Whitney Besse, MD

• Ashima Gulati
• James Knight
• Neera Dahl
• Richard Lifton
• Sherry Mansour
• Shrikant Mane
• Stefan Somlo
• Ursula C Brewster

Genetics; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant; Health Care; Whole Exome Sequencing

• Isolated polycystic liver disease genes define effectors of polycystin-1 function.Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal Of Clinical Investigation 2017, 127: 1772-1785. PMID: 28375157, PMCID: PMC5409105, DOI: 10.1172/JCI90129.
• ALG9 Mutation Carriers Develop Kidney and Liver Cysts.Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Torres VE, Somlo S, Mirshahi T. ALG9 Mutation Carriers Develop Kidney and Liver Cysts. Journal Of The American Society Of Nephrology : JASN 2019, 30: 2091-2102. PMID: 31395617, PMCID: PMC6830805, DOI: 10.1681/ASN.2019030298.
• Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease.Wilson EM, Choi J, Torres VE, Somlo S, Besse W. Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease. Kidney International Reports 2020, 5: 727-731. PMID: 32405593, PMCID: PMC7210741, DOI: 10.1016/j.ekir.2020.01.009.
• Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Harris PC. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. American Journal Of Human Genetics 2018, 102: 832-844. PMID: 29706351, PMCID: PMC5986722, DOI: 10.1016/j.ajhg.2018.03.013.
• A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.
• Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation.Besse W, Mansour S, Jatwani K, Nast CC, Brewster UC. Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation. BMC Nephrology 2016, 17: 125. PMID: 27600725, PMCID: PMC5013576, DOI: 10.1186/s12882-016-0330-7.
• Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S. Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney International Reports 2020, 5: 103-108. PMID: 31922066, PMCID: PMC6943786, DOI: 10.1016/j.ekir.2019.09.004.
• Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated.Villaseñor J, Besse W, Benoist C, Mathis D. Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 15854-9. PMID: 18836079, PMCID: PMC2572966, DOI: 10.1073/pnas.0808069105.
• Altered natural killer cells in type 1 diabetic patients.Rodacki M, Svoren B, Butty V, Besse W, Laffel L, Benoist C, Mathis D. Altered natural killer cells in type 1 diabetic patients. Diabetes 2007, 56: 177-85. PMID: 17192480, DOI: 10.2337/db06-0493.
• Variation in IL-1beta gene expression is a major determinant of genetic differences in arthritis aggressivity in mice.Ohmura K, Johnsen A, Ortiz-Lopez A, Desany P, Roy M, Besse W, Rogus J, Bogue M, Puech A, Lathrop M, Mathis D, Benoist C. Variation in IL-1beta gene expression is a major determinant of genetic differences in arthritis aggressivity in mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 12489-94. PMID: 16113081, PMCID: PMC1194932, DOI: 10.1073/pnas.0504325102.
• Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes.Butty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D. Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 570-5. PMID: 17197413, PMCID: PMC1766426, DOI: 10.1073/pnas.0610124104.
• Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.Besse W, Roosendaal C, Tuccillo L, Roy SG, Gallagher AR, Somlo S. Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease. Kidney360 2020, 1: 1068-1076. PMID: 33554127, PMCID: PMC7861569, DOI: 10.34067/kid.0002522020.
• Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.Besse W. Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery. Kidney360 2020, 1: 720-723. PMID: 34327334, PMCID: PMC8317592, DOI: 10.34067/kid.0003632020.