Laura Bull, PhD

Title(s)Professor, Medicine
SchoolSchool of Medicine
Address513 Parnassus Ave, HSE
San Francisco CA 94143
Phone415-502-0744
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoPh.D.1993 Graduate Division (Biochemistry)
    University of California, San Francisco, CA2020Diversity, Equity, and Inclusion Champion Training

    Collapse Overview 
    Collapse Overview
    The research in my laboratory occurs at the interface of genetics and hepatology. We identify and study genetic factors contributing to development of cholestatic liver disease in people and mouse models.

    Collapse Research 
    Collapse Research Activities and Funding
    The Genetic Basis of Pediatric Cholestasis
    NIH R01DK094828Sep 24, 2012 - Aug 31, 2021
    Role: Principal Investigator
    The Genetic Basis of Pediatric Cholestasis
    NIH R56DK094828Sep 24, 2012 - Aug 31, 2014
    Role: Principal Investigator
    The Genetic Basis of Hereditary Liver Disease
    NIH R01DK058214Jul 1, 2000 - Jun 30, 2014
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH R56DK050697Feb 1, 1996 - Aug 31, 2013
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH R01DK050697Feb 1, 1996 - Apr 30, 2011
    Role: Principal Investigator
    LINKAGE DISEQUILIBRIUM MAPPING OF BIPOLAR DISORDER
    NIH F32MH011128Nov 9, 1995
    Role: Principal Investigator
    Bio-Organic Biomedical Mass Spectrometry Resource
    NIH P41RR001614Mar 1, 1982 - May 31, 2015
    Role: Co-Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World J Clin Cases. 2021 May 26; 9(15):3631-3636. Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN. PMID: 34046462.
      View in: PubMed   Mentions:
    2. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children with Monogenic Cholestasis. J Pediatr Gastroenterol Nutr. 2021 May 13. van Doren H, Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL, Childhood Liver Disease Research Network (ChiLDReN) . PMID: 34016879.
      View in: PubMed   Mentions:    Fields:    
    3. Cholestasis Due to USP53 Deficiency. J Pediatr Gastroenterol Nutr. 2021 May 01; 72(5):667-673. Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. PMID: 33075013.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis. Lancet Gastroenterol Hepatol. 2021 Apr 26. Ovadia C, Sajous J, Seed PT, Patel K, Williamson NJ, Attilakos G, Azzaroli F, Bacq Y, Batsry L, Broom K, Brun-Furrer R, Bull L, Chambers J, Cui Y, Ding M, Dixon PH, Estiú MC, Gardiner FW, Geenes V, Grymowicz M, Günaydin B, Hague WM, Haslinger C, Hu Y, Indraccolo U, Juusela A, Kane SC, Kebapcilar A, Kebapcilar L, Kohari K, Kondrackiene J, Koster MPH, Lee RH, Liu X, Locatelli A, Macias RIR, Madazli R, Majewska A, Maksym K, Marathe JA, Morton A, Oudijk MA, Öztekin D, Peek MJ, Shennan AH, Tribe RM, Tripodi V, Türk Özterlemez N, Vasavan T, Wong LFA, Yinon Y, Zhang Q, Zloto K, Marschall HU, Thornton J, Chappell LC, Williamson C. PMID: 33915090.
      View in: PubMed   Mentions:    Fields:    
    5. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms. Gastroenterology. 2021 Jul; 161(1):287-300.e16. Pham DH, Kudira R, Xu L, Valencia CA, Ellis JL, Shi T, Evason KJ, Osuji I, Matuschek N, Pfuhler L, Mullen M, Mohanty SK, Husami A, Bull LN, Zhang K, Wali S, Yin C, Miethke A. PMID: 33771553.
      View in: PubMed   Mentions:    Fields:    
    6. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 09; 70(3):899-910. Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ, Childhood Liver Disease Research Network (ChiLDReN) . PMID: 30664273.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    7. Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses. Lancet. 2019 03 02; 393(10174):899-909. Ovadia C, Seed PT, Sklavounos A, Geenes V, Di Ilio C, Chambers J, Kohari K, Bacq Y, Bozkurt N, Brun-Furrer R, Bull L, Estiú MC, Grymowicz M, Gunaydin B, Hague WM, Haslinger C, Hu Y, Kawakita T, Kebapcilar AG, Kebapcilar L, Kondrackiene J, Koster MPH, Kowalska-Kanka A, Kupcinskas L, Lee RH, Locatelli A, Macias RIR, Marschall HU, Oudijk MA, Raz Y, Rimon E, Shan D, Shao Y, Tribe R, Tripodi V, Yayla Abide C, Yenidede I, Thornton JG, Chappell LC, Williamson C. PMID: 30773280.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    8. Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2018 11; 22(4):657-669. Bull LN, Thompson RJ. PMID: 30266155.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    9. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. Hepatol Commun. 2018 May; 2(5):515-528. Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ. PMID: 29761168.
      View in: PubMed   Mentions:
    10. Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology. 2017 05; 65(5):1645-1654. Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL, Childhood Liver Disease Research Network (ChiLDReN) . PMID: 28027587.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    11. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol. 2016 12; 65(6):1179-1187. Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J, University of Washington Center for Mendelian Genomics , Bull L, Thompson RJ. PMID: 27469900.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    12. ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes. Hepatology. 2016 07; 64(1):161-74. de Waart DR, Naik J, Utsunomiya KS, Duijst S, Ho-Mok K, Bolier AR, Hiralall J, Bull LN, Bosma PJ, Oude Elferink RP, Paulusma CC. PMID: 26926206.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    13. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping. PLoS One. 2015; 10(6):e0131211. Bull LN, Hu D, Shah S, Temple L, Silva K, Huntsman S, Melgar J, Geiser MT, Sanford U, Ortiz JA, Lee RH, Kusanovic JP, Ziv E, Vargas JE. PMID: 26126184.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    14. Treating genetic disease: Expanding the options. Hepatology. 2015 Aug; 62(2):349-51. Thompson RJ, Bull LN. PMID: 25820708.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    15. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr; 46(4):326-8. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, University of Washington Center for Mendelian Genomics , Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. PMID: 24614073.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansAnimalsCells
    16. Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test. Hepatology. 2014 Apr; 59(4):1220-2. Bull LN, Vargas J. PMID: 24123247.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    17. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One. 2013; 8(9):e75770. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. PMID: 24086631.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    18. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology. 2013 May; 144(5):945-955.e6; quiz e14-5. Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. PMID: 23415802.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    19. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. World J Gastroenterol. 2012 Jul 07; 18(25):3322-6. Hadžic N, Bull LN, Clayton PT, Knisely AS. PMID: 22783059.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    20. Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort. PLoS One. 2012; 7(3):e28343. Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L. PMID: 22403605.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    21. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010 Jul; 53(1):170-8. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. PMID: 20447715.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    22. Strain background modifies phenotypes in the ATP8B1-deficient mouse. PLoS One. 2010 Feb 01; 5(2):e8984. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. PMID: 20126555.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    23. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24):9709-14. Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH. PMID: 19478059.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansAnimals
    24. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. BMC Gastroenterol. 2008 Oct 20; 8:47. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM. PMID: 18937870.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    25. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology. 2008 Jun; 134(7):2091-100. Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. PMID: 18466903.
      View in: PubMed   Mentions: 21     Fields:    Translation:AnimalsCells
    26. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr; 134(4):1203-14. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. PMID: 18395098.
      View in: PubMed   Mentions: 89     Fields:    Translation:Humans
    27. Intestinal bile salt absorption in Atp8b1 deficient mice. J Hepatol. 2007 Jul; 47(1):114-22. Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. PMID: 17448567.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    28. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Scand J Gastroenterol. 2006 Dec; 41(12):1480-3. Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. PMID: 17101580.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    29. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006 Aug; 44(2):478-86. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ. PMID: 16871584.
      View in: PubMed   Mentions: 89     Fields:    Translation:Humans
    30. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006 Jul; 44(1):195-204. Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP. PMID: 16799980.
      View in: PubMed   Mentions: 70     Fields:    Translation:AnimalsCells
    31. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. J Pediatr Gastroenterol Nutr. 2006 Apr; 42(4):416-8. Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. PMID: 16641580.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    32. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006 Feb; 148(2):269-71. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. PMID: 16492441.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    33. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004 Aug; 127(2):379-84. van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW. PMID: 15300568.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansCells
    34. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004 Jul; 40(1):27-38. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. PMID: 15239083.
      View in: PubMed   Mentions: 67     Fields:    Translation:Humans
    35. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004 Mar; 126(3):756-64. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL. PMID: 14988830.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    36. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004 Apr 15; 13(8):881-92. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. PMID: 14976163.
      View in: PubMed   Mentions: 28     Fields:    Translation:Animals
    37. Molecular basis of intrahepatic cholestasis. Ann Med. 2004; 36(8):606-17. Carlton VE, Pawlikowska L, Bull LN. PMID: 15768832.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    38. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May; 34(1):91-6. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. PMID: 12704386.
      View in: PubMed   Mentions: 72     Fields:    Translation:HumansCells
    39. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. J Pediatr. 2003 Apr; 142(4):441-7. Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H. PMID: 12712065.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    40. Hereditary forms of intrahepatic cholestasis. Curr Opin Genet Dev. 2002 Jun; 12(3):336-42. Bull LN. PMID: 12076678.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
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