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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

Rosenfeld JA, Fox JE, Descartes M, Brewer F, Stroud T, Gorski JL, Upton SJ, Moeschler JB, Monteleone B, Neill NJ, Lamb AN, Ballif BC, Shaffer LG, Ravnan JB.

Am J Med Genet A. 2015 Feb;167A(2):345-53.


Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE.

Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19.


Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

Midro AT, Panasiuk B, Stasiewicz-Jarocka B, Olszewska M, Wiland E, Myśliwiec M, Kurpisz M, Shaffer LG, Gajecka M.

J Hum Genet. 2014 Dec;59(12):667-74. doi: 10.1038/jhg.2014.92. Epub 2014 Oct 16.


Molecular convergence of neurodevelopmental disorders.

Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, Vaillancourt K, Lopez JP, Crapper L, Poujol R, Shaffer LG, Bourque G, Ernst C.

Am J Hum Genet. 2014 Nov 6;95(5):490-508. doi: 10.1016/j.ajhg.2014.09.013. Epub 2014 Oct 9.


Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.

Jarmuz-Szymczak M, Janiszewska J, Szyfter K, Shaffer LG.

Chromosome Res. 2014 Dec;22(4):517-32. doi: 10.1007/s10577-014-9439-3. Epub 2014 Sep 2.


Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Cunha Pda S, Pena HB, D'Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SD.

Dis Markers. 2014;2014:836082. doi: 10.1155/2014/836082. Epub 2014 Apr 15.


6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR.

Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.


Large inverted duplications in the human genome form via a fold-back mechanism.

Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK.

PLoS Genet. 2014 Jan 30;10(1):e1004139. doi: 10.1371/journal.pgen.1004139. eCollection 2014 Jan.


In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Bianchi DW, Van Mieghem T, Shaffer LG, Faas BH, Chitty LS, Ghidini A, Deprest J.

Prenat Diagn. 2014 Jan;34(1):1-5. doi: 10.1002/pd.4288. No abstract available.


Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW.

Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20. No abstract available.


Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF.

Acta Neuropathol Commun. 2013 Aug 2;1:45. doi: 10.1186/2051-5960-1-45.


Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.

Am J Med Genet A. 2014 Jan;164A(1):62-9. doi: 10.1002/ajmg.a.36201. Epub 2013 Nov 15.


Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.


The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA.

Prenat Diagn. 2013 Dec;33(12):1119-23. doi: 10.1002/pd.4209. Epub 2013 Sep 8. Review.


Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group, Rudd MK.

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26.


Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE.

Forensic Sci Int Genet. 2013 Sep;7(5):475-81. doi: 10.1016/j.fsigen.2013.05.008. Epub 2013 Jun 28.


Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.

Shaffer LG, Rosenfeld JA.

Expert Rev Mol Diagn. 2013 Jul;13(6):601-11. doi: 10.1586/14737159.2013.811912. Review.


Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA.

Hum Mutat. 2013 Oct;34(10):1415-23. doi: 10.1002/humu.22384. Epub 2013 Aug 13.


The 2012 Malcolm Ferguson-Smith Young Investigator Award.

Bianchi DW, Chitty LS, Deprest J, Ghidini A, Shaffer LG, Cousens RK.

Prenat Diagn. 2013 Jul;33(7):619-20. doi: 10.1002/pd.4169. No abstract available.


Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

Simons A, Shaffer LG, Hastings RJ.

Cytogenet Genome Res. 2013;141(1):1-6. doi: 10.1159/000353118. Review.

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