Publications, Posters & Presentations

The Laboratory for Molecular Medicine (LMM) is dedicated promoting the advancement of genetic and genomic knowledge, particularly in the areas of personalized medicine and clinical care. The LMM is continually working to educate and inform patients and medical professionals on our discoveries and their impact on clinical care.

Latest Announcement: Read the Boston Globe highlight on the Laboratory for Molecular Medicine now offering Clinical Genome Sequencing Service.

Journal Articles

2012

Aronson SJ, Clark EH, Varugheese M, Baxter S, Babb LJ, Rehm HL. Communicating New Knowledge on Previously Reported Genetic Variants. Genet Med. 2012. PMID: 22481129 http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201219a.html

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A. 2012; 158A(2):298-308. PMID: 22147502

Lakdawala NK, Funke BH, Baxter S, Cirino A, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY.  Genetic Testing for Dilated Cardiomyopathy in Clinical Practice. J Card Fail 2012, In press.

Neri PM, Pollard SE, Volk LA, Newmark L, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Usability of a Novel Clinician Interface for Genetic Results. J Biomed Informatics. 2012. In press.

2011

Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Hernandez AL, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman TC, Rehm HL. The GeneInsight Suite: A platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat. 2011; 32(5):532-36. PMID: 21432942

Brown KK and Rehm HL. Clinical Molecular Genetics: Molecular diagnostics for hearing loss. In: Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR, editors. Current Protocols in Human Genetics. Hoboken: John Wiley and Sons, Inc; 2011. PMID: 22241658

Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD. Temporal bone abnormalities in children with GJB2 mutations. Laryngoscope. 2011; 121(3):630-5. PMID: 21298644  

Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations. Invest Ophthalmol Vis Sci. 2011; 52(11):7924-36. PMID: 21873662

Jordan DM, Kiezun A, Baxter S, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev S. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet 2011, 88:183-92. PMID: 21310275

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011; 48(11):767-75. PMID: 21940737

Teekakirikul P, Cox SW, Funke B, Rehm HL. Targeted Sequencing using Affymetrix CustomSeq Arrays. Current Protocols in Human Genetics. Hoboken: John Wiley and Sons, Inc; 2011. PMID: 21480183

Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, DiSalvo TD, Hong CC. Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. Cardiogenetics 2011, 1:e10

2010

Caleshu C, Day S, Rehm HL, Baxter S. Use and interpretation of genetic tests in cardiovascular genetics. Heart. 2010; 96(20):1669-75. PMID: 20937756

Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. J Mol Diagn. 2010; 12(6) 818-27. PMID: 20864638

Kothiyal P, Cox SW, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow B, Rehm HL. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010; 10(10). PMID: 20146813

Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010 Jan 26; 55 (4):320-9. PMID: 20117437

Rehm HL. Translating research discoveries into clinical tests. Semin Nephrol. 2010; 30:426-430. PMID: 20807615Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, HoCY, Hurst S , Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy. Circ Res. 2010; 106(9):1549-52. PMID: 20378854

Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. LAMP2 in patients with Danon disease. Circ Cardiovasc Genet 2010, Vol 3: 129-137. PMID: 20173215

Zimmerman RS, Cox S, Lakdawala N, Cirino A, Mancini-DiNardo D, Clark E, Meredith A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho, CY, Rehm HL and Funke BH. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010; 12(5):268-78. PMID: 20474083

 

2009

Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 2009; 6(7):507-510. PMID: 19543287

Jacobson SG, Aleman T, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci. 2009; 50(4):1886-1894. PMID: 19074810

Maron BJ, Lesser JR, Schiller NB, Harris KM, Brown C, Rehm HL. Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation. JAMA. 2009; 302(15):1681-1684. PMID: 19843903

 

2008

Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin J, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008; 358(18):1899-1908. PMID: 18403758

 

2007

Kenna MA, Rehm HL, Robson C, Frangulov A, McCallum J, Yaeger D, Krantz ID. Additional Clinical Manifestations in Children with Sensorineural Hearing Loss and Biallelic GJB2 Mutations: Who Should Be Offered GJB2 Testing? Am J Med Genet. 2007; 143A(14):1560-66. PMID: 17455295

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng L, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB,Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu B-L, Zariwala MA, Schrijver I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet in Med. 2007; 9(7):413-26. PMID: 17666888

 

2005

Roberts A, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman J, and Kucherlapati R. The PTPN11 gene is not implicated in nonsyndromic familial hypertrophic cardiomyopathy. Amer J Med Genet 2005; 132:333-4. PMID: 15578621

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005; 77(6):945-57. PMID: 16380907

 

Book Chapters

Joshi VA, Mancini-DiNardo D, and Funke BH. Selection of a platform for mutation detection. Current Protocols in Human Genetics. Hoboken: John Wiley and Sons, Inc; 2008. PMID: 18428425.

Kothiyal P, Cox SW, Ebert J, Aronow B, Greinwald JH, Rehm HL. Custom array sequencing: An overview. In: Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR, editors. Current Protocols in Human Genetics. Hoboken: John Wiley and Sons, Inc; 2009.PMID: 19360699.

Rehm HL. Clinical Molecular Genetics: Molecular diagnostics for hearing loss. In: Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR, editors. Current Protocols in Human Genetics. Hoboken: John Wiley and Sons, Inc; 2005.

 

Interviews & News Media Apperances