Publications with PreventionGenetics Authors


Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease. Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H, Morel CF, Machado J, Kim RH. Eur J Med Genet. 2018 Jul 10. pii: S1769-7212(17)30880-7. doi: 10.1016/j.ejmg.2018.07.006. [Epub ahead of print] PMID: 30006056

Eno C, Bayrak-Toydemir P, Bean L,, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0265-4.

Suleiman J, Mundt M, Sampath S, El-Hattab AW. TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. Clin Genet. 2018 Apr 6. doi: 10.1111/cge.13258. PMID: 29633245.


Wood KA, Zambrano RM, Cheek BJ, Arcement C, Haymon M, Steinkampf J, Sampath S, Hyland JC, Lacassie Y. Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. Clin Case Rep. 2017 Feb 24;5(4):431-434. doi: 10.1002/ccr3.835. eCollection 2017 Apr PMID: 28396763

Hannah-Shmouni F, Morissette R, Sinaii N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP. Revisiting the Prevalence of Nonclassic Congenital Adrenal Hyperplasia in U.S. Ashkenazi Jews and Caucasians. Genet Med. 2017; 19(11):1276-79.

Hannah-Shmouni F, Chen W, Merke DP. Genetics of Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am. 2017; 46(2):435-58.

Muna A. Al Dhaibai, Diane Allingham-Hawkins and Ayman W. El-Hattab. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report., BMC Medical Genetics (2017),

Robert W. Ricciotti, Aaron J. Baraff, George Jour, McKenna Kyriss, Yu Wu, Yuhua Liu, Shao-Chun Li, Benjamin Hoch, Yajuan J. Liu, High amplification levels of MDM2 and CDK4 correlate with poor outcome in patients with dedifferentiated liposarcoma: a cytogenomic microarray analysis of 47 cases., Cancer Genetics (2017),

Bagheri S, Pantrangi M, Sodhi SK, Bagheri S, Oellers P, Scholl HPN (2017). A novel large homozygous deletion in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Retin Cases Brief Rep. doi: 10.1097/ICB.000000000000628

Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal , Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV (2017). Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med. doi:10.1002/mgg3.300

Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ. (2017). 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. Am. J. Med. Genet. A. doi: 10.1002;ajmg.a.38254.

Wortmann SB, Wevers RA, Tiller GE, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Kyriss MN, Maranda B, Mills PB, Pitt J, Potente C, Reid ES, Rodenburg R, Kluijtmans LA, Sampath S, Thomas JA, Waters PJ, White SM, Pai EF. (2017). Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J. Inherit. Metab. Dis. 40(3):423-431.

Suleiman, J., Allingham-Hawkins, D., Hashem, M., Shamseddin, H., Alkuraya, F. S. and El-Hattab, A. W., WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome. Clin Genet. Accepted Author Manuscript. doi:10.1111/cge.13054

Butcher D.T., Cytrynbaum C., Turinsky A.L., Siu M.T., Inbar-Feigenberg M., Mendoza-Londono R., Chitayat D., Walker S., Machado J., Caluseriu O., Dupuis L., Grafodatskaya D., Reardon W., Gilbert-Dussardier B., Verloes A., Bilan F., Milunsky J.M., Basran R., Papsin B., Stockley T.L., Scherer SW, Choufani S., Brudno M., Weksberg R. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017; 100: 773-788.

McKiernan, F.E., Dong, J., Berg, R.L., Scotty, E., Mundt, P., Larson, L., Rai, I. Mutational and biochemical findings in adults with persistent hypophosphatasia. Osteoporosis Int. 2017; doi:10.1007/s00198-017-4035-y.

Londre G.K., Zaleski C.A., and Conta J.H. Adding value to genetic testing through utilization management: Commercial laboratory's experience. Am J Med Genet Part A. 2017;9999:1–3. doi:10.1002/ajmg.a.38147.


Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat. 2016; 37(9):893-7.


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]


Loupe J, Sampath S, Lacassie Y. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. Eur J Med Genet. 2014 Oct;57(10):562-6. doi: 10.1016/j.ejmg.2014.08.002. Epub 2014 Aug 10. PMID: 25118007.

Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug;22(8):969-78. doi: 10.1038/ejhg.2013.285. Epub 2014 Jan 8. PMID: 24398791.

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.