Publications with PreventionGenetics Authors


Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Am J Hum Genet. 2019 March 28. DOI:10.1016/j.ajhg.2019.03.008

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome Bend EG†, Aref-Eshghi E†, Everman DB, Rogers RG, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B Clinical Epigenetics 2019 April 27. DOI:10.1186/s13148-019-0658-5 †Contributed equally

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series. Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li. (2019) Molecular Cytogenetics 12:12 doi:10.1186/s13039-019-0424-6

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation. Bend EG, Louie RJ, Stevenson RE. (2019) Clinical Dysmorphology doi: 10.1097/MCD.0000000000000260. [Epub ahead of print]

Bardet–Biedl syndrome: A model for translational research in rare diseases. Haws RM, Krentz AD, Stankowski RV, Steiner RD. (2015) European Journal of Molecular & Clinical Medicine 2, 102-9.

Thoraco-abdominal abnormalities in Bardet-Biedl syndrome: situs inversus and heterotaxy. Olson, AJ, Krentz AD, Finta FM, Okorie UC, Haws RB. (2018). Journal of Pediatrics. 204, 31-7.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. SPARK Consortium (2018). Neuron, 97:488-493.


Results after laparoscopic partial splenectomy for children with hereditary spherocytosis: Are outcomes influenced by genetic mutation? Pugi J1, Carcao M1, Drury LJ2, Langer JC3. J Pediatr Surg. 2018 May;53(5):973-975. doi: 10.1016/j.jpedsurg.2018.02.027. Epub 2018 Feb 8.

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-a2 variome and its related phenotypes. Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner 7, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes. Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz & Bekim Sadikovic. Nature Communications. 2018 Nov 20. doi: 10.1038/s41467-018-07193-y

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.


Genetic Testing for Disorders Causing Perturbations in Cobalamin, Homocysteine, Folate, Mathionine, and Propionate: Over a Decade of Experience in a Clinical Laboratory

Enhancing Splicing Variant Interpretation

Maintaining Sample Provenance: How Inclusion of Routine Genotyping Improves the Quality of Patient Results

Incidental Finding of Hematological Malignancy by Whole Exome Sequencing and Chromosomal Microarray

Syndromic Presentation in Individuals with SCN5A Pathogenic Variants

Who Is Opting-In: How Proband Age Impacts Requests for Secondary Findings

Laboratory Stewardship: Insurance Advocacy at its Best

Keeping an Eye on UM: Cost Reduction of Inherited Retinal Dystrophy Genetic Testing through the Incorporation of CNV Detection via Next Generation Sequencing

Secondary Findings on Whole Exome Sequencing: What do Patients Want to Know?

Sequencing Patients with Kabuki Syndrome

Clinical Utility of a Large Exome-Based Panel in the Genetic Diagnosis or Autism Spectrum Disorders and Intellectual Disabilities

Role of the TYR Haplotype [c.1205G>A; c.575C>A] in Trans with a Pathogenic TYR Variant in Patients with Oculocutaneous Albinism Type 1

A Complex Gene Rearrangement in the ABCB11 Gene Revealed by Multi-Platform Sequence Analysis in a Patient with Cholestasis

Pharmacogenetic Findings in Clinical Whole Exome Sequencing: a Recent Experience from a Clinical Diagnostic Laboratory

Clinical Utility of Whole Exome Sequencing for the Diagnosis of Rare Disease

PGxome®: Leveraging the Power of Many for Whole Exome Sequencing

Comparison of the Diagnostic Yield of Multi-Gene Panels for Neuromuscular Disorders

A Clinical Molecular Genetics Laboratory Experience with Whole Exome Sequencing

Pathogenic Variants and Variants of Uncertain Significance (VUS) in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Genes Are Commonly Found in Early-Onset PKD Patients: 2.5-Year Experience in a CAP/CLIA Diagnostic Laboratory

Patient Preferences for Secondary Findings on Whole Exome Sequencing

Difficult Discussions: DNA Banking