Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.
Ankala, A, et al. (2011) Genome Res; 22: 25-34.
A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield
Ankala, A, da Silva, C, Gualandi, F, Ferlini, A, Bean, L, Collins, C, Tanner, A, and Hegde, M. Annals of Neurology. (77)2:205-214.
An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities.
Kaminsky, E B, Kaul, V, Paschall, J, Church, D M, Bunke, B, Kunig, D, Moreno-De-Luca, D, Moreno-De-Luca, A, Mulle, J G, Warren, S T, Richard, G, Compton, J G, Fuller, A E, Gliem, T J, Huang, S, Collinson, M N, Beal, S J, Ackley, T, Pickering, D L, Golden, D M, Aston, E., Whitby, H, Shetty, S, Rossi, M R, Rudd, M K, South, S T, Brothman, A R, Sanger, W G, Iyer, R K, Crolla, J A, Thorland, E C, Aradhya, S, Ledbetter, D H, Martin, C L. 2011. Genetics in Medicine 13(9):777-784.
A novel microduplication in the neurodevelopmental gene SRGAP3 that segregates with psychotic illness in the family of a COS proband.
Wilson, N K, Lee, Y, Long, R, Hermetz, K E, Rudd, M K, Miller, R, Rapoport, J L, Addington, A M. 2011. Case Reports in Genetics.
A recurrent translocation is mediated by homologous recombination between HERV-H elements.
Hermetz, K E, Surti, U, Cody, J D, Rudd, M K. 2012. Molecular Cytogenetics 5:6. PMID:22260357.
Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations
Arunkanth Ankala, Parag M. Tamhankar, C. Alexander Valencia, Krishna K. Rayam, Manisha M. Kumar, and Madhuri R. Hegde. Human Mutation, Vol. 36, No. 1, 1-10, 2015.
Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel.
Valencia, C A, et al. (2013) PLoS ONE; 8(1): e53083.
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.
Mason-Suares, H, Kim, W, Grimmett, L, Williams, E S, Horner, V L, Kunig, D, Goldlust, I S, Wu, B, Shen, Y, Miller, D T, Martin, C L, Rudd, M K. 2013.: Genetics in Medicine.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Luo, Y, Hermetz, K E, Jackson, J M, Mulle, JG, Dodd, A, Tsuchiya, K D, Ballif, B C, Shaffer, L G, Cody, J D, Ledbetter, D H, Martin, C L, Rudd, M K. 2011. Human Molecular Genetics 20(19):3769-3778.
Enhanced detection of clinically relevant genomic imbalances using a targeted ply whole genome oligonucleotide mircoarray.
Baldwin, E L, Lee, J, Blake, D, Bunke, B, Alexander, C, Kogan, A, Ledbetter, D H, and Martin, C L. Genetics in Medicine 10:415-429, 2008.
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data
Lora J Bean, Stuart W Tinker, Cristina da Silva, Madhuri R Hegde. Human Mutat. 2013. (34)9:1183-1188.
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Lora J.H. Bean and Madhuri R. Hegde. Hum Mutat. 2016. 37:559-563.
Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis. A Report of the Association for Molecular Pathology
Linda M. Sabatini, Charles Mathews, Devon Ptak, Shivang Doshi, Katherine Tynan, Madhuri R. Hegde, Tara L. Burke, and Aaron D. Bossler. The Journal of Molecular Diagnostics, Vol. 18, No. 3, May 2016.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif, B C, Theisen, A, Rosenfeld, J A, Traylor, R, Gastier-Foster, J, Thrush, D L, Astbury, C, Bartholomew, D, McBride, K, Pyatt, R, Shane, K, Smith, W E, Banks, V, Gallentine, W B, Brock, P, Rudd, M K, Adam, M P, Keene, J A, Phillips, J A, Pfotenhauer, J P, Gowans, G C, Stankiewicz, P, Bejjani, B A, Shaffer, L G. 2010.: American Journal of Human Genetics 86: 454-61.
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.
Coffee, B, Keith, K, Albizua, I, Malone, T, Mowrey, J, Sherman, S L, Warren, S T. (2009). Am. J. Hum. Genet. 85: 503-514.
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Engelstad, H, Carney, G, S'aulis, D, Rise, J, Sanger, W G, Rudd, M K, Richard, G, Carr, C W, Abdul-Rahman, O A, Rizzo, W B. 2011. Molecular Genetics and Metabolism 104(3):356-61.
Microarray-based comprehensive mutation detection in the dystrophin gene.
Hegde M R, Chin E L H, Mulle J G, Okou D T, Warren S T, Zwick M E. Hum Mutat. 2008 Sep;29(9):1091-9.
Microdeletions of 3q29 confer high risk for schizophrenia.
Mulle, J G, Dodd, A F, McGrath, J A, Wolyniec, P S, Mitchell, A A, Shetty, A C, Sobreira, N L, Valle, D, Rudd M K, Satten, G, Cutler, D J, Pulver, A E, Warren, S T. 2010. American Journal of Human Genetics 87: 229-36.
Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
Richards C S, Bale S, Bellissimo D B, Das S, Grody W W, Hegde M R, Lyon E, Ward B E. Genet Med. 2008 Apr; 10(4):294-300.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze, U, et al. (2012) Hum Mol Genet; 22 (1):1-17.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Elizabeth J. Bhoj Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter Crino, and Hakon Hakonarson. 2016. The American Journal of Human Genetics. (98):782-788.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio
Hall, Patricia, Wittenauer, Angela, Hagar, Arthur. Molecular Genetics and Metabolism. Volume 113, Issue 4, December 2014, Pages 274-277.
Next-Generation Sequencing of Duplication CNVs Reveals That Most Are Tandem and Some Create Fusion Genes at Breakpoints
Newman, S, Hermetz, K, Weckselblatt, B, and Rudd, M K. (2015) The American Journal of Human Genetics. 96, 1-13.
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
Hall, Patricia, Marquardt, Gregg, McHugh, David M.S., Currier, Robert J, Tang, Hao, Stoway, Stephanie D., and Piero Rinaldo. 2014. Genetics in Medicine. 16 (12):889-895.
Reporting Incidental Findings in Genomic Scale Clinical Sequencing - A Clinical Laboratory Perspective
Hegde, M, Bale, S, Bayrak-Toydemir, P, Gibson, J, BoneJeng, LJ, Joseph, L, Laser, J, Lubin, I, Miller, C, Ross, L, Rothberg, P, Tanner, A, Vitazka, P, and Mao, R. The Journal of Molecular Diagnostics. 2015. 17(2):107-117.
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Rudd, M K, Keene, J, Bunke, B, Kaminsky, E B, Adam, M, Mulle, J G, Ledbetter, D H, Martin, C L. 2009. Human Molecular Genetics 18 (16): 2957-2962.
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.
Tayeh M K, Chin E L, Miller V R, Bean L J, Coffee B, Hegde M. (2009). Genet. Med. 11: 232-240.
Unbalanced Translocations Arise From Diverse Mutational Mechanisms Including Chromothripsis
Weckselblatt, B, Hermetz, K E, and Rudd, M. Katharine. 2015. Genome Research 25(6): 1-12.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Tsuchiya K D, Shaffer L G, Aradhya S, Gastier-Foster J M, Patel A, Rudd M K, Biggerstaff J S, Sanger, W G, Schwartz S, Tepperberg J H, Thorland E C, Torchia B A, Brothman A R. 2009. Genetics in Medicine 11: 866-873.
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing
Narravula A, Garber K B, Askree A H, Hegde M, Hall, P L. 2016. Genetics in Medicine.