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Recent Publications

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. PMID: 22791401.

Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM. Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. J Genet Couns. 2012 Oct;21(5):713-25. PMID: 22367485.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet Med. 2012 Nov;14(11):928-36. PMID: 22766611.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson C, Strand EA, Jakielski KJ, and Shriberg, LD. Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Eur J Hum Genet. 2012 Aug 22. PMID: 22909774.

Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159B(5):589-97. PMID: 22619118.

Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec;158A(12):3087-100. PMID: 23165726.

Stanbery L, Petty EM. Steps solidifying a role for SEPT9 in breast cancer suggest that greater strides are needed. Breast Cancer Res. 2012 Jan 9;14(1):101. PMID: 22236777.

Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB Jr, Hagerman RJ. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012 Dec  21;4(12):100. [Epub ahead of print] PMID: 23259642.

van Calcar SC, Ney DM. Food products made with glycomacropeptide, a low-phenyalanine whey protein, provides a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria (Review).  J Acad Nutr Diet 2012; 112:1201-1210. PMID: 22818728.


Last updated: 03/12/2014
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