InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Other Positions
    InstitutionBaylor College of Medicine
    DepartmentSchool of Health Professions
    DivisionSchool of Health Professions

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    F32HD008010     (ELSEA, SARAH H.)Feb 15, 1996
    Role: Principal Investigator

    R01HD038534     (ELSEA, SARAH H.)Aug 1, 2001 - Jun 30, 2007
    Molecular Analysis of del(17)(p11.2)
    Role: Principal Investigator

    R03HD065726     (ELSEA, SARAH H.)Sep 1, 2010 - Feb 29, 2012
    Establishing zebrafish as a model for rai1 gene dosage
    Role: Principal Investigator

    R01CA211176     (ELSEA, SARAH H.)Dec 5, 2016 - Nov 30, 2021
    Preclinical Analyses of NAD Kinase as a Redox Vulnerability for the Treatment of Pancreatic Cancer
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Martin K, McConnell A, Elsea SH. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1218-1222. PMID: 34882073.
      Citations:    Fields:    
    2. Thistlethwaite LR, Petrosyan V, Li X, Miller MJ, Elsea SH, Milosavljevic A. Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models. PLoS Comput Biol. 2021 Oct; 17(10):e1009551. PMID: 34695129.
      Citations:    Fields:    
    3. Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2021 Oct 04. PMID: 34605855.
      Citations: 1     Fields:    
    4. Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268. PMID: 34510712.
      Citations:    Fields:    
    5. Polymeropoulos CM, Brooks J, Czeisler EL, Fisher MA, Gibson MM, Kite K, Smieszek SP, Xiao C, Elsea SH, Birznieks G, Polymeropoulos MH. Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension. Genet Med. 2021 Dec; 23(12):2426-2432. PMID: 34316024.
      Citations:    Fields:    
    6. 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 11; 78(5):1398-1410. PMID: 34225470.
      Citations:    Fields:    Translation:Humans
    7. 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 07 01; 4(7):e2114155. PMID: 34251446.
      Citations: 1     Fields:    Translation:HumansPHPublic Health
    8. 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 Jun; 51(6):1852-1865. PMID: 32845423.
      Citations:    Fields:    Translation:Humans
    9. Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T. Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Sci Rep. 2021 05 28; 11(1):11295. PMID: 34050248.
      Citations:    Fields:    Translation:HumansCells
    10. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852. PMID: 33900143.
      Citations:    Fields:    
    11. Thistlethwaite LR, Petrosyan V, Li X, Miller MJ, Elsea SH, Milosavljevic A. CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models. PLoS Comput Biol. 2021 01; 17(1):e1008550. PMID: 33513132.
      Citations: 3     Fields:    Translation:HumansCells
    12. Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021 Jan 14; 2(1):100015. PMID: 33537682.
    13. Messa GM, Napolitano F, Elsea SH, di Bernardo D, Gao X. A Siamese neural network model for the prioritization of metabolic disorders by integrating real and simulated data. Bioinformatics. 2020 12 30; 36(Suppl_2):i787-i794. PMID: 33381827.
      Citations:    Fields:    Translation:Humans
    14. Grygiel A, Ikolo F, Stephen R, Bleasdille D, Robbins-Furman P, Nelson B, Sobering AK, Elsea SH. Sickle cell disease in Grenada: Quality of life and barriers to care. Mol Genet Genomic Med. 2021 01; 9(1):e1567. PMID: 33332776.
      Citations:    Fields:    Translation:Humans
    15. Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. Am J Med Genet C Semin Med Genet. 2020 12; 184(4):1030-1041. PMID: 33274544.
      Citations: 1     Fields:    Translation:Humans
    16. Veatch OJ, Butler MG, Elsea SH, Malow BA, Sutcliffe JS, Moore JH. An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int J Mol Sci. 2020 Nov 27; 21(23). PMID: 33261099.
      Citations:    Fields:    Translation:HumansAnimals
    17. Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787. PMID: 32909658.
      Citations: 1     Fields:    Translation:Humans
    18. Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. PMID: 32828637.
      Citations: 1     Fields:    Translation:HumansCells
    19. Ames EG, Neville KL, McNamara NA, Keegan CE, Elsea SH. Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays. Neurology. 2020 07 28; 95(4):184-187. PMID: 32669393.
      Citations: 2     Fields:    Translation:Humans
    20. Kaplan KA, Elsea SH, Potocki L. Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730. PMID: 32495322.
      Citations:    Fields:    Translation:HumansAnimals
    21. Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 09; 41(9):1469-1487. PMID: 32449975.
      Citations:    Fields:    Translation:HumansAnimals
    22. Thompson W, Carey PZ, Donald T, Nelson B, Bhoj EJ, Li D, Hakonarson H, Ramirez M, Elsea SH, Smith JL, Carey JC, Sobering AK. Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Mol Genet Genomic Med. 2020 08; 8(8):e1318. PMID: 32511891.
      Citations: 2     Fields:    Translation:Humans
    23. Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020 09; 22(9):1560-1566. PMID: 32439973.
      Citations: 3     Fields:    Translation:Humans
    24. Tsang YH, Wang Y, Kong K, Grzeskowiak C, Zagorodna O, Dogruluk T, Lu H, Villafane N, Bhavana VH, Moreno D, Elsea SH, Liang H, Mills GB, Scott KL. Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression. Elife. 2020 04 09; 9. PMID: 32270762.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    25. Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64. PMID: 32173240.
      Citations: 8     Fields:    Translation:HumansCells
    26. Ford L, Kennedy AD, Goodman KD, Pappan KL, Evans AM, Miller LAD, Wulff JE, Wiggs BR, Lennon JJ, Elsea S, Toal DR. Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism. J Appl Lab Med. 2020 03 01; 5(2):342-356. PMID: 32445384.
      Citations: 25     Fields:    Translation:Humans
    27. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WJ, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:1344. PMID: 32082103.
    28. Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761. PMID: 31970900.
      Citations: 4     Fields:    Translation:Humans
    29. Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 2020 04; 133:115219. PMID: 31923704.
      Citations: 2     Fields:    Translation:Humans
    30. Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N. Sphingolipid Metabolism Perturbations in Rett Syndrome. Metabolites. 2019 Oct 10; 9(10). PMID: 31658741.
      Citations: 5     
    31. Glinton KE, Elsea SH. Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. Front Psychiatry. 2019; 10:647. PMID: 31551836.
      Citations: 13     
    32. Black DD, Mack C, Kerkar N, Miloh T, Sundaram SS, Anand R, Gupta A, Alonso E, Arnon R, Bulut P, Karpen S, Lin CH, Rosenthal P, Ryan M, Squires RH, Valentino P, Elsea SH, Shneider BL. A Prospective Trial of Withdrawal and Reinstitution of Ursodeoxycholic Acid in Pediatric Primary Sclerosing Cholangitis. Hepatol Commun. 2019 Nov; 3(11):1482-1495. PMID: 31701072.
      Citations: 3     
    33. Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 10; 179(10):2138-2143. PMID: 31290619.
      Citations: 4     Translation:HumansCells
    34. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30850373.
      Citations: 9     Fields:    Translation:HumansCells
    35. Yazdani A, Yazdani A, Elsea SH, Schaid DJ, Kosorok MR, Dangol G, Samiei A. Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics. BMC Genomics. 2019 May 21; 20(1):395. PMID: 31113383.
      Citations: 2     Fields:    Translation:Humans
    36. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WE, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:394. PMID: 31133775.
      Citations: 6     
    37. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16. PMID: 30909959.
      Citations:    Fields:    
    38. Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019. PMID: 30864297.
      Citations: 8     Translation:Humans
    39. Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807. PMID: 30848071.
      Citations: 7     Fields:    Translation:Humans
    40. 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 05; 179(5):782-791. PMID: 30848064.
      Citations: 7     Fields:    Translation:HumansCells
    41. 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 05; 42(3):509-518. PMID: 30684275.
      Citations:    Fields:    Translation:HumansCells
    42. Shayota BJ, Elsea SH. Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry. 2019 03; 32(2):73-78. PMID: 30557269.
      Citations: 4     Fields:    Translation:Humans
    43. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12. PMID: 30819258.
      Citations: 7     Fields:    Translation:Humans
    44. Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478. PMID: 30677142.
      Citations: 12     Fields:    Translation:Humans
    45. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986. PMID: 30670878.
      Citations: 11     Fields:    Translation:Humans
    46. Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Mol Genet Metab Rep. 2019 Mar; 18:14-18. PMID: 30619714.
      Citations: 7     
    47. 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 Nov; 53(11):1143-1154. PMID: 30242936.
      Citations: 17     Fields:    Translation:Humans
    48. Pankowicz FP, Barzi M, Kim KH, Legras X, Martins CS, Wooton-Kee CR, Lagor WR, Marini JC, Elsea SH, Bissig-Choisat B, Moore DD, Bissig KD. Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing. Gastroenterology. 2018 12; 155(6):1967-1970.e6. PMID: 30170115.
      Citations: 8     Fields:    Translation:AnimalsCells
    49. Stowe RC, Sun Q, Elsea SH, Scaglia F. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189. PMID: 29681092.
      Citations: 4     Translation:Humans
    50. Jiang Y, Mistretta B, Elsea SH, Sun Q. Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies. Bioanalysis. 2018 May 01; 10(10):747-756. PMID: 29774761.
      Citations:    Fields:    Translation:Humans
    51. 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 10; 20(10):1274-1283. PMID: 29419819.
      Citations: 14     Fields:    Translation:Humans
    52. 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 02; 176(2):483-486. PMID: 29278455.
      Citations: 3     Translation:Humans
    53. Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316. PMID: 29269105.
      Citations: 14     Fields:    Translation:HumansCells
    54. Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One. 2017; 12(9):e0184022. PMID: 28961260.
      Citations: 10     Fields:    Translation:Humans
    55. 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 12; 38(12):1774-1785. PMID: 28940898.
      Citations: 4     Fields:    Translation:HumansCells
    56. Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SH. Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 11; 122(3):39-45. PMID: 28888854.
      Citations: 2     Fields:    Translation:Humans
    57. Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. Pediatr Neurol. 2017 Oct; 75:66-72. PMID: 28823629.
      Citations: 7     Fields:    Translation:Humans
    58. Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 08; 121(4):314-319. PMID: 28673551.
      Citations: 13     Fields:    Translation:HumansCells
    59. Kennedy AD, Pappan KL, Donti TR, Evans AM, Wulff JE, Miller LAD, Reid Sutton V, Sun Q, Miller MJ, Elsea SH. Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. Mol Genet Metab. 2017 06; 121(2):83-90. PMID: 28412083.
      Citations: 19     Fields:    Translation:Humans
    60. Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1344-1350.e3. PMID: 28286158.
      Citations: 2     Fields:    Translation:HumansCells
    61. 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 Sep; 6(3):155-164. PMID: 28794907.
      Citations: 2     
    62. Jain M, Kennedy AD, Elsea SH, Miller MJ. Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies. Clin Chim Acta. 2017 Mar; 466:105-111. PMID: 28069401.
      Citations: 8     Fields:    Translation:HumansCells
    63. Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2017; 35:33-37. PMID: 27900673.
      Citations: 2     
    64. Jiang Y, Mistretta B, Elsea S, Sun Q. Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry. Clin Chim Acta. 2017 Jan; 464:93-97. PMID: 27845054.
      Citations: 3     Fields:    Translation:Humans
    65. Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470. PMID: 27860360.
      Citations: 4     Translation:Humans
    66. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2016 09; 39(5):757. PMID: 27225280.
      Citations: 1     Fields:    
    67. Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, 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 08 30; 7:12642. PMID: 27572891.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    68. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 08; 24(9):1376. PMID: 27514998.
      Citations: 4     Fields:    
    69. Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6. PMID: 27504266.
      Citations: 22     
    70. Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95. PMID: 27448163.
      Citations: 17     Fields:    Translation:Humans
    71. Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74. PMID: 27386852.
      Citations: 2     Fields:    Translation:HumansCells
    72. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 08; 24(9):1235-43. PMID: 27222293.
      Citations: 5     Fields:    Translation:HumansCells
    73. Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SH. Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016; 30:39-44. PMID: 26936850.
      Citations: 19     
    74. Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2. PMID: 26602010.
      Citations: 8     Fields:    Translation:Humans
    75. Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. Mol Cytogenet. 2015; 8:75. PMID: 26442755.
      Citations: 1     
    76. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27. PMID: 26358771.
      Citations: 13     Fields:    Translation:HumansAnimals
    77. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45. PMID: 26385305.
      Citations: 23     Fields:    Translation:HumansPHPublic Health
    78. Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. Res Dev Disabil. 2015 Dec; 47:27-38. PMID: 26323055.
      Citations: 6     Fields:    Translation:Humans
    79. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". Am J Med Genet A. 2015 Oct; 167A(10):2496. PMID: 26355286.
      Citations: 3     
    80. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. PMID: 25943046.
      Citations: 12     Translation:Humans
    81. 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 Jun-Jul; 115(2-3):91-4. PMID: 25956449.
      Citations: 17     Fields:    Translation:Humans
    82. 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 Nov; 38(6):1029-39. PMID: 25875217.
      Citations: 68     Fields:    Translation:HumansPHPublic Health
    83. Mullegama SV, Alaimo JT, Chen L, Elsea SH. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. Int J Mol Sci. 2015 Apr 07; 16(4):7627-43. PMID: 25853262.
      Citations: 12     Fields:    Translation:HumansCells
    84. Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015 Apr-Jun; 19(2):149-56. PMID: 26384114.
      Citations: 5     Fields:    Translation:Humans
    85. Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. PMID: 25781356.
      Citations: 9     Fields:    Translation:Humans
    86. 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. 2015 Jan; 45(1):100-10. PMID: 25059483.
      Citations: 18     Fields:    Translation:Humans
    87. Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Mol Cytogenet. 2014; 7(1):80. PMID: 25426169.
      Citations: 4     
    88. 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 Jun; 23(6):781-9. PMID: 25271084.
      Citations: 12     Fields:    Translation:HumansCells
    89. Alaimo JT, Hahn NC, Hahn NH, Mullegama SV, Elsea SH. Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077. PMID: 25127133.
      Citations: 4     Fields:    Translation:Animals
    90. Tahir R, Kennedy A, Elsea SH, Dickinson AJ. Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. Mech Dev. 2014 Aug; 133:91-104. PMID: 24878353.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    91. Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9. PMID: 24889030.
      Citations: 1     Fields:    Translation:HumansCells
    92. Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M. Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biol Open. 2014 Apr 04; 3(5):342-52. PMID: 24705017.
      Citations: 4     
    93. Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014; 1:176-183. PMID: 25419514.
      Citations: 9     
    94. Stofanko M, Han JC, Elsea SH, Pena HB, Gonçalves-Dornelas H, Pena SD. Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. Dis Markers. 2013; 35(6):589-94. PMID: 24288428.
      Citations:    Fields:    Translation:HumansCells
    95. Le TN, Elsea SH, Romero R, Chaiworapongsa T, Francis GL. Prolactin receptor gene polymorphisms are associated with gestational diabetes. Genet Test Mol Biomarkers. 2013 Jul; 17(7):567-71. PMID: 23651351.
      Citations: 19     Fields:    Translation:Humans
    96. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
      Citations: 21     Fields:    Translation:HumansCells
    97. Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79. PMID: 23587880.
      Citations: 34     Fields:    Translation:Humans
    98. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72. PMID: 22770980.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    99. 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 Aug; 158A(8):2015-20. PMID: 22753018.
      Citations: 14     Translation:Humans
    100. 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 Oct; 56(10):996-1007. PMID: 22672270.
      Citations:    Fields:    Translation:Humans
    101. 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; 8(5):e1002713. PMID: 22654670.
      Citations: 24     Fields:    Translation:HumansAnimals
    102. 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 Jun 08; 90(6):941-9. PMID: 22578325.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    103. 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 Apr; 20(4):398-403. PMID: 22085900.
      Citations: 16     Fields:    Translation:HumansCells
    104. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. 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 Oct 07; 89(4):551-63. PMID: 21981781.
      Citations: 92     Fields:    Translation:HumansCells
    105. 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 Apr 19; 13:e14. PMID: 21545756.
      Citations: 17     Fields:    Translation:Humans
    106. 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 Oct 08; 11:142. PMID: 20932317.
      Citations: 13     Fields:    Translation:HumansCells
    107. 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 Aug 13; 87(2):219-28. PMID: 20691407.
      Citations: 109     Fields:    Translation:HumansCells
    108. 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 Oct 15; 19(20):4026-42. PMID: 20663924.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    109. 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 Apr; 19(2):187-98. PMID: 20151318.
      Citations: 8     Fields:    Translation:Humans
    110. 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 Apr; 18(4):436-41. PMID: 19904302.
      Citations: 42     Fields:    Translation:HumansCells
    111. 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 Apr; 47(4):223-9. PMID: 19752160.
      Citations: 10     Fields:    Translation:Humans
    112. Girirajan S, Elsea SH. Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mamm Genome. 2009 Apr; 20(4):247-55. PMID: 19319603.
      Citations: 8     Fields:    Translation:HumansAnimals
    113. Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clin Genet. 2009 Apr; 75(4):364-74. PMID: 19236431.
      Citations: 21     Fields:    Translation:HumansCells
    114. Girirajan S, Elsea SH. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet. 2009 Jul-Aug; 52(4):224-8. PMID: 19116176.
      Citations: 5     Fields:    Translation:Animals
    115. 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 Apr; 19(4):246-62. PMID: 18343975.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    116. 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 Mar; 12(1):67-73. PMID: 18373405.
      Citations: 5     Fields:    Translation:HumansCells
    117. 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 Mar 01; 146A(5):636-43. PMID: 17334992.
      Citations: 14     Translation:HumansCells
    118. 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 Aug; 16(8):941-54. PMID: 18285828.
      Citations: 27     Fields:    Translation:Animals
    119. Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr; 16(4):412-21. PMID: 18231123.
      Citations: 73     Fields:    Translation:HumansCells
    120. Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet. 2007 Jul; 72(1):47-58. PMID: 17594399.
      Citations: 10     Fields:    Translation:HumansCells
    121. 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 Jun; 71(6):540-50. PMID: 17539903.
      Citations: 59     Fields:    Translation:HumansCells
    122. 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 01; 143A(9):999-1008. PMID: 17431895.
      Citations: 5     Translation:HumansCells
    123. Gropman AL, Elsea S, Duncan WC, Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34. PMID: 17351481.
      Citations: 22     Fields:    Translation:HumansCells
    124. 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 Nov 15; 140(22):2454-63. PMID: 17041942.
      Citations: 25     Translation:HumansCells
    125. 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 Jul; 8(7):417-27. PMID: 16845274.
      Citations: 44     Fields:    Translation:HumansCells
    126. Girirajan S, Elsea SH. Brachydactyly A1: new relatives for old families? J Genet. 2005 Aug; 84(2):95-8. PMID: 16131709.
      Citations: 1     Fields:    Translation:Humans
    127. Girirajan S, Elsas LJ, Devriendt K, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8. PMID: 15788730.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    128. 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 Jan 30; 132A(3):278-82. PMID: 15690371.
      Citations: 6     Translation:HumansCells
    129. 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. PMID: 16113534.
      Citations: 4     Fields:    Translation:Humans
    130. Smith AC, Magenis RE, Elsea SH. Overview of Smith-Magenis syndrome. J Assoc Genet Technol. 2005; 31(4):163-7. PMID: 16354942.
      Citations: 8     
    131. 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 Jun; 79(2):134-41. PMID: 12809645.
      Citations: 27     Fields:    Translation:HumansCells
    132. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8. PMID: 12652298.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    133. 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 May-Jun; 4(3):118-25. PMID: 12180145.
      Citations: 17     Fields:    Translation:HumansCells
    134. 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. PMID: 11917158.
      Citations: 32     Fields:    Translation:HumansAnimals
    135. 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 Dec; 9(12):892-902. PMID: 11840190.
      Citations: 7     Fields:    Translation:HumansCells
    136. 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 Jan; 30(1):38-47. PMID: 11107174.
      Citations: 17     Fields:    Translation:HumansCells
    137. Elsea SH, Leykam V. HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers. Blood. 2000 Apr 01; 95(7):2453-5. PMID: 10787240.
      Citations:    Fields:    Translation:Humans
    138. 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(3-4):283-5. PMID: 10828610.
      Citations: 2     Fields:    Translation:HumansCells
    139. 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 Dec 03; 87(4):342-8. PMID: 10588842.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    140. 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(1-2):48-9. PMID: 10343100.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    141. 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 Dec 11; 273(50):33540-7. PMID: 9837935.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    142. 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 Jan 06; 75(1):104-8. PMID: 9450867.
      Citations: 1     Fields:    Translation:HumansCells
    143. 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. PMID: 9691181.
      Citations: 7     Fields:    Translation:HumansCells
    144. 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 Apr 29; 94(9):4538-42. PMID: 9114025.
      Citations: 7     Fields:    Translation:HumansCells
    145. 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 Mar 11; 36(10):2919-24. PMID: 9062121.
      Citations: 11     Fields:    Translation:AnimalsCells
    146. 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(3-4):276-81. PMID: 9605871.
      Citations: 4     Fields:    Translation:HumansCells
    147. 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. PMID: 8651284.
      Citations: 36     Fields:    Translation:HumansCells
    148. 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 Dec; 57(6):1342-50. PMID: 8533763.
      Citations: 5     Fields:    Translation:HumansCells
    149. 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 Nov 24; 270(47):28018-21. PMID: 7499285.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    150. 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 Sep 01; 270(35):20359-64. PMID: 7657608.
      Citations: 13     Fields:    Translation:AnimalsCells
    151. 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 Jan 27; 270(4):1913-20. PMID: 7829529.
      Citations: 23     Fields:    Translation:HumansAnimalsCells
    152. 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 Jun; 46(6):491-6. PMID: 7932045.
      Citations: 1     Fields:    Translation:AnimalsCells
    153. 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 Suppl:S19-25. PMID: 8070023.
      Citations: 3     Fields:    Translation:HumansAnimals
    154. 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 Oct; 37(10):2179-86. PMID: 8257142.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    155. 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 Jul 05; 267(19):13150-3. PMID: 1320012.
      Citations: 25     Fields:    Translation:Animals
    156. 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. 1992 Jan-Feb; 20(1):23-30. PMID: 1346992.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
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