Publications with PreventionGenetics Authors


Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA (2015). "Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children." Journal of Inherited Mebolic Disorder. 38(3): 489-93.

Morissette R.*, Chen W.*, Perritt A.F., Dreiling J.L., Arai A.E., Sachdev V., Hannoush H., Mallappa A., Xu Z., McDonnell N.B., Quezado M., Merke D.P. (2015). "Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia." Journal of Clinical Endocrinology & Metabolism. 100(8):E1143-52. [*Co-first Authors]


Hughes SS, Welsh HI, Safina NP, Bejaoui K, Ardinger HH. (2014). "Family history and clefting as major criteria for CHARGE syndrome." 164A(1):48-53.

Khan A, Curtis C, Sarnat HB, Pinto-Rojas A, Bejaoui K, Wei XC, Casey R. (2014). "Niemann Pick C: first case in a Canadian Nakoda Nation child." Can J Neurol Sci. 41(4):518-21.

Reddi HV*, Jenkins S, Theis J, Thomas BC, Connors LH, Van Rhee F and Highsmith WE* . 2014. Homozygosity for the V122I mutation in Transthyretin is associated with earlier onset of cardiac amyloidosis in the African American Population, in the 7 th decade of life. J Mol. Diag. 16:68-74 [*Co-corresponding Authors]

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr. 2014. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscul Disord. 2014 Jan 11, pii: S0960-8966


Bharucha-Goebel D.X., Santi M., Medne L., Zukosky K., Dastgir J., Shieh P.B., Winder T.L.,Tennekoon G., Finkel R.S., Dowling J.J., Monnier N., Bönnemann C.G. (2013). "Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum." Neurology. 80(17):1584-1589.

Borovik, L., P. Modaff, Waterham, H. R., Krentz, A. D.,Pauli, R. M. (2013). "Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR." Am J Med Genet A 161(8): 2066-73.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder T.L., Weiss RB, Bönnemann CG (2013), "Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL5A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies." Hum Mutat.; 34(11):1558-67.

Davidson A., Siddiqui F., Lopez, M., Lunt P., Carlson H., Moore B., Love S., Born D. , Roper H., Majumdar A., Jayadev S., Underhill H., Smith C., von der Hagen M., Hubner A., Jardine P., Merrison A., Curtis E., Cullup T., Jungbluth H., Cos M., Winder T., Salam H., Li J., Moore S.,Dowling J. (2013). "Novel deletion of lysine 7 expands the clinical histopathological and genetic spectrum of TPM2-related myopathies." Brain 136(Pt2): 508-521.

Langfelder-Schwind E, Karczeski B, Strecker MN, Redmond J, Sugarman E, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R; Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors; J Genet Couns. 2013)Sep 7. doi: 10.1007/s10897-013-9636-9. [Epub ahead of print] PMID: 24014130.

Liewluck T, Winder T.L, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR 3rd, Milone M.; ANO5-muscular dystrophy: clinical, pathological and molecular findings.; Eur J Neurol. 2013 May 12. doi: 10.1111/ene.12191. [Epub ahead of print] PMID: 19917824

Liu Y-C*, Reddi HV*, Waheed S, Alapat D, Highsmith WE, Edmonson RD, Barlogie B, and Van Rhee F. 2014. A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis. Amyloid [In Press] [*Co-first Authors].

Lorenzo Maggi, R. Brugnoni, V. Scaioli, T. L. Winden, L. Morandi, A. G. Engel, R. Mantegazza, P. Bernasconi, 2013, Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK, J Neurol 260: 2894-2896

Reddi HV. 2013. Mutations in the EGFR pathway: Clinical utility and testing strategies. Clinical Laboratory News: 39(10): 14-16.

Sarangi, S. N.;Golightly, M.; Weber, J.; Chan, E. L. (2013). "A family with bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation." Platelets. 24(1):81-84.

Vladimir K, Marshall JD, Collin GB, Nykamp K., Kuburovic N., Milenkovic T., Rakic S.,Vukomanovic V., Djuric M., Jecmenica J., Milenkovic S., Naggert J.K. (2013). "Differences in the Clinical Spectrum of Two Adolescent Male Patients with Alström syndrome." Clinical Dysmorphology 22(1):7-12.

Weisfeld-Adams J.D., Mehta L., Rucker J.C., Dembitzer F.R., Szporn A., Lublin F.D., Introne W.J., Bhambhani V., Chicka M.C., Cho C. (2013). "Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion with neurodegenerative disease." Orphanet Journal of Rare Diseases. 8(46): 1-7.


Milone, M.; Liewluck, T.; Winder, T. L.; Pianosi, P. T. (2012). "Amyloidosis and exercise intolerance in ANO5 muscular dystrophy." Neuromuscul Disord 22(1): 13-5.

Thomas, M., Enciso, V. Stratton, R.; Shah, S.; Winder, T.; Tayeh, M.; Roeder, E. (2012). "Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome." Am J Med Genet A 158A(10): 2534-6.

Solomon, B. D., Bear K. A.; Wyllie, A.; Keaton, A. A.; Dubourg, C.; David, V.; Mercier, S.; Odent, S.; Hehr, U.; Paulussen, A.; Clegg, N. J.; Delgado, M. R.; Bale, S. J.; Lacbawan, F.; Ardinger, H. H.; Aylsworth, A. S.; Bhengu, N. L.; Braddock, S.; Brookhyser, K.; Burton, B.; Gaspar, H.; Grix, A.; Horovitz, D.; Kanetzke, E.; Kayserili, H.; Lev, D.; Nikkel, S. M.; Norton, M.; Roberts, R.; Saal, H.; Schaefer, G. B.; Schneider, A.; Smith, E. K.; Sowry, E.; Spence, M. ; Shalev, S. A.; Steiner, C. E.; Thompson, E. M.; Winder, T. L.; Balog, J. Z.; Hadley, D. W.; Zhou, N.; Pineda-Alvarez, D. E.; Roessler, E.; Muenke, M. (2012). Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog." J Med Genet 49(7): 473-9.

Willer, T., Lee, H.; Lommel, M.; Yoshida-Moriguchi, T.; de Bernabe, D. B.; Venzke, D.; Cirak, S.; Schachter, H.; Vajsar, J.; Voit, T.; Muntoni, F.; Loder, A. S.; Dobyns, W. B.; Winder, T. L.; Strahl, S.; Mathews, K. D.; Nelson, S. F.; Moore, S. A.; Campbell, K. P. (2012). "ISPD loss-of function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome." Nat Genet 44(5): 575-80.

Yonath, H., Reznik-Wolf, H.; Berkenstadt, M.; Eisenberg-Barzilai, S.; Lehtokari, V. L.; Wallgren-Pettersson, C.; Mehta, L.; Achiron, R.; Gilboa, Y.; Polak-Charcon, S.; Winder, T.; Frydman, M.; Pras, E. (2012). "Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy." Prenat Diagn 32(1): 70-4.


Foley, A. R.; Hu, Y.; Zou, Y.; Yang, M.; Medne, L.; Leach, M.; Conlin, L. K.; Spinner, N.; Shaikh, T. H.; Falk, M.; Neumeyer, A. M.; Bliss, L.; Tseng, B. S.; Winder, T. L. (2011). "Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy." Ann Neurol 69(1): 206-11.

Gallione, C. J.; A. Solatycki; Awad, I. A.; Weber, J. L.; Marchuk, D. A. (2011). "A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations." Genet Med 13(7): 662-6.

Mathews, K. D.; Stephan, C.M.; Laubenthal, K.; Winder, T. L.; Michele, D. E.; Moore, S. A.; Campbell, K. P. (2011). "Myoglobinuria and muscle pain are common in patients with limbgirdle muscular dystrophy 2I." Neurology 76(2): 194-5.

Wannasilp, N., Solomon, B. D.; Warren-Mora, N.; Clegg, N. J.; Delgado, M. R.; Lacbawan, F.; Hu, P.; Winder, T. L.; Roessler, E.; Muenke, M. (2011). "Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2." Am J Med Genet A 155A(4): 860-4.

Wu, Y., Weber, J. L.; Vladutiu, G. D.; Tarnopolsky, M. A. (2011). "Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern." Mol Genet Metab 104(4): 587-91.


Youn, G. J., Uzunyan, M.; Vachon, L.; Johnson, J.; Winder, T. L.; Yano, S. (2010). "Autosomal recessive LMNA mutation causing restrictive dermopathy." Clin Genet 78(2): 199-200.


Chang, W.; Winder, T. L.; LeDuc, C. A.;Simpson; L. L.,Millar; W. S.; Dungan; J.; Ginsberg; N. Plaga, S.; Moore, S. A.; Chung, W. K. (2009). "Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families." Prenat Diagn 29(6): 560-9.

Laing, N. G.; D. E. Dye; Wallgren-Pettersson, C.; Richard, G.; Monnier, N.; Lillis, S.; Winder, T. L.; Lochmuller, H.; Graziano, C.; Mitrani-Rosenbaum, S.; Twomey, D.; Sparrow, J. C.; Beggs, A. H.; Nowak, K. J.; (2009). "Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)." Hum Mutat 30(9): 1267-77.

Margeta, M.; Connolly, A. M.; Winder, T. L.; Pestronk, A.; Moore, S. A. (2009). "Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I." Muscle Nerve 40(5): 883-9.

Puckett, R. L.; Moore, S. A. Winder, T. L.; Willer, T.; Romansky, S. G.; Covault, K. K.; Campbell, K. P. Abdenur, J. E. (2009). "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation." Neuromuscul Disord 19(5): 352-6.

Tishkoff, S.A , Reed, F.A., Friedlaender, F.R., Froment, A., Ehret, C., Dobrin, S., Doumbo, O., Hirbo, J.B., Ibrahim, M., Juma, A.T., Kotze, M.J., Lema, G., Moore, J.H., Nyambo, T.B., Omar, S.A., Pretorius, G.S., Ranciaro, A., Smith, M.W., Thera, M., Wambebe, C., Weber, J.L., Williams, S.M. (2009). "The Genetic Structure and History of Africans and African Americans." Science 324:1035-1044.


Friedlaender, J.S., Friedlaender, F.R., Reed, F.R., Kidd, K.K., Kidd, J.R., Chambers, G., Lea, R., Loo, J.-H., Koki, G., Hodgson, J.A., Merriwether, D.A., Weber, J.L. (2008). "The Genetic Structure of Pacific Islanders." PLOS Genetics 4:e19.

Payseur, B.A., Place, M., Weber, J.L. (2008). Linkage disequilibrium between STRPs and SNPs across the human genome. Am. J. Hum. Genet. 82:1039-1050.