Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
Dan L Duncan Comprehensive Cancer Center
Center for Drug Discovery
Baylor College of Medicine
Graduate Program in Development, Disease Models & Therapeutics
- Baylor College of Medicine (Lab)
Elsea Lab, R731
One Baylor Plaza
Houston, TX 77030
Phone: (713) 798-5484
- Baylor Genetics (Clinic)
John P. McGovern Campus
Houston, TX 77021
- Office (Office)
One Baylor Plaza, R717
Houston, TX 77030
Phone: (713) 798-5484
- BS from Missouri State University
- 05/1990 - Springfield, Missouri United States
- Chemistry, Biology
- PhD from Vanderbilt University
- 05/1994 - Nashville, Tennessee United States
- Post-Doctoral Fellowship at Vanderbilt University
- 12/1994 - Nashville, Tennessee United States
- Postdoctoral Fellowship at Baylor College of Medicine
- 08/1998 - Houston, Texas United States
- Human molecular genetics
- Fellowship at Baylor College of Medicine
- 05/1998 - Houston, Texas United States
- Clinical Biochemical Genetics
- Clinical Biochemical Genetics
- American Board of Medical Genetics
- Molecular and biochemical basis of rare disease; genomic disorders; metabolomics; diagnostics; neurodevelopmental disorders; caregiver concerns
Professional StatementDespite many advances in the diagnosis of rare disease, the pathophysiological mechanisms underlying these disorders are poorly understood. Our research goals are targeted toward defining the biochemical mechanisms and molecular pathways impacted in human genetic disease. The genetic analysis of neurodevelopmental disorders complicated by obesity and circadian rhythm defects, including autism, intellectual disability, seizures, and behavioral phenotypes, is a primary focus. This includes the clinical and molecular analysis of genomic conditions, wherein deletion or duplication of a portion of the genome is the primary underlying etiology, leading to altered gene dosage. Disorders include Smith-Magenis syndrome, Potocki-Lupski syndrome, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, 2q37.3 deletion syndrome, Pitt-Hopkins syndrome, and others. Our goals are to improve diagnosis, enhance understanding of phenotypes and develop a working knowledge of the molecular relationships among neurodevelopmental disorders developing toward targeted therapeutics. To further support these studies, we have created and maintain a Smith-Magenis syndrome patient registry and have other patient registries in development.
In order to investigate the molecular and cellular basis of these rare, pleiotropic disorders, we have utilized a multidisciplinary approach including mouse, frog, zebrafish and human cellular models, including induced pluripotent stem cells and neural progenitor cells. Current studies are focused toward understanding the molecular and cellular relationships between and among a subgroup of neurodevelopmental disorders with overlapping phenotypes using expression profiling, metabolomics and other functional approaches. Genes and pathways include RAI1, MBD5, HDAC4, TCF4, FMR1 and DEAF1, among others, with associated syndromes exhibiting commonly altered pathways, including circadian rhythm, metabolic and developmental gene networks that may be targets for therapeutic intervention. For example, one of the hallmark features of Smith-Magenis syndrome is a circadian rhythm defect. Our work has shown that RAI1 directly regulates CLOCK, a master regulator of circadian rhythm, providing strong evidence for molecular and cellular etiology behind the sleep phenotype and identifying a pathway that can be therapeutically targeted.
New projects include investigation of the role of NAD kinase in both Alzheimer’s disease and pancreatic cancer and the role of this genetic and biochemical pathway in tumor growth toward developing personalized approaches to treatment. Utilizing cell culture model systems and conditional mouse models to improve understanding of the underlying etiology of these neurodegenerative and neoplastic mechanisms is a primary goal.
We have developed at Baylor Genetics a clinical metabolomics pipeline for diagnosis and management of inborn errors of metabolism. Clinical and research studies have focused toward the development and utilization of metabolomic profiling and analysis of metabolic pathways toward biomarker discovery in a variety of inherited and acquired disorders. We are developing personalized medicine approaches for treatment of neurodevelopmental, neurogenerative and metabolically-driven conditions utilizing genomic, metabolomic and transcriptomic approaches to improve diagnosis, management and quality of life for individuals impacted by these conditions. Metabolomic profiling of more than 4500 clinical and research samples has provided functional output to support curation of genomic variants that has improved diagnosis and management of individuals with a variety of metabolic conditions and contributed to biomarker discovery in metabolic disorders.
While most of our studies have a molecular basis, we also work to educate others about rare disease and to provide parents, caregivers and siblings of individuals with neurodevelopmental syndromes with the tools they need to maintain healthy families. Our data show that families are doing very well despite the high prevalence of anxiety and depression among both mothers and fathers and that while younger typically developing siblings may have some difficulties, adult siblings are doing very well, with many choosing careers in education or healthcare for individuals with developmental disabilities. Our studies highlight not only disease burden but also illustrate the power of early and accurate diagnosis, the breadth of needs for individuals with rare disease and the resiliency of families and caregivers.
- Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH "Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma." Mol Genet Metab. 2015 June ; 115 : 91-4. Pubmed PMID: 25956449
- Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH "MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes." Eur J Hum Genet. 2015 June ; 23 : 781-9. Pubmed PMID: 25271084
- Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH "Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism." J Inherit Metab Dis. 2015 April 15; 38 : 1029-39. Pubmed PMID: 25875217
- Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH "17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome." Clin Genet. 2007 July ; 72 (1): 47-58. Pubmed PMID: 17594399
- Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W "A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men." PLoS Genet. 2012 May ; 8 (5): e1002713. Pubmed PMID: 22654670
- Girirajan S, Truong HT, Blanchard CL, Elsea SH "A functional network module for Smith-Magenis syndrome." Clin Genet. 2009 April ; 75 (4): 364-74. Pubmed PMID: 19236431
- Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH "A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.." Genet Med.. 2018 20 : 1274-1283.
- Hsiung Y, Elsea SH, Osheroff N, Nitiss JL "A mutation in yeast TOP2 homologous to a quinolone-resistant mutation in bacteria. Mutation of the amino acid homologous to Ser83 of Escherichia coli gyrA alters sensitivity to eukaryotic topoisomerase inhibitors.." J. Biol. Chem.. 1995 September 1; 270 (35): 20359-64. Pubmed PMID: 7657608
- Elsea SH, Hsiung Y, Nitiss JL, Osheroff N "A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine.." J. Biol. Chem.. 1995 January 27; 270 (4): 1913-20. Pubmed PMID: 7829529
- Frühwald MC, O'Dorisio MS, Dai Z, Rush LJ, Krahe R, Smiraglia DJ, Pietsch T, Elsea SH, Plass C "Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs.." Genes Chromosomes Cancer. 2001 January ; 30 (1): 38-47. Pubmed PMID: 11107174
- Girirajan S, Elsea SH "Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice." Mamm Genome. 2009 April ; 20 (4): 247-55. Pubmed PMID: 19319603
- Linnik MD, Butler BT, Elsea SH, Ahmed NK "Analysis of neurogenic contractions induced by ML-1035 and other benzamides in the guinea-pig non-stimulated isolated ileum.." J. Pharm. Pharmacol.. 1994 June ; 46 (6): 491-6. Pubmed PMID: 7932045
- Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH "Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay." J Med Genet. 2010 April ; 47 (4): 223-9. Pubmed PMID: 19752160
- Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, et al "Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder." Am J Hum Genet. 2011 October 7; 89 (4): 551-63. Pubmed PMID: 21981781
- Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI "Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.." Cytogenet. Cell Genet.. 1999 84 (41276): 48-9. Pubmed PMID: 10343100
- Vlangos CN, Das P, Patel PI, Elsea SH "Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.." Cytogenet. Cell Genet.. 2000 88 (41337): 283-5. Pubmed PMID: 10828610
- Girirajan S, Elsea SH "Brachydactyly A1: new relatives for old families?." J. Genet.. 2005 August ; 84 (2): 95-8. Pubmed PMID: 16131709
- Shayota BJ, Elsea SH "Behavior and sleep disturbance in Smith-Magenis syndrome.." Curr Opin Psychiatry.. 2019 32 : 73-78.
- Foster RH, Kozachek S, Stern M, Elsea SH "Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome." J Genet Couns. 2010 April ; 19 (2): 187-98. Pubmed PMID: 20151318
- Mullegama SV, Elsea SH "Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).." Eur J Hum Genet.. 2016 24 : 1376.
- Sun D, Elsea SH, Patel PI, Funk CD "Cloning of a human epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13."." Cytogenet. Cell Genet.. 1998 81 (1): 79-82. Pubmed PMID: 9691181
- Elsea SH, Osheroff N, Nitiss JL "Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast.." J. Biol. Chem.. 1992 July 5; 267 (19): 13150-3. Pubmed PMID: 1320012
- Osheroff N, Corbett AH, Elsea SH, Westergaard M "Defining functional drug-interaction domains on topoisomerase II by exploiting mechanistic differences between drug classes.." Cancer Chemother. Pharmacol.. 1994 34 : S19-25. Pubmed PMID: 8070023
- Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI "Definition of the critical interval for Smith-Magenis syndrome.." Cytogenet. Cell Genet.. 1997 79 (41337): 276-81. Pubmed PMID: 9605871
- Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH "Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR." Genet Test. 2008 March ; 12 (1): 67-73. Pubmed PMID: 18373405
- Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH "Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene." Am J Med Genet A. 2005 January 30; 132 (3): 278-82. Pubmed PMID: 15690371
- Girirajan S, Elsea SH "Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice." Eur J Med Genet. 2009 52 (4): 224-8. Pubmed PMID: 19116176
- Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH "Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome." Am J Med Genet A. 2012 August ; 158 (8): 2015-20. Pubmed PMID: 22753018
- Elsea SH, McGuirk PR, Gootz TD, Moynihan M, Osheroff N "Drug features that contribute to the activity of quinolones against mammalian topoisomerase II and cultured cells: correlation between enhancement of enzyme-mediated DNA cleavage in vitro and cytotoxic potential.." Antimicrob. Agents Chemother.. 1993 October ; 37 (10): 2179-86. Pubmed PMID: 8257142
- Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA "Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay." Am J Med Genet A. 2008 March 1; 146 (5): 636-43. Pubmed PMID: 17334992
- Truong HT, Dudding T, Blanchard CL, Elsea SH "Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature." BMC Med Genet. 2010 11 : 142. Pubmed PMID: 20932317
- Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH "Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.." Hum Mutat.. 2017 38 : 1774-1785.
- Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH "Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases." Clin Genet. 2007 June ; 71 (6): 540-50. Pubmed PMID: 17539903
- Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI "Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.." Am. J. Med. Genet.. 1998 January 6; 75 (1): 104-8. Pubmed PMID: 9450867
- Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH "Genetic diagnosis of Down syndrome in an underserved community.." Am J Med Genet A.. 2018 176 : 483-486..
- Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH "Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis." Eur J Hum Genet. 2001 December ; 9 (12): 892-902. Pubmed PMID: 11840190
- Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH "Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum." Genet Med. 2006 July ; 8 (7): 417-27. Pubmed PMID: 16845274
- Le TN, Williams SR, Alaimo JT, Elsea SH "Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.." Am J Med Genet A. 2019 179 : 782-791.
- Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI "Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome." Am J Hum Genet. 1995 December ; 57 (6): 1342-50. Pubmed PMID: 8533763
- Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH "Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems." Am J Hum Genet. 2010 August 13; 87 (2): 219-28. Pubmed PMID: 20691407
- Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH "Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures." Eur J Hum Genet. 2010 April ; 18 (4): 436-41. Pubmed PMID: 19904302
- Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, Metherall JE "Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.." Am. J. Med. Genet.. 1999 December 3; 87 (4): 342-8. Pubmed PMID: 10588842
- Elsea SH, Leykam V "HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers.." Blood. 2000 April 1; 95 (7): 2453-5. Pubmed PMID: 10787240
- Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH "How much is too much? Phenotypic consequences of Rai1 overexpression in mice." Eur J Hum Genet. 2008 August ; 16 (8): 941-54. Pubmed PMID: 18285828
- Sun D, McDonnell M, Chen XS, Lakkis MM, Li H, Isaacs SN, Elsea SH, Patel PI, Funk CD "Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.." J. Biol. Chem.. 1998 December 11; 273 (50): 33540-7. Pubmed PMID: 9837935
- Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L "Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)." Genet Med. 2002 4 (3): 118-25. Pubmed PMID: 12180145
- Froelich-Ammon SJ, Burden DA, Patchan MW, Elsea SH, Thompson RB, Osheroff N "Increased drug affinity as the mechanistic basis for drug hypersensitivity of a mutant type II topoisomerase.." J. Biol. Chem.. 1995 November 24; 270 (47): 28018-21. Pubmed PMID: 7499285
- Kennedy AD, Wittmann BM, Evans AM, Miller LAD, Toal DR, Lonergan S, Elsea SH, Pappan KL "Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing.." J Mass Spectrom.. 2018 53 : 1143-1154.
- Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI "Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients." Am J Hum Genet. 1996 May ; 58 (5): 998-1007. Pubmed PMID: 8651284
- Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH "Mutations in RAI1 associated with Smith-Magenis syndrome." Nat Genet. 2003 April ; 33 (4): 466-8. Pubmed PMID: 12652298
- Gropman AL, Elsea S, Duncan WC, Smith AC "New developments in Smith-Magenis syndrome (del 17p11.2)." Curr Opin Neurol. 2007 April ; 20 (2): 125-34. Pubmed PMID: 17351481
- Cappuccio G, Donti TR, Hubert L, Sun Q, Elsea SH "Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.." J Inherit Metab Dis.. 2019 42 : 509-518.
- Fritz E, Elsea SH, Patel PI, Meyn MS "Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.." Proc. Natl. Acad. Sci. U.S.A.. 1997 April 29; 94 (9): 4538-42. Pubmed PMID: 9114025
- Smith AC, Magenis RE, Elsea SH "Overview of Smith-Magenis syndrome." J Assoc Genet Technol. 2005 31 (4): 163-7. Pubmed PMID: 16354942
- Kuo BS, Kusmik WF, Poole JC, Elsea SH, Chang J, Hwang KK "Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats.." Drug Metab. Dispos.. 20 (1): 23-30. Pubmed PMID: 1346992
- Barry E, Derhammer T, Elsea SH "Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.." Community Genet. 2005 8 (3): 173-9. Pubmed PMID: 16113534
- Elsea SH, Westergaard M, Burden DA, Lomenick JP, Osheroff N "Quinolones share a common interaction domain on topoisomerase II with other DNA cleavage-enhancing antineoplastic drugs.." Biochemistry. 1997 March 11; 36 (10): 2919-24. Pubmed PMID: 9062121
- Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH "Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome." Hum Mol Genet. 2010 October 15; 19 (20): 4026-42. Pubmed PMID: 20663924
- Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH "RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.." J Pediatr Genet.. 2017 6 : 155-164.
- Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR "RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome." Am J Med Genet A. 2006 November 15; 140 (22): 2454-63. Pubmed PMID: 17041942
- Girirajan S, Elsas LJ, Devriendt K, Elsea SH "RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions." J Med Genet. 2005 November ; 42 (11): 820-8. Pubmed PMID: 15788730
- Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, ..., Elsea SH "Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder." Eur J Hum Genet. 2014 January ; 22 (1): 57-63. Pubmed PMID: 23632792
- Vlangos CN, Yim DK, Elsea SH "Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?." Mol Genet Metab. 2003 June ; 79 (2): 134-41. Pubmed PMID: 12809645
- Pankowicz FP, Barzi M, Legras X, Hubert L, (...), Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD "Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia.." Nat Commun.. 2016 7 : 12642.
- Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R "Severe intellectual disability and autistic features associated with microduplication 2q23.1." Eur J Hum Genet. 2012 April ; 20 (4): 398-403. Pubmed PMID: 22085900
- Moshier MS, York TP, Silberg JL, Elsea SH "Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits." J Intellect Disabil Res. 2012 October ; 56 (10): 996-1007. Pubmed PMID: 22672270
- Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH "Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)." Am J Med Genet A. 2007 May 1; 143 (9): 999-1008. Pubmed PMID: 17431895
- Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH "Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity." Am J Hum Genet. 2012 June 8; 90 (6): 941-9. Pubmed PMID: 22578325
- Elsea SH, Williams SR "Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways." Expert Rev Mol Med. 2011 13 : e14. Pubmed PMID: 21545756
- Elsea SH, Girirajan S "Smith-Magenis syndrome." Eur J Hum Genet. 2008 April ; 16 (4): 412-21. Pubmed PMID: 18231123
- Elsea SH, Lucas RE "The mousetrap: what we can learn when the mouse model does not mimic the human disease.." ILAR J. 2002 43 (2): 66-79. Pubmed PMID: 11917158
- Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL, McCoy K, Elsea SH "Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response." Mamm Genome. 2008 April ; 19 (4): 246-62. Pubmed PMID: 18343975
- Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, et al "Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies." Am J Hum Genet. 2012 July 13; 91 (1): 56-72. Pubmed PMID: 22770980
- Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, (...), Milosavljevic A, Lee BH, Elsea SH "Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.." Genet Med.. 2019 21 : 1977-1986.
- Veatch OJ, Pendergast JS, Allen MJ, Leu RM, Johnson CH, Elsea SH, Malow BA "Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay." J Autism Dev Disord. 2014 July 25; : Pubmed PMID: 25059483
- Tahir R, Kennedy A, Elsea SH, Dickinson AJ "Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus." Mech Dev. 2014 August ; 133 : 91-104. Pubmed PMID: 24878353
- Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH "Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.." JAMA Netw Open.. 2021 4 : e2114155.
- Li X, Milosavljevic A, Elsea SH, Wang CC, Scaglia F, Syngelaki A, Nicolaides KH, Poon LC "Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation.." Hypertension. 2021 : Pubmed PMID: 34225470
- Gandhi A, Zhou D, Alaimo J, Chon E, Fountain MD, Elsea SH "Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD." J Autism Dev Disord.. 2021 51 : 1852-1865.
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