Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. 2015. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated wth founder mutation in the SGCG gene in Puerto Rican Hispanics. MOLECULAR GENETICS AND GENOMICS MEDICINE. Vol. 3, no. 2. (March): 92-98.
Burnside MN, Pyatt RE, Hughes A, Baker PB, Pierson CR. 2015. Complex brain malformations associated with 6q27 gain that includes THBS2, which encodes Thrombospondin 2, an astrocyte-derived protein of the extracellular matrix. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY. Vol. 18, no. 1. (January): 59-65.
Bowling B, Zimmer E, Pyatt RE. 2014. Bringing next-generation sequencing into the classroom through a comparison of molecular biology techniques. AMERICAN BIOLOGY TEACHER. Vol. 76, no. 6. (August): 396-401.
Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C. 2014. Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. EUROPEAN JOURNAL OF MEDICAL GENETICS. Vol. 57, no. 7. (July): 315-318.
Polan MB, Pastore MT, Steingass K, Hashimoto S, Thrush DL, Pyatt R, Reshmi S, Gastier-Foster JM, Astbury C, McBride KL. 2014. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA(A) receptor subunit gene cluster. EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22, no. 1. (January): 105-109.
Mullegama SV, Rosenfeld JA, Orellana C, van Bon BWM, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BBA, Mendoza-Londono R, Elsea SH. 2014. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22, no. 1. (January): 57-63.
Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J. 2013. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion. EUROPEAN JOURNAL OF MEDICAL GENETICS. Vol. 56, no. 9. (September): 521-525.
Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW. 2013. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 161, no. 9. (September): 2294-2299.
Repnikova,Elena,A; Rosenfeld,Jill,A; Bailes,Andrea; Weber,Cecilia; Erdman,Linda; McKinney,Aimee; Ramsey,Sarah; Hashimoto,Sayaka; Lamb Thrush,Devon; Astbury,Caroline; Reshmi,Shalini,C; Shaffer,Lisa,G; Gastier-Foster,Julie,M; Pyatt,Robert,E. 2013. Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization. Forensic science international. Genetics. Vol. 7, no. 5. (September): 475-481.
Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Thrush DL, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE. 2013. Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization. FORENSIC SCIENCE INTERNATIONAL-GENETICS. Vol. 7, no. 5. (September): 475-481.
Rosales XQ, Malik V, Sneh A, Chen L, Lewis S, Kota J, Gastier-Foster JM, Astbury C, Pyatt R, Reshmi S, Rodino-Klapac LR, Clark KR, Mendell JR, Sahenk Z. 2013. Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation. MUSCLE & NERVE. Vol. 47, no. 5. (May): 731-739.
Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA. 2013. Integrated genomic characterization of endometrial carcinoma. NATURE. Vol. 497, no. May: 67-73.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RML, Shen YP, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, Van Rossem E, Vanakker ,O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. 2013. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 92, no. 2. (February): 210-220.
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. 2012. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 11. (November): 2925-2930.
La Madrid AM, Volchenboum S, Gastier-Foster JM, Pyatt R, Liu D, Pytel P, Lavarino C, Rodriguez E, Cohn SL. 2012. Locoregional MYCN-amplified neuroblastoma. PEDIATRIC BLOOD & CANCER. Vol. 59, no. 4. (October): 736-738.
Cancer Genome Atlas Network. 2012. Comprehensive molecular portraits of human breast tumours. NATURE. Vol. 490, no. 7418. (October): 61-70.
Cancer Genome Atlas Network. 2012. Comprehensive molecular portraits of human breast tumours. Nature. Vol. 490, no. 7418. (October): 61-70.
Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. 2012. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 8. (August): 1924-1933.
Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. 2012. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. CLINICAL GENETICS. Vol. 81, no. 6. (June): 578-583.
Pyatt RE, Astbury C. 2011. Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization. CLINICS IN LABORATORY MEDICINE. Vol. 31, no. 4. (December): e565.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon WM, Shen YP, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. 2011. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 89, no. 4. (October): 551-563.
Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L. 2011. Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel. JOURNAL OF MOLECULAR DIAGNOSTICS. Vol. 13, no. 2. (March): 167-174.
Cottrell C, Mendell J, Hart-Kothari M, Ell D, Thrush D, Astbury C, Pastore M, Gastier-Foster J, Pyatt RE. 2011. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clin Genet (Epub ahead of print).
Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R. Newmeyer A, Gastier-Foster JM. 2010. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 152A, no. 9. (September): 2301-2307.
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S. 2010. Newborn and carrier screening for spinal muscular atrophy. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 152A, no. 7. (July): 1608-1616.
Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Lamb Thrush D, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. 2010. Novel diagnostic features of Dysferlinopathies. MUSCLE & NERVE. Vol. 42, no. 1. (July): 14-21.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. 2010. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 86, no. 3. (March): 454-461.
Pyatt RE, Rosser T, Powell K. 2009. Undergraduates as science museum docents training students to be the teachers using peer led team learning. AMERICAN BIOLOGY TEACHER. Vol. 71, no. 1. (January): 16-19.
Pyatt RE, Mihal DC, Prior TW. 2007. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. CLINICAL CHEMISTRY. Vol. 53, no. 11. (November): 1879-1885.
Pyatt RE, Prior TW. 2006. A feasibility study for the newborn screening of spinal musular atrophy. GENETICS IN MEDICINE. Vol. 8, no. 7. (July): 428-437.
Pyatt RE, Pilarski R, Prior TW. 2006. Mutation screening in juvenile polyposis syndrome. JOURNAL OF MOLECULAR DIAGNOSTICS. Vol. 8, no. 1. (February): 84-88.
Holtzclaw JD, Morris L, Pyatt RE, Giver C, Hoey J, Gunn R, Eaton D, Haynes JK, and Eisen A. 2005. FIRST: A new model for developing future science faculty. J COLL SCI TEACH. Vol. 34, no. January: 24-29.
Pyatt RE. 2005. Haploid Analysis (Monosomal Hybrid Technique). In Encyclopedia of Diagnostic Genomics and Proteomics. New York: Marcel Dekker.
Kerstann KF, Feingold E, Freeman SB, Bean LJ, Pyatt R, Meltzer M, Heffner A, Capone G, and Sherman SL. 2004. Linkage disequilibrium mapping in trisomic populations, analytical approaches and an application to congenital heart defects in Down Syndrome. GENETIC EPIDEMIOLOGY. Vol. 27, no. 3. (November): 240-251.
Pyatt RE, Nakagawa H, Hampel H, Sedra M, Fuchik MB, Comeras I, de la Chapelle A, Prior TW. 2003. Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2. CLINICAL GENETICS. Vol. 63, no. 3. (March): 215-218.
Chadwick RB, Pyatt RE, Niemann TH, Richards SK, Johnson CK, Stevens MW, Meek JE, Hampel H, Prior TW, de la Chapelle A. 2001. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. JOURNAL OF MEDICAL GENETICS. Vol. 38, no. 7. (July): 461-466.
Adebamowo CA, Adeyi O, Pyatt R, Prior TW, Chadwick RW, and de la Chapelle A. 2000. Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria. AFRICAN JOURNAL OF MEDICINE AND MEDICAL SCIENCES. Vol. 29, no. 1. (March): 71-73.
Pyatt R, Chadwick RB, Johnson CK, Adebamowo C, de la Chapelle A, Prior TW. 1999. Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin - Implications for microsatellite instability testing. AMERICAN JOURNAL OF PATHOLOGY. Vol. 155, no. 2. (August): 349-353.
Pyatt RE, Jenski LL, Allen R, Cornetta K, Abonour R, Traycoff CM, Srour EF. 1999. Use of merocyanine 540 for the isolation of quiescent, primitive human bone marrow hematopoietic progenitor cells. JOURNAL OF HEMATOTHERAPY. Vol. 8, no. 2. (April): 189-198.
Gothot A, Pyatt R, McMahel J, Rice S, Srour EF. 1998. Assessment of proliferative and colony-forming capacity after successive in vitro divisions of single human CD34(+) cells initially isolated in G(0). EXPERIMENTAL HEMATOLOGY. Vol. 26, no. 7. (July): 562-570.
Gothot A, Pyatt R, McMahel J, Rice S, Srour EF. 1997. Functional heterogeneity of human CD34(+) cells isolated in subcompartments of the G(0)/G(1) phase of the cell cycle. BLOOD. Vol. 90, no. 11. (December): 4384-4393.
Ladd AC, Pyatt R, Gothot A, Rice S, McMahel J, Traycoff CM, Srour EF. 1997. Orderly process of sequential cytokine stimulation is required for activation and maximal proliferation of primitive human bone marrow CD34(+) hematopoietic progenitor cells residing in G(0). BLOOD. Vol. 90, no. 2. (July): 658-668.