lbull@medsfgh.ucsf.edu
(415) 206-4807 (voice)
(415) 641-0517 (fax)

Box 0862, UCSF; San Francisco, CA 94143-0862

Yale University, New Haven, CT, BS, 1986, Mol. Biophysics & Biochemistry
University of California, San Francisco, PhD, 1993, Biochemistry
University of California, San Francisco, Postdoc Fellow, 1994-1998, Neurogenetics

Pritchard C, Zhu N, Zuo J, Bull LN, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR, Myers RM. Recombination of 4p16 markers in an unusual family with Huntington Disease. American Journal of Human Genetics 1992; 50:1218-1230.

Pritchard C, Casher D, Bull LN, 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 1990; 87:7309-7313.

Bull LN, Hewitt JE, Cox DR, Myers RM. Sensitivity of HincII to CpG methylation. Nucleic Acids Research 1993; 21(8):2021.

Sinke RJ, Carlton VEH, Juijn JA, Delhaas T, Bull LN, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CMA, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RHJ. Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7cM interval between D18S69 and D18S64. Human Genetics 1997; 100:382-387.

Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely A, Bull LN, Freimer NB, 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; 61:630-633.

Bull LN, Carlton VEH, 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, et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler Disease [PFIC-1] and Byler Syndrome): Evidence for heterogeneity. Hepatology 1997; 26(1):155-164.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Henrik A, Etienne S, Dahan D, Childs S, Ling V, Tanner MS, Kagalwalla AR, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genetics 1998; 20(3):233-238.

Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BF, Knisely AK, Houwen RHJ, Freimer NB. A gene encoding a P-type ATPase is mutated in two forms of hereditary cholestasis. Nature Genetics 1998; 18(3):219-224.

Bull LN, Juijn JA, Liao M, van Eijk MJT, Sinke RJ, Stricker NL, DeYoung JA, Carlton VEH, Baharloo S, Klomp LWJ, 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, Houwen RHJ, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Human Genetics 1999; 104:241-248.

Tygstrup N, a Steig B, Juijn JA, Bull LN, Houwen RHJ. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology, 1999; 29(2):506-508.

Bull LN, Pabon-Pena C, Freimer NB. Compound microsatellite repeats: practical and theoretical features. Genome Research 1999; 9:830-838.

Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Puffenberger E, Shneider B, Bull LN, Knisely AS. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology 2000;119:188-195.

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 6.6cM interval on chromosome 15q. American Journal of Human Genetics 2000;67:994-999.

Klomp LWJ, Bull LN, Knisely AS, van der Doelen MAM, Juijn JA, Berger R, Forget S, Nielsen I.M., Eiberg H, Houwen RHJ. A missense mutation in FIC1 is associated with Greenland familial cholestasis. Hepatology 2000;32:1337-1341.

Taylor KA, Knisely AS, Bull LN. Progressive Familial Intrahepatic Cholestasis 1 and 2. In: GeneClinics: Clinical Genetic Information Resource [datebase online]. Copyright, University of Washington, Seattle. 2001 Available at http://www.geneclinics.org.

Fruhwirth M, Janecke AR, Muller T, Carlton VEH, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Konigsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull LN, Ellemunter, H . Evidence for locus heterogeneity in lymphedema-cholestasis syndrome (Aagenaes syndrome). Journal of Pediatrics 2003;142:441-447.

Carlton VEH, Harris BZ, Puffenberger E, 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. Nature Genetics 2003;34:91-96.

Chen F, Ananthanarayanan, M, Emre S, Neimark E, Bull L, Knisely AS, Strautnieks S, Thompson R, Magid M, Gordon R, Balasubramanian N, Suchy FJ, Shneider, BL. Progressive Familial Intrahepatic Cholestasis, Type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004;126:756-764.

Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Oude-Elferink RPJ, Freimer NB. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Human Molecular Genetics 2004; 13:881-892.

Klomp LWJ, Vargas JC, van Mil SWC, Pawlikowska L, Strautnieks SS, van Eijk MJT, Juijn JA, Pabon-Pena 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 RHJ, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004; 40:27-38.

van Mil SWC, van der Woerd WL, ven der Brugge G, Sturm E, Jansen PLM, Bull LN, van den Berg IET, Berger R, Houwen RHJ, Klomp LWJ. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004 (in press).

11/15/04