Laura Bull, PhD

Adjunct Professor

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.

Education
2020 - Diversity, Equity, and Inclusion Champion Training, University of California
Ph.D., 1993 - Graduate Division (Biochemistry), University of California, San Francisco
Websites
Publications

  1. Leung DH, Devaraj S, Goodrich NP, Chen X, Rajapakshe D, Ye W, Andreev V, Minard CG, Guffey D, Molleston JP, Bass LM, Karpen SJ, Kamath BM, Wang KS, Sundaram SS, Rosenthal P, McKiernan P, Loomes KM, Jensen MK, Horslen SP, Bezerra JA, Magee JC, Merion RM, Sokol RJ, Shneider BL, Alonso E, Bass L, Kelly S, Riordan M, Melin-Aldana H, Bezerra J, Bove K, Heubi J, Miethke A, Tiao G, Denlinger J, Chapman E, Sokol R, Feldman A, Mack C, Narkewicz M, Suchy F, Sundaram SS, Van Hove J, Garcia B, Kauma M, Kocher K, Steinbeiss M, Lovell M, Loomes KM, Piccoli D, Rand E, Russo P, Spinner N, Erlichman J, Stalford S, Pakstis D, King S, Squires R, Sindhi R, Venkat V, Bukauskas K, McKiernan P, Haberstroh L, Squires J, Rosenthal P, Bull L, Curry J, Langlois C, Kim G, Teckman J, Kociela V, Nagy R, Patel S, Cerkoski J, Molleston JP, Bozic M, Subbarao G, Klipsch A, Sawyers C, Cummings O, Horslen SP, Murray K, Hsu E, Cooper K, Young M, Finn L, Kamath BM, Ng V, Quammie C, Putra J, Sharma D, Parmar A, Guthery S, Jensen K, Rutherford A, Lowichik A, Book L, Meyers R, Hall T, Wang KS, Michail S, Thomas D, Goodhue C, Kohli R, Wang L, Soufi N, Thomas D, Karpen S, Gupta N, Romero R, Vos MB, Tory R, Berauer JP, Abramowsky C, McFall J, Shneider BL, Harpavat S, Hertel P, Leung D, Tessier M, Schady D, Cavallo L, Olvera D, Banks C, Tsai C, Thompson R, Doo E, Hoofnagle J, Sherker A, Torrance R, Hall S, Magee J, Merion R, Spino C, Ye W, Childhood Liver Disease Research Network. Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. Hepatology (Baltimore, Md.) 2022. PMID: 36069569


  2. Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, University of Washington Center for Mendelian Genomics, Deheragoda M, Bull LN, Thompson RJ. Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1. 2021. PMID: 34677006


  3. Hertel PM, Hawthorne K, Kim S, Finegold MJ, Shneider BL, Squires JE, Gupta NA, Bull LN, Murray KF, Kerkar N, Ng VL, Molleston JP, Bezerra JA, Loomes KM, Taylor SA, Schwarz KB, Turmelle YP, Rosenthal P, Magee JC, Sokol RJ, Childhood Liver Disease Research Network (ChiLDReN). Presentation and Outcomes of Infants with Idiopathic Cholestasis: A Multi-Center Prospective Study. Journal of pediatric gastroenterology and nutrition 2021. PMID: 34310436


  4. Bull LN, Morotti R, Squires JE. 2001 Oct 15 [Updated 2021 Sep 9].. ATP8B1 Deficiency. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al., editors 2021. PMID:


  5. 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). Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. Journal of pediatric gastroenterology and nutrition 2021. PMID: 34016879


  6. Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN. Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World journal of clinical cases 2021. PMID: 34046462


  7. Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Cholestasis Due to USP53 Deficiency. Journal of pediatric gastroenterology and nutrition 2021. PMID: 33075013


  8. 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. Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis. The lancet. Gastroenterology & hepatology 2021. PMID: 33915090


  9. 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. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms. Gastroenterology 2021. PMID: 33771553


  10. 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. Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. Hepatology (Baltimore, Md.) 2019. PMID: 30664273


  11. 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. Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses. Lancet (London, England) 2019. PMID: 30773280


  12. Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. Clinics in liver disease 2018. PMID: 30266155


  13. 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. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. Volume 2 of Issue 5. Hepatology communications 2018. PMID: 29761168


  14. 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. Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Volume 65 of Issue 5. Hepatology (Baltimore, Md.) 2017. PMID: 28027587


  15. Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. Volume 65 of Issue 6. Journal of hepatology 2016. PMID: 27469900


  16. 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. ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes. Volume 64 of Issue 1. Hepatology (Baltimore, Md.) 2016. PMID: 26926206


  17. 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. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping. Volume 10 of Issue 6. PloS one 2015. PMID: 26126184


  18. Thompson RJ, Bull LN. Treating genetic disease: Expanding the options. Volume 62 of Issue 2. Hepatology (Baltimore, Md.) 2015. PMID: 25820708


  19. 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. Mutations in TJP2 cause progressive cholestatic liver disease. Volume 46 of Issue 4. Nature genetics 2014. PMID: 24614073


  20. Bull LN, Vargas J. Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test. Volume 59 of Issue 4. Hepatology (Baltimore, Md.) 2014. PMID: 24123247


  21. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. Volume 8 of Issue 9. PloS one 2013. PMID: 24086631


  22. 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. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Volume 144 of Issue 5. Gastroenterology 2013. PMID: 23415802


  23. Hadžic N, Bull LN, Clayton PT, Knisely AS. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. Volume 18 of Issue 25. World journal of gastroenterology 2012. PMID: 22783059


  24. Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L. Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort. Volume 7 of Issue 3. PloS one 2012. PMID: 22403605


  25. 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. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. Volume 53 of Issue 1. Journal of hepatology 2010. PMID: 20447715


  26. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. Strain background modifies phenotypes in the ATP8B1-deficient mouse. Volume 5 of Issue 2. PloS one 2010. PMID: 20126555


  27. 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. ATP8B1 is essential for maintaining normal hearing. Volume 106 of Issue 24. Proceedings of the National Academy of Sciences of the United States of America 2009. PMID: 19478059


  28. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. Volume 8. BMC gastroenterology 2008. PMID: 18937870


  29. Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Volume 134 of Issue 7. Gastroenterology 2008. PMID: 18466903


  30. 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. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Volume 134 of Issue 4. Gastroenterology 2008. PMID: 18395098


  31. Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. Intestinal bile salt absorption in Atp8b1 deficient mice. Volume 47 of Issue 1. Journal of hepatology 2007. PMID: 17448567


  32. Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Volume 41 of Issue 12. Scandinavian journal of gastroenterology 2006. PMID: 17101580


  33. 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. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Volume 44 of Issue 2. Hepatology (Baltimore, Md.) 2006. PMID: 16871584


  34. 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. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Volume 44 of Issue 1. Hepatology (Baltimore, Md.) 2006. PMID: 16799980


  35. Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. Volume 42 of Issue 4. Journal of pediatric gastroenterology and nutrition 2006. PMID: 16641580


  36. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. Volume 148 of Issue 2. The Journal of pediatrics 2006. PMID: 16492441


  37. 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. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Volume 127 of Issue 2. Gastroenterology 2004. PMID: 15300568


  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. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Volume 40 of Issue 1. Hepatology (Baltimore, Md.) 2004. PMID: 15239083


  39. 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. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Volume 126 of Issue 3. Gastroenterology 2004. PMID: 14988830


  40. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Volume 13 of Issue 8. Human molecular genetics 2004. PMID: 14976163


  41. Carlton VE, Pawlikowska L, Bull LN. Molecular basis of intrahepatic cholestasis. Volume 36 of Issue 8. Annals of medicine 2004. PMID: 15768832


  42. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Volume 34 of Issue 1. Nature genetics 2003. PMID: 12704386


  43. 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. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. Volume 142 of Issue 4. The Journal of pediatrics 2003. PMID: 12712065


  44. Bull LN. Hereditary forms of intrahepatic cholestasis. Volume 12 of Issue 3. Current opinion in genetics & development 2002. PMID: 12076678


  45. van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Seminars in liver disease 2001. PMID: 11745041


  46. Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology (Baltimore, Md.) 2000. PMID: 11093741


  47. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. American journal of human genetics 2000. PMID: 10968776


  48. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology 2000. PMID: 10889168


  49. Bull LN, Pabón-Peña CR, Freimer NB. Compound microsatellite repeats: practical and theoretical features. Genome research 1999. PMID: 10508841


  50. Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N. [Recurrent familial intrahepatic cholestasis in the Faroe Islands]. Ugeskrift for laeger 1999. PMID: 10778315


  51. Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Human genetics 1999. PMID: 10323248


  52. Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology (Baltimore, Md.) 1999. PMID: 9918928


  53. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature genetics 1998. PMID: 9806540


  54. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nature genetics 1998. PMID: 9500542


  55. Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Human genetics 1997. PMID: 9272159


  56. Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. American journal of human genetics 1997. PMID: 9326328


  57. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology (Baltimore, Md.) 1997. PMID: 9214465


  58. Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B. In search of a gene for hereditary cholestasis. Biochemical and molecular medicine 1996. PMID: 8986630


  59. Bull LN, Hewitt JE, Cox DR, Myers RM. Sensitivity of HincII to CpG methylation. Nucleic acids research 1993. PMID: 8493118


  60. Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR. Recombination of 4p16 DNA markers in an unusual family with Huntington disease. American journal of human genetics 1992. PMID: 1350884


  61. Pritchard C, Casher D, Bull L, Cox DR, Myers RM. A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proceedings of the National Academy of Sciences of the United States of America 1990. PMID: 2144903