiang, N., Kruszka, P. S., et al. (2026) · Genetics in Medicine · doi:10.1016/j.gim.2026.102583 · Cited by 16 · see citing works

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis

Zheng, Y., Guo, H., Chen, L., Cheng, W., Yan, K., Zhang, Z., Li, M., Jin, Y., Hu, G., Wang, C., et al. (2023) · Hepatology International · doi:10.1007/s12072-023-10553-6 · Cited by 15 · see citing works

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics

de Bitter, T. J. J., van der Sanden, B. P. G. H., Sagath, L., Höps, W., Arts, P., de Groot, M., Weiss, M. M., Derks, R. C., den Ouden, A., van den Heuvel, S., et al. (2026) · New England Journal of Medicine · doi:10.1056/nejmc2602512 · Cited by 9 · see citing works

Real‐life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis

Ito, S., Togawa, T., Imagawa, K., Ito, K., Endo, T., Sugiura, T., & Saitoh, S. (2022) · JPGN Reports · doi:10.1097/pg9.0000000000000196 · Cited by 8 · see citing works

Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease

Scaravaglio, M., Ronzoni, L., Cristoferi, L., Miano, L., Nofit, E., Gerussi, A., Malinverno, F., Moretti, V., Torcianti, V., Caime, C., et al. (2025) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2025.07.031 · Cited by 8 · see citing works

Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype

Rodriguez, M. S., Mulot, M., Chéry, C., Bensenane, M., Guéant‐Rodriguez, R., Jaussaud, R., Cobat, A., Feillet, F., Bronowicki, J., Namour, F., et al. (2025) · Hepatology Research · doi:10.1111/hepr.14203 · Cited by 3 · see citing works

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults

Hoskins, B. J., Pramparo, T., Gough, E., Ponte, A. H., Dutta, R., & Karnsakul, W. W. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1841006 · Cited by 2 · see citing works

Near-perfect genome sequencing in medical genetics

Sabbagh, Q., Gilissen, C., Yntema, H. G., Vissers, L. E. L. M., & Hoischen, A. (2026) · Nature Genetics · doi:10.1038/s41588-026-02645-4 · Cited by 2 · see citing works

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis

Morel, P., Rodriguez, M. S., Benmouffek, C., Goksen, B., Chéry, C., Haghnejad, V., Bensenane, M., Feillet, F., Guéant, J., Namour, F., et al. (2026) · Liver International · doi:10.1111/liv.70646 · Cited by 2 · see citing works

Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation

Bhuva, M., Thompson, E., Watson, C. M., Sava, F., & Griffiths, W. J. (2026) · Digestive Diseases and Sciences · doi:10.1007/s10620-026-10072-y · Cited by 1 · see citing works

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance

Conti, A., Gabrielli, F., Ferrari, S., Vaisfeld, A., Masi, C. D., Azzaroli, F., Piscaglia, F., & Vitale, G. (2026) · Diagnostics · doi:10.3390/diagnostics16152335 · Cited by 1 · see citing works

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults

Hoskins, B. J., Pramparo, T., Gough, E., Ponte, A. H., Dutta, R., & Karnsakul, W. W. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1841006 · Cited by 2 · see citing works

Clinical Utility of Comprehensive Genetic Testing in Adult Cholestasis: Insights from 856 Panel Tests

Hoskins, B. J., Pramparo, T., Gough, E. K., Ponte, A. H., Dutta, R., Schoen, C., Terner-Rosenthal, J., & Karnsakul, W. W. (2026) · Zeitschrift für Gastroenterologie · doi:10.1055/s-0045-1814228

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel

Kong, X., Bogyo, K., Kapoor, S., Shea, P. R., Groopman, E., Thomas‐Wilson, A., Cocchi, E., Rasouly, H. M., Zheng, B., Sun, S., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-42202-1 · Cited by 9 · see citing works

Clinical utility of a targeted panel sequencing for the diagnosis of chronic hereditary liver diseases in adult patients

Marini, I., Ronzoni, L., Pelusi, S., Golfetto, F. S., Lombardi, A., Rondena, J., Periti, G., Bianco, C., Passignani, G., Castronovo, P., et al. (2023) · Digestive and Liver Disease · doi:10.1016/j.dld.2023.01.068

Diagnostic yield of whole exome sequencing in adult-onset cholestatic liver disease

Scaravaglio, M., Ronzoni, L., Cristoferi, L., Miano, L., Nofit, E., Gerussi, A., Malinverno, F., Moretti, V., Torcianti, V., Caime, C., et al. (2025) · Digestive and Liver Disease · doi:10.1016/j.dld.2025.01.096