1.      Courtright P, Green R, Pilarski R, Smucny J. A survey of the eye complications of leprosy in South Korea. Lepr Rev 1984;55(3):229-237.

2.      Pilarski RT, Pauli RM, Bresnick GH, Lebovitz RM.  Karsch-Neugebauer Syndrome: Split Hand/Split Foot and Congenital Nystagmus.  Clin Genet 1985; 27:97-101.

3.      Pilarski RT, Pauli RM, Engber WD. Hand-Reduction Malformations:   Genetic and Syndromic Analysis.  J Pediatr Orthop 1985; 5:274-280.

4.      Pilarski RT, Greenstein RM, Benn P.  Developing a Role for Genetics Within a Cancer Program; Ann NY Acad Sci 1995; 768:258-260.

5.      Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtiian S, Teng DHF, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujumura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Gilewski T, Norton L, Brown K, Schulz C, Hampel H, Schluger A, Giulotto E, Zoli W, Ravaioli A, Nevanlinna H, Pyrhonen S, Rowley P, Scalia J, Michaelson R, Scottt R, Radice P, Pierotti M, Garber J, Isaacs C, Peshkin B, Lippman M, Dosik M, Caligo M, Greenstein R, Pilarski RT, Weber B, Burgemeister R, Frank T, Skolnick M, Thomas A. BRCA1 sequence analysis in women at high risk for susceptibility mutations.  JAMA 1997;278(15): 1242-50.

6.      Pilarski RT, Greenstein RM. Cancer Gene Testing? (Letter to the Editor) Connecticut Medicine 1998; 62(4):248.

7.      Pilarski RT, Brothman AR, Benn P, Rosengren S. Attenuated Familial Adenomatous Polyposis in an Adult with an Interstitial Deletion of Chromosome 5q.  Am J Med Genet 1999;86:321-324.

8.      Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin J-P, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IPM, Eng C. Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes. Am J Hum Genet 2001;69:704-711.

9.      Pilarski R, Hampel H, Eng C (2001-2005) PTEN Hamartoma Tumor Syndrome (PHTS) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1998-2006. Available at http://www.genetests.org/.

10.  Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, and Eng C. Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway. Am J Hum Genet 73:404-411, 2003

11.  Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, and Eng, C. Unusual Features in a Patient with Neurofibromatosis Type 1: Multiple Subcutaneous Lipomas, a Juvenile Polyp in Ascending Colon, Congenital Intrahepatic Portosystemic Venous Shunt, and Horseshoe Kidney. Am J Med Genet 2004; 127A:298-301.

12.  Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004; 41:323-326.

13.  McWhinney SR, Pilarski RT, Forrester SR, Schneider MC, Sarquis MM, Dias EP and Eng C. Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary Parganglioma. J Clin Endocrinol Metab 2004; 89:5694-5699.

14.  Butler MG, Dasouki MJ, Zhou X-P, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations. J Med Genet 2005;42:318-321.

15.  Sweet K, MS, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Ted BT, Marchuk DA, Aaltonen LA, Eng C. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. J Am Med Assoc 2005;294: 2465-2473.

16.  Agrawal, S, Pilarski R, Eng C. Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. Hum Mol Genet. 2005;14(16):2459-68.

17.  Pyatt RE, Pilarski R, Prior TW. Mutation Screening in Juvenile Polyposis syndrome.  J Mol Diagn, 2006;8:84-88.

18. Sarquis M, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng, C. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet. 2006;79:23-30.

19. Pezzolesi M, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Mutation positive and mutation negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome associated with distinct 10q haplotypes. Am J Hum Genet. 2006;79(5):923-934.

20. Tekin M, Ozturk Hismi B, Fitoz S, Yalcinkaya F, Ekim M, Kansu A, Ertem M, Deda G, Tutar E, Arsan S, Zhou XP, Pilarski R, Eng C, Akar N. A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus. Am J Med Genet 2006 Part A 140A:1472-1475.

21. Pilarski R, Cowden syndrome: a critical review of the clinical literature. J Genet Couns (in press).

22. Guler, G, Huebner, K, Himmetoglu, C, Jimenez^, R, Costinean, S, Volinia, S, Pilarski, RT, Hayran, M, Charles L. Shapiro^#, CL. Fhit, Wwox and AP2g expression levels correlate with basal phenotype in breast cancer. Cancer (in press).