Megan Hitchins, PhD

Cancer etiology Unusual mechanisms for "high-risk" cancer syndromes, including gastrointestinal, gynecologic, urothelial, and skin cancers Early age-of-onset colorectal cancer Genetic and Epigenetic biomarkers for cancer risk Biomarkers for early detection of cancer and recurrences in liquid biopsies e.g. circulating tumor DNA

Associations

• Cancer Epidemiology
• Cancer Epidemiology Program

Dr. Hitchins is a translational cancer geneticist and epigeneticist. She has made seminal contributions to our understanding of the role, molecular diagnosis, prevalence, and inheritance of “constitutional epimutation” in cancer causation. Constitutional epimutation is an under-recognized alternative cause (to a germline pathogenic variant) for familial and early-onset cancer syndromes, including Lynch syndrome. While constitutional epimutations of the MLH1 mismatch repair gene appear to “phenocopy” Lynch syndrome in terms of the cancer risks and types conferred, they display variable inter-generational inheritance patterns in cancer-affected families. In some families, inheritance is “non-Mendelian”, as observed by the transmission of the epimutation to a proportion of children but it’s erasure in others, despite inheriting the same copy of the gene. In other cases, inheritance follows predictable genetic patterns because the epimutation arises as a secondary consequence of an underlying “cryptic” non-coding genetic variant, such as a gene promoter variant that alters gene activity. This requires extended genetic and epigenetic analyses in individual families on a case-by-case basis, which informs tailored genetic counseling and clinical management. Dr. Hitchins is also developing minimally-invasive, blood-based biomarker assays for bowel cancer screening and for monitoring patients with bowel cancer who are undergoing treatment to detect cancer recurrence or measure response to treatment. These tests are based on the detection of plasma circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) via altered biomarker signals. She is particularly interested in the rapid rise in bowel cancer among the younger population.

• Alvarez R, Climent-Cantó P, Shin G, Aguirre FP, Zhou L, Hazelett DJ, Larson BK, Vara C, Capellá G, Castellanos VL, Rubio PG, Desseigne F, Ji H, Cook J, Durkie M, Pineda M, Leclerc J, Hitchins MP. MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome. Familial Cancer. 2025 Jul.24(3):59. Pubmedid: 40715574. Pmcid: PMC12330223.
• Hussain Y, Bannaga A, Fisher N, Krishnamoorthy A, Kimani P, Malik A, Truslove M, Joshi S, Hitchins M, Abbasi A, Corbett C, Brookes M, Randeva H, Than NN, Arasaradnam RP. The Fatty Liver, Cirrhosis, and Liver Cancer Study (TENDENCY): Protocol for a Multicenter Case-Control Study. JMIR Res Protoc. 2023 May.12:e44264. Pubmedid: 37256650. Pmcid: PMC10267778.
• Bikhchandani M, Amersi F, Hendifar A, Gangi A, Osipov A, Zaghiyan K, Atkins K, Cho M, Aguirre F, Hazelett D, Alvarez R, Zhou L, Hitchins M, Gong J. POLE-Mutant Colon Cancer Treated with PD-1 Blockade Showing Clearance of Circulating Tumor DNA and Prolonged Disease-Free Interval. Genes (Basel). 2023 May.14(5). Pubmedid: 37239414. Pmcid: PMC10218075.
• Hitchins MP, Dámaso E, Alvarez R, Zhou L, Hu Y, Diniz MA, Pineda M, Capella G, Pearlman R, Hampel H. Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger. J Natl Compr Canc Ne. 2023 Jul.21(7):743-752.e11. Pubmedid: 37433431. Pmcid: PMC11578100.
• Ebia MI, Hitchins MP, Hendifar AE. Immunotherapy for deficient mismatch repair (dMMR) pancreatic ductal adenocarcinoma. J Gastrointest Oncol. 2023 Apr.14(2):1175-1177. Pubmedid: 37201064. Pmcid: PMC10186511.
• Qureshi N, Hoffman TL, Kaneva K, Zomorrodian S, Scapa JV, Hitchins MP, Federman N. Pediatric Rectal Adenocarcinoma With Mismatch Repair Deficiency Responds to Immunotherapy. JCO Precis Oncol. 2023 Apr.7:e2200378. Pubmedid: 37053536. Pmcid: PMC10309547.
• Hitchins MP, Alvarez R, Zhou L, Aguirre F, Dámaso E, Pineda M, Capella G, Wong JJ, Yuan X, Ryan SR, Sathe DS, Baxter MD, Cannon T, Biswas R, DeMarco T, Grzelak D, Hampel H, Pearlman R. MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutation. Gynecol Oncol. 2023 Apr.171:129-140. Pubmedid: 36893489. Pmcid: PMC10153467.
• Gong J, Aguirre F, Hazelett D, Alvarez R, Zhou L, Hendifar A, Osipov A, Zaghiyan K, Cho M, Gangi A, Hitchins M. Circulating tumor DNA dynamics and response to immunotherapy in colorectal cancer. Mol Clin Oncol. 2022 May.16(5):100. Pubmedid: 35463213. Pmcid: PMC9022091.
• Loomans-Kropp HA, Song Y, Gala M, Parikh AR, Van Seventer EE, Alvarez R, Hitchins MP, Shoemaker RH, Umar A. Methylated Septin9 (mSEPT9): A promising blood-based biomarker for the detection and screening of early-onset colorectal cancer. Cancer Res Commun. 2022 Feb.2(2):90-98. Pubmedid: 35992328. Pmcid: PMC9387652.
• Vogelaar IP, Greer S, Wang F, Shin G, Lau B, Hu Y, Haraldsdottir S, Alvarez R, Hazelett D, Nguyen P, Aguirre FP, Guindi M, Hendifar A, Balcom J, Leininger A, Fairbank B, Ji H, Hitchins MP. Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS. Cancers (Basel). 2022 Dec.15(1). Pubmedid: 36612224. Pmcid: PMC9818763.
• Chandrapalan S, Bannaga A, Weidner A, Hitchins MP, Arasaradnam RP. A systematic review and meta-analysis: the diagnostic accuracy of methylated SEPTIN9 for the detection of hepatocellular carcinoma and the clinical evaluation of its use in combination with other surveillance modalities. Scand J Gastroenterol. 2022 Apr.57(4):473-480. Pubmedid: 34957898.
• Gong J, Hendifar A, Gangi A, Zaghiyan K, Atkins K, Nasseri Y, Murrell Z, Figueiredo JC, Salvy S, Haile R, Hitchins M. Clinical Applications of Minimal Residual Disease Assessments by Tumor-Informed and Tumor-Uninformed Circulating Tumor DNA in Colorectal Cancer. Cancers (Basel). 2021 Sep.13(18). Pubmedid: 34572774. Pmcid: PMC8471730.
• Bannaga AS, Alvarez R, Zhou L, Petchey M, Noufaily A, Hitchins MP, Arasaradnam RP. Role of methylated septin 9 as an adjunct diagnostic and prognostic biomarker in hepatocellular carcinoma. HPB (Oxford). 2021 Oct.23(10):1595-1606. Pubmedid: 33931320.
• Brennan K, Metzner TJ, Kao CS, Massie CE, Stewart GD, Haile RW, Brooks JD, Hitchins MP, Leppert JT, Gevaert O. Development of a DNA Methylation-Based Diagnostic Signature to Distinguish Benign Oncocytoma From Renal Cell Carcinoma. JCO Precis Oncol. 2020 Sep.4. Pubmedid: 33015531. Pmcid: PMC7529536.
• Howard LE, Zhang J, Fishbane N, Hoedt AM, Klaassen Z, Spratt DE, Vidal AC, Lin D, Hitchins MP, You S, Freeman MR, Yamoah K, Davicioni E, Freedland SJ. Validation of a genomic classifier for prediction of metastasis and prostate cancer-specific mortality in African-American men following radical prostatectomy in an equal access healthcare setting. Prostate Cancer P D. 2020 Sep.23(3):419-428. Pubmedid: 31844180.
• Hitchins M. The cheques and balances of national universal screening of patients with new colorectal cancer for Lynch syndrome. Med J Aust. 2020 Feb.212(2):69-70. Pubmedid: 31825091.
• Dámaso E, Canet-Hermida J, Vargas-Parra G, Velasco À, Marín F, Darder E, Del Valle J, Fernández A, Izquierdo À, Mateu G, Oliveras G, Escribano C, Piñol V, Uchima HI, Soto JL, Hitchins M, Farrés R, Lázaro C, Queralt B, Brunet J, Capellá G, Pineda M. Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation. Clin Epigenetics. 2019 Nov.11(1):171. Pubmedid: 31779681. Pmcid: PMC6883525.
• Hitchins MP, Vogelaar IP, Brennan K, Haraldsdottir S, Zhou N, Martin B, Alvarez R, Yuan X, Kim S, Guindi M, Hendifar AE, Kalady MF, DeVecchio J, Church JM, de la Chapelle A, Hampel H, Pearlman R, Christensen M, Snyder C, Lanspa SJ, Haile RW, Lynch HT. Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome. BMJ Open Gastroenterol. 2019 May.6(1):e000299. Pubmedid: 31275589. Pmcid: PMC6577308.
• Hendifar AE, Larson BK, Rojansky R, Guan M, Gong J, Placencio V, Tuli R, Hitchins M. Pancreatic cancer 'mismatch' in Lynch syndrome. BMJ Open Gastroenterol. 2019 Mar.6(1):e000274. Pubmedid: 31275582. Pmcid: PMC6577306.
• Gong J, Robertson MD, Kim E, Fakih M, Schrock AB, Tam KW, Burugapalli B, Monjazeb AM, Hendifar AE, Hitchins M, Klempner SJ, Cho M. Efficacy of PD-1 Blockade in Refractory Microsatellite-Stable Colorectal Cancer With High Tumor Mutation Burden. Clin Colorectal Cancer. 2019 Dec.18(4):307-309. Pubmedid: 31563511.
• Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G. Primary constitutional MLH1 epimutations: a focal epigenetic event. Brit J Cancer. 2018 Oct.119(8):978-987. Pubmedid: 30283143. Pmcid: PMC6203851.
• Lynch HT, Lanspa S, Shaw T, Casey MJ, Rendell M, Stacey M, Townley T, Snyder C, Hitchins M, Bailey-Wilson J. Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge. Familial Cancer. 2018 Jul.17(3):403-414. Pubmedid: 29071502.
• Aronica L, Levine AJ, Brennan K, Mi J, Gardner C, Haile RW, Hitchins MP. A systematic review of studies of DNA methylation in the context of a weight loss intervention. Epigenomics. 2017 May.9(5):769-787. Pubmedid: 28517981.
• Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun. 2017 May.8:14755. Pubmedid: 28466842. Pmcid: PMC5418568.
• Hitchins MP. Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation. Familial Cancer. 2016 Jul.15(3):413-422. Pubmedid: 26886015.
• Kuroiwa-Trzmielina J, Wang F, Rapkins RW, Ward RL, Buchanan DD, Win AK, Clendenning M, Rosty C, Southey MC, Winship IM, Hopper JL, Jenkins MA, Olivier J, Hawkins NJ, Hitchins MP. SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer. Clin Cancer Res. 2016 Dec.22(24):6266-6277. Pubmedid: 27267851. Pmcid: PMC5143212.
• Hitchins MP. Constitutional epimutation as a mechanism for cancer causality and heritability?. Nat Rev Cancer. 2015 Oct.15(10):625-634. Pubmedid: 26383139.
• Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 2015 Mar.15(3):181-194. Pubmedid: 25673086.
• Kwok CT, Hitchins MP. Allele Quantification Pyrosequencing® at Designated SNP Sites to Detect Allelic Expression Imbalance and Loss-of-Heterozygosity. Methods Mol Biol. 2015 Jan.1315:153-171. Pubmedid: 26103898.
• Yamashita N, Tokunaga E, Kitao H, Hitchins M, Inoue Y, Tanaka K, Hisamatsu Y, Taketani K, Akiyoshi S, Okada S, Oda Y, Saeki H, Oki E, Maehara Y. Epigenetic Inactivation of BRCA1 Through Promoter Hypermethylation and Its Clinical Importance in Triple-Negative Breast Cancer. Clin Breast Cancer. 2015 Dec.15(6):498-504. Pubmedid: 26195437.
• Rapkins RW, Wang F, Nguyen HN, Cloughesy TF, Lai A, Ha W, Nowak AK, Hitchins MP, McDonald KL. The MGMT promoter SNP rs16906252 is a risk factor for MGMT methylation in glioblastoma and is predictive of response to temozolomide. Neurooncol. 2015 Dec.17(12):1589-1598. Pubmedid: 25910840. Pmcid: PMC4633927.
• Jacob F, Hitchins MP, Fedier A, Brennan K, Nixdorf S, Hacker NF, Ward R, Heinzelmann-Schwarz VA. Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells. BMC Mol Biol. 2014 Oct.15:24. Pubmedid: 25294702. Pmcid: PMC4193910.
• Hitchins MP, Lynch HT. Dawning of the epigenetic era in hereditary cancer. Clin Genet. 2014 May.85(5):413-416. Pubmedid: 24588205.
• Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP. The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. Eur J Hum Genet. 2014 May.22(5):617-624. Pubmedid: 24084575. Pmcid: PMC3992563.
• Hitchins MP. The role of epigenetics in Lynch syndrome. Familial Cancer. 2013 Jun.12(2):189-205. Pubmedid: 23462881.
• Collison A, Siegle JS, Hansbro NG, Kwok CT, Herbert C, Mattes J, Hitchins M, Foster PS, Kumar RK. Epigenetic changes associated with disease progression in a mouse model of childhood allergic asthma. Dis Model Mech. 2013 Jul.6(4):993-1000. Pubmedid: 23611895. Pmcid: PMC3701218.
• McDonald KL, Rapkins RW, Olivier J, Zhao L, Nozue K, Lu D, Tiwari S, Kuroiwa-Trzmielina J, Brewer J, Wheeler HR, Hitchins MP. The T genotype of the MGMT C>T (rs16906252) enhancer single-nucleotide polymorphism (SNP) is associated with promoter methylation and longer survival in glioblastoma patients. Eur J Cancer. 2013 Jan.49(2):360-368. Pubmedid: 22975219.
• Ward RL, Dobbins T, Lindor NM, Rapkins RW, Hitchins MP. Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med. 2013 Jan.15(1):25-35. Pubmedid: 22878509. Pmcid: PMC3908650.
• Hitchins MP, Burn J. Alu in Lynch syndrome: a danger SINE?. Cancer Prev Res (Phila). 2011 Oct.4(10):1527-1530. Pubmedid: 21972078.
• Hitchins MP, Owens SE, Kwok CT, Godsmark G, Algar UF, Ramesar RS. Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort. Clin Genet. 2011 Nov.80(5):428-434. Pubmedid: 21375527.
• Wong JJ, Hawkins NJ, Ward RL, Hitchins MP. Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer. Mod Pathol. 2011 Mar.24(3):396-411. Pubmedid: 21102416.
• Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT, Packham D, Lipton L, Boland CR, Ward RL, Hitchins MP. De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one. Int J Cancer. 2011 Feb.128(4):869-878. Pubmedid: 20473912. Pmcid: PMC3794437.
• Hitchins MP, Rapkins RW, Kwok CT, Srivastava S, Wong JJ, Khachigian LM, Polly P, Goldblatt J, Ward RL. Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. Cancer Cell. 2011 Aug.20(2):200-213. Pubmedid: 21840485.
• Kwok CT, Ward RL, Hawkins NJ, Hitchins MP. Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome. Familial Cancer. 2010 Sep.9(3):345-356. Pubmedid: 20063070.
• Hitchins MP. Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. Adv Genet. 2010 Nov.70:201-243. Pubmedid: 20920750.
• Hesson LB, Hitchins MP, Ward RL. Epimutations and cancer predisposition: importance and mechanisms. Curr Opin Genet Dev. 2010 Jun.20(3):290-298. Pubmedid: 20359882.
• Hitchins MP, Ward RL. Favoritism in DNA methylation. Cancer Prev Res (Phila). 2009 Oct.2(10):847-849. Pubmedid: 19789293.
• Packham D, Ward RL, Ap Lin V, Hawkins NJ, Hitchins MP. Implementation of novel pyrosequencing assays to screen for common mutations of BRAF and KRAS in a cohort of sporadic colorectal cancers. Diagn Mol Pathol. 2009 Jun.18(2):62-71. Pubmedid: 19430299.
• Kumar RK, Hitchins MP, Foster PS. Epigenetic changes in childhood asthma. Dis Model Mech. 2009 Feb.2(11-12):549-553. Pubmedid: 19892885.
• Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009 Dec.46(12):793-802. Pubmedid: 19564652.
• Hawkins NJ, Lee JH, Wong JJ, Kwok CT, Ward RL, Hitchins MP. MGMT methylation is associated primarily with the germline C>T SNP (rs16906252) in colorectal cancer and normal colonic mucosa. Mod Pathol. 2009 Dec.22(12):1588-1599. Pubmedid: 19734844.
• Monk M, Hitchins M, Hawes S. Differential expression of the embryo/cancer gene ECSA(DPPA2), the cancer/testis gene BORIS and the pluripotency structural gene OCT4, in human preimplantation development. Mol Hum Reprod. 2008 Jun.14(6):347-355. Pubmedid: 18467432.
• Hitchins MP, Ward RL. MLH1 germ-line epimutations: is there strong evidence of its inheritance?. Gastroenterology. 2008 Jan.134(1):359-360. Pubmedid: 18166368.
• Hitchins MP, Lin VA, Buckle A, Cheong K, Halani N, Ku S, Kwok CT, Packham D, Suter CM, Meagher A, Stirzaker C, Clark S, Hawkins NJ, Ward RL. Epigenetic inactivation of a cluster of genes flanking MLH1 in microsatellite-unstable colorectal cancer. Cancer Res. 2007 Oct.67(19):9107-9116. Pubmedid: 17909015.
• Hitchins MP, Ward RL. Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance. Nat Genetics. 2007 Nov.39(11):1289. Pubmedid: 17968340.
• Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, Ward RL. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med. 2007 Feb.356(7):697-705. Pubmedid: 17301300.
• Colebatch A, Hitchins M, Williams R, Meagher A, Hawkins NJ, Ward RL. The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. Brit J Cancer. 2006 Nov.95(9):1239-1243. Pubmedid: 17031395. Pmcid: PMC2360566.
• Hitchins M, Suter C, Wong J, Cheong K, Hawkins N, Leggett B, Scott R, Spigelman A, Tomlinson I, Martin D, Ward R. Germline epimutations of APC are not associated with inherited colorectal polyposis. Gut. 2006 Apr.55(4):586-587. Pubmedid: 16531545. Pmcid: PMC1856153.
• Hitchins M, Williams R, Cheong K, Halani N, Lin VA, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology. 2005 Nov.129(5):1392-1399. Pubmedid: 16285940.
• Hitchins MP, Rickard S, Dhalla F, Fairbrother UL, de Vries BB, Winter R, Pembrey ME, Malcolm S. Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. Am J Med Genet A. 2004 Mar.125A(2):167-172. Pubmedid: 14981718.
• Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey G. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet. 2003 May.12(9):1005-1019. Pubmedid: 12700169.
• Patel P, Weerasekera N, Hitchins M, Boyd CA, Johnston DG, Williamson C. Semi quantitative expression analysis of MDR3, FIC1, BSEP, OATP-A, OATP-C,OATP-D, OATP-E and NTCP gene transcripts in 1st and 3rd trimester human placenta. Placenta. 2003 Jan.24(1):39-44. Pubmedid: 12495658.
• Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. 2002 Oct.111(4-5):376-387. Pubmedid: 12384779.
• Hitchins MP, Moore GE. Genomic imprinting in fetal growth and development. Expert Rev Mol Med. 2002 May.4(11):1-19. Pubmedid: 14987379.
• Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA, Moore GE. Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. J Med Genet. 2002 Mar.39(3):E13. Pubmedid: 11897833. Pmcid: PMC1735072.
• Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet. 2002 Jul.11(15):1743-1756. Pubmedid: 12095916.
• Hitchins MP, Bentley L, Monk D, Beechey C, Peters J, Kelsey G, Ishino F, Preece MA, Stanier P, Moore GE. DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome. 2002 Dec.13(12):686-691. Pubmedid: 12514746.
• Monk D, Bentley L, Beechey C, Hitchins M, Peters J, Preece MA, Stanier P, Moore GE. Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. J Med Genet. 2002 Aug.39(8):575-581. Pubmedid: 12161597. Pmcid: PMC1735212.
• Graf D, Timmons PM, Hitchins M, Episkopou V, Moore G, Ito T, Fujiyama A, Fisher AG, Merkenschlager M. Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation. Mamm Genome. 2001 Jul.12(7):554-560. Pubmedid: 11420619.
• Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet. 2001 Feb.9(2):82-90. Pubmedid: 11313740.
• Mergenthaler S, Hitchins MP, Blagitko-Dorfs N, Monk D, Wollmann HA, Ranke MB, Ropers HH, Apostolidou S, Stanier P, Preece MA, Eggermann T, Kalscheuer VM, Moore GE. Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?. Am J Hum Genet. 2001 Feb.68(2):543-545. Pubmedid: 11170901. Pmcid: PMC1235290.
• Hitchins MP, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet. 2001 Dec.38(12):810-819. Pubmedid: 11748303. Pmcid: PMC1734774.
• Monk D, Hitchins M, Russo S, Preece M, Stanier P, Moore GE. No evidence for mosaicism in Silver-Russell syndrome. J Med Genet. 2001 Apr.38(4):E11. Pubmedid: 11283207. Pmcid: PMC1734842.
• Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA. Silver-Russell syndrome and ring chromosome 7. J Med Genet. 2000 May.37(5):380. Pubmedid: 10905891. Pmcid: PMC1734598.
• Wakeling EL, Hitchins MP, Abu-Amero SN, Stanier P, Moore GE, Preece MA. Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. J Med Genet. 2000 Jan.37(1):65-67. Pubmedid: 10691413. Pmcid: PMC1734447.
• Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet. 2000 Jan.66(1):36-46. Pubmedid: 10631135. Pmcid: PMC1288348.
• Morton CC, Christian SL, Donlon TA, Driscoll DJ, Fink JK, Gabriel JM, Gotway G, Greally JM, Hitchins MP, Howard HC, Ji Y, Leonard S, Lerner T, Magenis E, Malcolm S, Ohta T, Rainier S, Rees M, Riley B, Robinson WP, Saitoh S, Schultz R, Sell S, Sharp JD, Nicholls RD. Report of the fourth international workshop on human chromosome 15 mapping 1997. Cytogenet Cell Genet. 1999 Jun.84(1-2):12-21. Pubmedid: 10343092.
• Moore GE, Abu-Amero S, Wakeling E, Hitchins M, Monk D, Stanier P, Preece M. The search for the gene for Silver-Russell syndrome. Acta Paediatr Suppl. 1999 Dec.88(433):42-48. Pubmedid: 10626544.
• McCarthy MI, Hitman GA, Hitchins M, Riikonen A, Stengård J, Nissinen A, Tuomilehto-Wolf E, Tuomilehto J. Glucokinase gene polymorphisms: a genetic marker for glucose intolerance in a cohort of elderly Finnish men. Diabet Med. 1994 Mar.11(2):198-204. Pubmedid: 8200207.
• McCarthy MI, Hitchins M, Hitman GA, Cassell P, Hawrami K, Morton N, Mohan V, Ramachandran A, Snehalatha C, Viswanathan M. Positive association in the absence of linkage suggests a minor role for the glucokinase gene in the pathogenesis of type 2 (non-insulin-dependent) diabetes mellitus amongst south Indians. Diabetologia. 1993 Jul.36(7):633-641. Pubmedid: 8359581.