Pedro Sanchez

CHL Mail Stop 90
Phone: (323) 361-2178
Fax: (323) 665-5937

Pedro Sanchez, M.D.

Director of Craniofacial Genetics, Children’s Hospital Los Angeles

Assistant Professor of Clinical Pediatrics, University of Southern California

Assistant Professor of Clinical Pathology, University of Southern California

  • University of California Los Angeles
    Cell and Molecular Biology

  • University of California Los Angeles

  • Children's Hospital of Philadelphia

  • Children's Hospital of Philadelphia

  • Children's Hospital of Philadelphia
    Medical Genetics

  • Cedars Sinai Medical Center, Los Angeles, CA
    Genetics / Dysmorphology

  • University of Pennsylvania
    Genetic Epidemiology

  • 2013 - present - - Center for Craniofacial Molecular Biology (CCMB)/ Ostrow School of Dentistry Joint appointment
  • 2012 - present - Assistant Professor of Clinical Pathology - University of Southern California
  • 2009 - present - Human Data advisory committee - Facebase (NIDCR study)
  • 2009 - present - Assistant Professor of Clinical Pediatrics - University of Southern California
  • 2007 - present - Medical Volunteer - Shriner’s Hospital Craniofacial Clinic
  • 2007 - present - Director of Craniofacial Genetics - Children’s Hospital Los Angeles
  • 2007 - 2008 - Visiting Assistant Professor of Clinical Pediatrics - University of Southern California
  • 2006 - - - CDC National Craniosynostosis Research Prioritization Meeting, Atlanta, Georgia
  • 2006 - 2009 - - National Birth Defects Prevention Study Publications & Communications Committee
  • 2006 - present - Faculty Mentor - Latino Medical Student Association
  • 2013 - CHLA Saban Inspire Innovation Program (SIIP)
  • 2012-2013 - National Institute of Dental and Craniofacial Research (NIDCR) Career Development Award
  • 2011-2012 - Jerome & Adrianne Kay Family Foundation Award
  • 2009-2011 - K12 Career Development Award
  • 2008-2012 - Robert Wood Johnson Amos Medical Faculty Development Scholar
  • 2008 - Carl Storm Underrepresented Minority Fellowship
  • 2006 - David W. Smith Workshop Fellow Award
  • 2005 - National Institutes of Health, National Research Service Award (NRSA)
  • 2001 - California Latino Medical Assoc. Dr. Juan Villagomez Memorial Scholarship
  • 2001 - Chicano Medical Student Assoc. Richard Juarez Commitment to the Community Award
  • 2000 - The Affiliates' Medical School Scholarship
  • 1999 - Aescalapians Summer Fellowship
  • 1998-2000 - Mackenzie Foundation Scholarship
  • 1998 - Letter of Distinction Histological Anatomy
  • 1998 - UCLA Head and Neck Summer Research Award

Completed Grants

Developing 3D Craniofacial Morphometry Date and Tools to Transform Dysmophology - Grant #FY17.236.004

  • Principal Investigator: Pedro Sanchez, M.D.
  • Sponsor: University of Colorado Denver
  • Period: 05/01/2015-04/30/2018
  • Goal:
  1. Wolfswinkel EM, Imahiyerobo TA, McComb JG, Sanchez-Lara PA, Urata MM. (2017) Proteus Syndrome With a Cranial Intraosseous Lipoma. J Craniofac Surg. 2017 Nov;28(8):e771-e773. doi: 10.1097/SCS.0000000000003959. PubMed PMID: 28938315.

  2. Munabi NCO, Swanson J, Auslander A, Sanchez-Lara PA, Davidson Ward SL, Magee WP 3rd. (2017) The Prevalence of Congenital Heart Disease in Nonsyndromic Cleft Lip and/or Palate: A Systematic Review of the Literature. Ann Plast Surg. 2017 Aug;79(2):214-220. doi: 10.1097/SAP.0000000000001069. PubMed PMID: 28570447.

  3. Ly S, Burg ML, Ihenacho U, Brindopke F, Auslander A, Magee KS, Sanchez-Lara PA, Nguyen TH, Nguyen V, Tangco MI, Hernandez AR, Giron M, Mahmoudi FJ, DeClerck YA, Iii WPM, Figueiredo JC. (2017) Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans. Int J Environ Res Public Health. 2017 Jun 19;14(6). pii: E657. doi: 10.3390/ijerph14060657. PubMed PMID: 28629204; PubMed Central PMCID: PMC5486343.

  4. Teng CS, Yen HY, Barske L, Smith B, Llamas J, Segil N, Go J, Sanchez-Lara PA, Maxson RE, Crump JG. (2017) Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear. Sci Rep. 2017 May 31;7(1):2497. doi:10.1038/s41598-017-02574-7. PubMed PMID: 28566723; PubMed Central PMCID:PMC5451394.

  5. Gkourogianni A, Andrew M, and Sanchez-Lara PA, etc. (2017) Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi:10.1210/jc.2016-3313. PubMed PMID: 27870580; PubMed Central PMCID: PMC5413162.

  6. Tian H, Feng J, Li J, Ho TV, Yuan Y, Liu Y, Brindopke F, Figueiredo JC, Magee W 3rd, Sanchez-Lara PA, Chai Y. (2017) Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. Hum Mol Genet. 2017 Mar 1;26(5):860-872. doi: 10.1093/hmg/ddx002. PubMed PMID: 28069795; PubMed Central PMCID: PMC6075526.

  7. Gardner OK, Haynes K, Schweitzer D, Johns A, Magee WP, Urata MM, Sanchez-Lara PA. (2017) Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. Cleft Palate Craniofac J. 2017 Nov;54(6):739-748. doi: 10.1597/15-151. Epub 2016 Jun 29. PubMed PMID: 27356087.

  8. Wenger TL, Earl D, Chow P, Sanchez-Lara PA. (2016) Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition. J Pediatr. 2016 Aug;175:216-223.e1. doi:10.1016/j.jpeds.2016.04.061. Epub 2016 Jun 8. PubMed PMID: 27289500.

  9. Christian E, Imahiyerobo T, Johns A, Sanchez P, Krieger MD, McComb JG, Urata M. (2016) 310 Predictors of Preoperative Developmental Delay in Nonsyndromic Sagittal Craniosynostosis. Neurosurgery. 2016 Aug;63 Suppl 1:189. doi:10.1227/01.neu.0000489798.34609.fd. PubMed PMID: 27399508.

  10. Feng J, Jing J, Sanchez-Lara PA, Bootwalla MS, Buckley J, Wu N, Yan Y, Chai Y. (2016) Generation and characterization of tamoxifen-inducible Pax9-CreER Knock-In Mice using CrispR/Cas9. Genesis. 2016 Sep;54(9):490-6. doi: 10.1002/dvg.22956. Epub 2016 Jul 26. PubMed PMID: 27381449; PubMed Central PMCID: PMC5021577.

  11. Li WL, Buckley J, Sanchez-Lara PA, Maglinte DT, Viduetsky L, Tatarinova TV, Aparicio JG, Kim JW, Au M, Ostrow D, Lee TC, O Gorman M, Judkins A, Cobrinik D, Triche TJ. (2016) A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families. J Mol Diagn. 2016 Jul;18(4):480-93. doi: 10.1016/j.jmoldx.2016.02.006. Epub 2016 May 4. PubMed PMID: 27155049.

  12. Sanchez-Lara PA. (2015) Clinical and Genomic Approaches for the Diagnosis of Craniofacial Disorders. Curr Top Dev Biol. 2015;115:543-59. doi:10.1016/bs.ctdb.2015.09.004. Epub 2015 Oct 26. Review. PubMed PMID: 26589937.

  13. Parada C, Han D, Grimaldi A, Sarrión P, Park SS, Pelikan R, Sanchez-Lara PA, Chai Y. (2015) Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence. Development. 2015 Nov 1;142(21):3734-45. doi:10.1242/dev.125328. Epub 2015 Sep 22. PubMed PMID: 26395480; PubMed Central PMCID: PMC4647211.

  14. Figueiredo JC, Ly S, Magee KS, Ihenacho U, Baurley JW, Sanchez-Lara PA, Brindopke F, Nguyen TH, Nguyen V, Tangco MI, Giron M, Abrahams T, Jang G, Vu A, Zolfaghari E, Yao CA, Foong A, DeClerk YA, Samet JM, Magee W 3rd. (2015) Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans. Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):863-79. doi: 10.1002/bdra.23417. Epub 2015 Aug 25. PubMed PMID: 26466527; PubMed Central PMCID: PMC5049483.

  15. Ho TV, Iwata J, Ho HA, Grimes WC, Park S, Sanchez-Lara PA, Chai Y. (2015) Integration of comprehensive 3D microCT and signaling analysis reveals differential regulatory mechanisms of craniofacial bone development. Dev Biol. 2015 Apr 15;400(2):180-90. doi: 10.1016/j.ydbio.2015.02.010. Epub 2015 Feb 23. PubMed PMID: 25722190; PubMed Central PMCID: PMC4385433.

  16. Sahoo T, Wang JC, Elnaggar MM, Sanchez-Lara P, Ross LP, Mahon LW, Hafezi K, Deming A, Hinman L, Bruno Y, Bartley JA, Liehr T, Anguiano A, Jones M. (2015) Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. Eur J Hum Genet. 2015 Jan;23(1):61-6. doi: 10.1038/ejhg.2014.53. Epub 2014 Apr 9. PubMed PMID: 24713661; PubMed Central PMCID: PMC4266739.

  17. Slavkin HC, Sanchez-Lara PA, Chai Y, Urata M. (2014) A model for interprofessional health care: lessons learned from craniofacial teams. J Calif Dent Assoc. 2014 Sep;42(9):637-44. PubMed PMID: 25265730.

  18. Figueiredo JC, Ly S, Raimondi H, Magee K, Baurley JW, Sanchez-Lara PA, Ihenacho U, Yao C, Edlund CK, van den Berg D, Casey G, DeClerk YA, Samet JM, Magee W 3rd. (2014) Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians. Am J Med Genet A. 2014 Oct;164A(10):2572-80. doi:10.1002/ajmg.a.36693. Epub 2014 Aug 5. PubMed PMID: 25099202.

  19. Iwata J, Suzuki A, Yokota T, Ho TV, Pelikan R, Urata M, Sanchez-Lara PA, Chai Y. (2014) TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate. Development. 2014 Feb;141(4):909-17. doi: 10.1242/dev.103093. PubMed PMID: 24496627; PubMed Central PMCID: PMC3912833.

  20. Iwata J, Suzuki A, Pelikan RC, Ho TV, Sanchez-Lara PA, Chai Y. (2014) Modulation of Lipid Metabolic Defects Rescues Cleft Palate in Tgfbr2 Mutant Mice. Hum Mol Genet. 2014 Jan 1;23(1):182-93. doi: 10.1093/hmg/ddt410. Epub 2013 Aug 23. PubMed PMID: 23975680; PubMed Central PMCID: PMC3857953.

  21. Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. (2014) Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy? Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. PubMed PMID: 23379592; PubMed Central PMCID: PMC4480871.

  22. Sanchez-Lara PA. (2013) Erratum: Impact of stem cells in craniofacial regenerative medicine. Front Physiol. 2013 Aug 29;4:219. eCollection 2013. PubMed PMID: 24009585; PubMed Central PMCID: PMC3756300.

  23. Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, et al. (2013) Investigation of NRXN1 deletions: Clinical and molecular characterization. Am J Med Genet A. 2013 Apr;161(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. PubMed PMID: 23495017.

  24. Iwata J, Suzuki A, Pelikan RC, Ho TV, Sanchez-Lara PA, Urata M, Dixon MJ, Chai Y. (2013) Smad4-Irf6 genetic interaction and TGF-mediated IRF6 signaling cascade are crucial for palatal fusion in mice. Development. 2013 Mar;140(6):1220-30. doi: 10.1242/dev.089615. Epub 2013 Feb 13. PubMed PMID: 23406900; PubMed Central PMCID: PMC3585659.

  25. Borzabadi-Farahani A, Gross J, Sanchez-Lara P, Yen SL. (2013) An unusual accessory mandible and a sub-mucosal cleft palate-a case report and review of the literature. Cleft Palate Craniofac J. 2013 May;50(3):369-75. doi: 10.1597/11-032. Epub 2012 Oct 31. PubMed PMID: 22404912.

  26. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Sanchez-Lara PA, etc. (2012) A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18. PubMed PMID: 23160099.

  27. Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. (2012) Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10. PubMed PMID: 22965664; PubMed Central PMCID: PMC3448816.

  28. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. (2012) ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13. PubMed PMID: 22829454; PubMed Central PMCID: PMC3495992.

  29. Soltani AM, Francis CS, Motamed A, Karatsonyi AL, Hammoudeh JA, Sanchez-Lara PA, Reinisch JF, Urata MM. (2012) Hypertrophic scarring in cleft lip repair: a comparison of incidence among ethnic groups. Clin Epidemiol. 2012;4:187-91. doi: 10.2147/CLEP.S31119. Epub 2012 Jul 26. PubMed PMID: 22879780; PubMed Central PMCID: PMC3413167.

  30. Moh W, Graham JM Jr, Wadhawan I, Sanchez-Lara PA. (2012) Extrinsic factors influencing fetal deformations and intrauterine growth restriction. J Pregnancy. 2012;2012:750485. doi: 10.1155/2012/750485. Epub 2012 Jul 19. PubMed PMID: 22888434; PubMed Central PMCID: PMC3409542.

  31. Sanchez-Lara PA, Warburton D. (2012) Impact of stem cells in craniofacial regenerative medicine. Front Physiol. 2012 Jun 21;3:188. doi: 10.3389/fphys.2012.00188. eCollection 2012. Erratum in: Front Physiol. 2013;4:219. Zhao, Hu [removed]; Bajpai, Ruchi [removed]; Abdelhamid, Alaa I [removed]. PubMed PMID: 22737127; PubMed Central PMCID: PMC3380335.

  32. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. (2012) The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. PubMed PMID: 22711679; PubMed Central PMCID: PMC3402612.

  33. Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. (2012) Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26. PubMed PMID: 22451504; PubMed Central PMCID: PMC3338925.

  34. Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. (2012) Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Med Genet. 2012 Mar 22;13:19. doi: 10.1186/1471-2350-13-19. Review. PubMed PMID: 22436304; PubMed Central PMCID:PMC3359208.

  35. Iwata J, Hacia J, Suzuki A, Sanchez-Lara P, Urata M, Chai Y. (2012) Modulation of non-canonical TGF-beta signaling prevents cleft palate in Tgfbr2 mutant mice. J Clin Invest. 2012 Mar 1;122(3):873-85. doi: 10.1172/JCI61498. Epub 2012 Feb 13. PubMed PMID: 22326956; PubMed Central PMCID: PMC3287237.

  36. Iwata J, Tung L, Urata M, Hacia JG, Pelikan R, Suzuki A, Ramenzoni L, Chaudhry O, Parada C, Sanchez-Lara PA, Chai Y. (2012) Fibroblast growth factor 9 (FGF9)-pituitary homeobox 2 (PITX2) pathway mediates transforming growth factor beta (TGFb) signaling to regulate cell proliferation in palatal mesenchyme during mouse palatogenesis. J Biol Chem. 2012 Jan 20;287(4):2353-63. Epub 2011 Nov 28. PubMed PMID: 22123828;PubMed Central PMCID: PMC3268397.

  37. Borzabadi-Farahani A, Yen SL, Yamashita DD, Sanchez-Lara PA. (2012) Bilateral maxillary duplication: Case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012 May;113(5):e29-32. doi: 10.1016/j.tripleo.2011.06.017. Epub 2011 Sep 16. PubMed PMID: 22676989.

  38. Hammoudeh J, Bindingnavele VK, Davis B, Davidson Ward SL, Sanchez-Lara PA, Kleiber G, Nazarian Mobin SS, Francis CS, Urata MM. (2012) Neonatal and infant mandibular distraction as an alternative to tracheostomy in severe obstructive sleep apnea. Cleft Palate Craniofac J. 2012 Jan;49(1):32-8. Epub 2010 Nov 30. PubMed PMID: 21121766.

  39. Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG. (2011) Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30. PubMed PMID: 21093335.

  40. Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. (2011) Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet A. 2011 Jul;155A(7):1646-53. doi: 10.1002/ajmg.a.34063. Epub 2011 Jun 10. PubMed PMID:21671386; PubMed Central PMCID: PMC3121907.

  41. Iwata J, Hosokawa R, Sanchez-Lara PA, Urata M, Slavkin H, Chai Y. (2010) Transforming growth factor-beta regulates basal transcriptional regulatory machinery to control cell proliferation and differentiation in cranial neural crest-derived osteoprogenitor cells. J Biol Chem. 2010 Feb 12;285(7):4975-82. PubMed PMID: 19959467; PubMed Central PMCID: PMC2836101.

  42. Sanchez-Lara PA, Carmichael SL, Graham JM Jr, Lammer EJ, Shaw GM, Ma C, Rasmussen SA; National Birth Defects Prevention Study. (2010) Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet A. 2010 Feb;152A(2):394-400. doi: 10.1002/ajmg.a.33246. PubMed PMID: 20101684; PubMed Central PMCID: PMC2815148.

  43. Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. (2008) Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. PubMed PMID: 18524659; PubMed Central PMCID: PMC2572572.

  44. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. (2007) Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008. PubMed PMID: 18000912.

  45. Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M. (2007) The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation. Am J Med Genet A. 2007 Dec 15;143A(24):3243-51. PubMed PMID: 18000970.

  46. Laury A, Sanchez-Lara PA, Pepkowitz S, Graham JM Jr. (2007) A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000. Am J Med Genet A. 2007 Dec 15;143A(24):3107-20. PubMed PMID: 18000978.

  47. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10. PubMed PMID: 16773578; PubMed Central PMCID: PMC1474136.

  48. Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. (2006) Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat. 2006 May;27(5):436-43. PubMed PMID: 16575836.