Header Logo

SARAH ELSEA

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
vCardDownload vCard

    Collapse Research 
    Collapse research activities and funding
    R21HD106345     (SISLEY, STEPHANIE RENEE)Aug 26, 2022 - Jul 31, 2024
    NIH
    REFINING METRICS OF FOOD BEHAVIOR IN SMITH-MAGENIS SYNDROME
    Role: Co-Principal Investigator
    R01CA211176     (ELSEA, SARAH H.)Dec 5, 2016 - Nov 30, 2021
    NIH
    Preclinical Analyses of NAD Kinase as a Redox Vulnerability for the Treatment of Pancreatic Cancer
    Role: Principal Investigator
    R03HD065726     (ELSEA, SARAH H.)Sep 1, 2010 - Feb 29, 2012
    NIH
    Establishing zebrafish as a model for rai1 gene dosage
    Role: Principal Investigator
    R01HD038534     (ELSEA, SARAH H.)Aug 1, 2001 - Jun 30, 2007
    NIH
    Molecular Analysis of del(17)(p11.2)
    Role: Principal Investigator
    F32HD008010     (ELSEA, SARAH H.)Feb 15, 1996
    NIH
    MOLECULAR GENETICS OF SMITH-MAGENIS SYNDROME
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Lazareva J, Sisley SR, Brady SM, Smith ACM, Elsea SH, Pomeroy JJ, Roth CL, Sprague JE, Wabitsch M, Garrison J, Yanovski JA. Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome. Obes Res Clin Pract. 2024 Jul-Aug; 18(4):301-307. PMID: 38987029; PMCID: PMC11427144.
      Citations:    Fields:    Translation:Humans
    2. Yazdani A, Mendez-Giraldez R, Yazdani A, Wang RS, Schaid DJ, Kong SW, Hadi MR, Samiei A, Samiei E, Wittenbecher C, Lasky-Su J, Clish CB, Muehlschlegel JD, Marotta F, Loscalzo J, Mora S, Chasman DI, Larson MG, Elsea SH. Broadcasters, receivers, functional groups of metabolites, and the link to heart failure by revealing metabolomic network connectivity. Metabolomics. 2024 Jul 07; 20(4):71. PMID: 38972029.
      Citations:    Fields:    Translation:Humans
    3. Glinton KE, Gijavanekar C, Rajagopal A, Mackay LP, Martin KA, Pearl PL, Gibson KM, Wilson TA, Sutton VR, Elsea SH. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 2024; 15:1405468. PMID: 39011401; PMCID: PMC11247174.
      Citations:    
    4. Elatrash C, Shi J, Wilson T, Elsea SH, Sisley S. Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome. Genet Med Open. 2024; 2. PMID: 39119119; PMCID: PMC11309085.
      Citations: 1     
    5. Elsea SH, Beaudet AL. Memorial: William E. O'Brien, Ph.D. Mol Genet Metab. 2024 Mar 25; 142(1):108435. PMID: 38531185.
      Citations:    Fields:    
    6. Shaath R, Al-Maraghi A, Ali H, AlRayahi J, Kennedy AD, DeBalsi KL, Hussein S, Elbashir N, Padmajeya SS, Palaniswamy S, Elsea SH, Akil AA, Yousri NA, Fakhro KA. Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder. Metabolites. 2024 Mar 04; 14(3). PMID: 38535312; PMCID: PMC10972350.
      Citations:    
    7. Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87. PMID: 38438854; PMCID: PMC10910770.
      Citations:    Fields:    Translation:Humans
    8. Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garc?a-Cazorla ?, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juli?-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppeb?en M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May; 142(1):108363. PMID: 38452608; PMCID: PMC11073920.
      Citations: 1     Fields:    Translation:Humans
    9. Snyder MT, Manor J, Gijavanekar C, Mizerik E, Kralik SF, Elsea SH, Machol K, Emrick L, Scaglia F. Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 03; 194(3):e63461. PMID: 37953071.
      Citations:    Fields:    Translation:Humans
    10. Glinton KE, Minard CG, Liu N, Sun Q, Elsea SH, Burrage LC, Nagamani SCS. Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. Mol Genet Metab. 2023 11; 140(3):107699. PMID: 37717413; PMCID: PMC11162249.
      Citations:    Fields:    Translation:Humans
    11. Yazdani A, Mendez-Giraldez R, Yazdani A, Schaid D, Won Kong S, Hadi M, Samiei A, Wittenbecher C, Lasky-Su J, Clish C, Marotta F, Kosorok M, Mora S, Muehlschlegel J, Chasman D, Larson M, Elsea S. Broadcasters, receivers, functional groups of metabolites and the link to heart failure progression using polygenic factors. Res Sq. 2023 Aug 18. PMID: 37645766; PMCID: PMC10462252.
      Citations:    
    12. Gandhi A, Elsea SH. Editorial: Insights in neurogenomics: 2022. Front Genet. 2023; 14:1252582. PMID: 37609035; PMCID: PMC10442150.
      Citations:    
    13. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, Garc?a-Cazorla ?, Gijavanekar C, G?m?s EY, Hamad MH, Hismi B, Honzik T, Kuseyri H?bschmann O, Hwu WL, Ib??ez-Mic? S, Jeltsch K, Juli?-Palacios N, Kasapkara ?S, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, P?rez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Th?ny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 Aug; 139(4):107647. PMID: 37453860.
      Citations: 1     Fields:    
    14. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, Garc?a-Cazorla ?, Gijavanekar C, G?m?s EY, Hamad MH, Hismi B, Honzik T, H?bschmann OK, Hwu WL, Ib??ez-Mic? S, Jeltsch K, Juli?-Palacios N, Kasapkara ?S, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, P?rez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Th?ny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 07; 139(3):107624. PMID: 37348148.
      Citations: 3     Fields:    Translation:Humans
    15. Gijavanekar C, Elsea SH. Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification. Curr Protoc. 2023 Apr; 3(4):e720. PMID: 37036266.
      Citations:    Fields:    Translation:Humans
    16. Elsea SH, Razjouyan J, Lee KM, Lynch JA, Martini S, Pandit LM. Association of Glucose-6-Phosphate Dehydrogenase Deficiency With Outcomes in US Veterans With COVID-19. JAMA Netw Open. 2023 03 01; 6(3):e235626. PMID: 36988953; PMCID: PMC10061239.
      Citations:    Fields:    Translation:HumansCells
    17. Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372. PMID: 36751706.
      Citations:    Fields:    Translation:Humans
    18. Elsea SH, Posey JE. Metabolic individuality: Limitations, challenges, and potential for clinical utility. Cell Metab. 2023 02 07; 35(2):233-235. PMID: 36754017.
      Citations:    Fields:    Translation:Humans
    19. McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Hum Mol Genet. 2023 01 13; 32(3):386-401. PMID: 35981081; PMCID: PMC10310974.
      Citations:    
    20. Himmelreich N, Montioli R, Garbade SF, Kopesky J, Elsea SH, Carducci C, Voltattorni CB, Blau N. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. Mol Genet Metab. 2022 Dec; 137(4):359-381. PMID: 36427457.
      Citations: 4     Fields:    
    21. Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. PMID: 35934918; PMCID: PMC9669137.
      Citations:    
    22. Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40. PMID: 35231119.
      Citations:    Fields:    Translation:Humans
    23. Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR, Tajsharghi H, Travaglini L, Nicita F. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321. PMID: 35471564; PMCID: PMC10054521.
      Citations:    Fields:    Translation:Humans
    24. Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022 Jul; 63(4):309-315. PMID: 35822097; PMCID: PMC9259396.
      Citations:    
    25. Gandhi AA, Wilson TA, Sisley S, Elsea SH, Foster RH. Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome. Res Dev Disabil. 2022 Aug; 127:104257. PMID: 35597045.
      Citations:    Fields:    Translation:Humans
    26. 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. 2022 04 29; 145(3):909-924. PMID: 34605855; PMCID: PMC9050560.
      Citations: 2     Fields:    Translation:Humans
    27. Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A. Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data. Sci Rep. 2022 04 21; 12(1):6556. PMID: 35449147; PMCID: PMC9023513.
      Citations:    Fields:    Translation:Humans
    28. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110. PMID: 35637064; PMCID: PMC9893913.
      Citations:    Fields:    Translation:HumansAnimals
    29. Milosavljevic S, Glinton KE, Li X, Gillespie P, Seavitt JR, Graham BH, Elsea SH, Medeiros C. Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis. Metabolites. 2022 Apr 14; 12(4). PMID: 35448538; PMCID: PMC9032242.
      Citations:    
    30. Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Mol Genet Genomic Med. 2022 04; 10(4):e1900. PMID: 35189041; PMCID: PMC9000934.
      Citations: 1     Fields:    Translation:HumansCells
    31. 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:    Translation:Humans
    32. 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; PMCID: PMC8544872.
      Citations:    Fields:    
    33. Ford L, Mitchell M, Wulff J, Evans A, Kennedy A, Elsea S, Wittmann B, Toal D. Clinical metabolomics for inborn errors of metabolism. Adv Clin Chem. 2022; 107:79-138. PMID: 35337606.
      Citations:    Fields:    Translation:Humans
    34. 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:    Translation:Humans
    35. 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 12; 23(12):2426-2432. PMID: 34316024; PMCID: PMC8629754.
      Citations: 1     Fields:    Translation:Humans
    36. 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: 1     Fields:    Translation:Humans
    37. 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; PMCID: PMC8276086.
      Citations: 3     Fields:    Translation:HumansPHPublic Health
    38. 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
    39. 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; PMCID: PMC8163803.
      Citations:    Fields:    Translation:HumansCells
    40. 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:    Translation:Humans
    41. 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; PMCID: PMC7875364.
      Citations: 5     Fields:    Translation:HumansCells
    42. Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, DDD Study, 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; PMCID: PMC7841527.
      Citations: 1     
    43. 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
    44. 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; PMCID: PMC7963427.
      Citations:    Fields:    Translation:Humans
    45. 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; PMCID: PMC8683562.
      Citations: 3     Fields:    Translation:Humans
    46. 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; PMCID: PMC7734579.
      Citations:    Fields:    Translation:HumansAnimals
    47. 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
    48. 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; PMCID: PMC8630378.
      Citations: 1     Fields:    Translation:HumansCells
    49. 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
    50. 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: 1     Fields:    Translation:HumansAnimals
    51. Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, 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, Gokcay G, Torcoletti M, Ferreira CR, Lampe C, Ehlert K, Hahn A. 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
    52. 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; PMCID: PMC7434751.
      Citations: 2     Fields:    Translation:Humans
    53. 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; PMCID: PMC7483344.
      Citations: 8     Fields:    Translation:Humans
    54. 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; PMCID: PMC7164953.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    55. 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; PMCID: PMC8399858.
      Citations: 12     Fields:    Translation:HumansCells
    56. 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: 38     Fields:    Translation:Humans
    57. 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; PMCID: PMC7001677.
      Citations:    
    58. 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
    59. Cusmano-Ozog K, Koenig R, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, Elsea SH, Ferreira CR, Ehmke N, Holtgrewe M, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Cormier-Daire V. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 2020 04; 133:115219. PMID: 31923704; PMCID: PMC10521254.
      Citations: 2     Fields:    Translation:Humans
    60. 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; PMCID: PMC6835521.
      Citations: 6     
    61. Glinton KE, Elsea SH. Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. Front Psychiatry. 2019; 10:647. PMID: 31551836; PMCID: PMC6746843.
      Citations: 22     
    62. 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; PMCID: PMC6824074.
      Citations: 4     Fields:    
    63. 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: 5     Fields:    Translation:HumansCells
    64. 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; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    65. 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; PMCID: PMC6528192.
      Citations: 3     Fields:    Translation:Humans
    66. 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; PMCID: PMC6517487.
      Citations: 9     
    67. 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, 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, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. 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; PMCID: PMC6434874.
      Citations:    Fields:    
    68. 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; PMCID: PMC9873405.
      Citations: 14     Fields:    Translation:Humans
    69. 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: 8     Fields:    Translation:HumansCells
    70. 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; PMCID: PMC9873404.
      Citations: 8     Fields:    Translation:Humans
    71. 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; PMCID: PMC8564860.
      Citations:    Fields:    Translation:HumansCells
    72. Shayota BJ, Elsea SH. Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry. 2019 03; 32(2):73-78. PMID: 30557269; PMCID: PMC6362978.
      Citations: 5     Fields:    Translation:Humans
    73. 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, 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, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. 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; PMCID: PMC6393995.
      Citations: 10     Fields:    Translation:Humans
    74. Zollino M, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, 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, Hennekam RC, Zweier C, Giurgea I, Macchiaiolo M, Whalen S. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478. PMID: 30677142.
      Citations: 15     Fields:    Translation:Humans
    75. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, 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; PMCID: PMC6650380.
      Citations: 16     Fields:    Translation:Humans
    76. 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; PMCID: PMC6312870.
      Citations: 7     
    77. 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: 23     Fields:    Translation:Humans
    78. 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; PMCID: PMC6420307.
      Citations: 9     Fields:    Translation:AnimalsCells
    79. 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
    80. 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: 6     Fields:    Translation:Humans
    81. 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; PMCID: PMC7605708.
      Citations: 19     Fields:    Translation:Humans
    82. 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: 4     Fields:    Translation:Humans
    83. 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
    84. 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; PMCID: PMC5621665.
      Citations: 12     Fields:    Translation:Humans
    85. 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; PMCID: PMC5679464.
      Citations: 4     Fields:    Translation:HumansCells
    86. 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
    87. 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: 8     Fields:    Translation:Humans
    88. 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; PMCID: PMC7539367.
      Citations: 21     Fields:    Translation:HumansCells
    89. 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; PMCID: PMC6200411.
      Citations: 22     Fields:    Translation:Humans
    90. 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; PMCID: PMC5591748.
      Citations: 3     Fields:    Translation:HumansCells
    91. 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; PMCID: PMC5548529.
      Citations: 4     
    92. 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; PMCID: PMC5321821.
      Citations: 9     Fields:    Translation:HumansCells
    93. 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; PMCID: PMC5585109.
      Citations: 2     
    94. 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
    95. 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: 6     Fields:    Translation:Humans
    96. 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; PMCID: PMC6830037.
      Citations: 1     Fields:    
    97. 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; PMCID: PMC5013601.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    98. 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; PMCID: PMC4989217.
      Citations: 4     Fields:    
    99. 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; PMCID: PMC4969260.
      Citations: 25     
    100. 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; PMCID: PMC5314726.
      Citations: 20     Fields:    Translation:Humans
    101. Yuan B, Neira J, Gu S, Harel T, Liu P, Elsea SH, Potocki L, Lupski JR, Brice?o I, G?mez A. 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; PMCID: PMC5021589.
      Citations: 2     Fields:    Translation:HumansCells
    102. 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; PMCID: PMC4989212.
      Citations: 5     Fields:    Translation:HumansCells
    103. 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; PMCID: PMC5110437.
      Citations: 21     
    104. 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; PMCID: PMC4729603.
      Citations: 11     Fields:    Translation:Humans
    105. 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; PMCID: PMC4594966.
      Citations: 2     
    106. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Members of Urea Cycle Disorders Consortium, 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; PMCID: PMC5007608.
      Citations: 15     Fields:    Translation:HumansAnimals
    107. 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; PMCID: PMC4790081.
      Citations: 26     Fields:    Translation:HumansPHPublic Health
    108. 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: 10     Fields:    Translation:Humans
    109. 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     Fields:    
    110. 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: 15     Fields:    Translation:Humans
    111. 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: 20     Fields:    Translation:Humans
    112. 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; PMCID: PMC4626538.
      Citations: 77     Fields:    Translation:HumansPHPublic Health
    113. 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; PMCID: PMC4425039.
      Citations: 17     Fields:    Translation:HumansCells
    114. 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: 8     Fields:    Translation:Humans
    115. 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; PMCID: PMC4422892.
      Citations: 11     Fields:    Translation:Humans
    116. 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; PMCID: PMC4289108.
      Citations: 22     Fields:    Translation:Humans
    117. Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Mol Cytogenet. 2014; 7(1):80. PMID: 25426169; PMCID: PMC4243375.
      Citations: 4     
    118. 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; PMCID: PMC4795052.
      Citations: 16     Fields:    Translation:HumansCells
    119. 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; PMCID: PMC4134272.
      Citations: 4     Fields:    Translation:Animals
    120. 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: 16     Fields:    Translation:HumansAnimalsCells
    121. 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: 2     Fields:    Translation:HumansCells
    122. 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; PMCID: PMC4021356.
      Citations: 5     Fields:    
    123. 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; PMCID: PMC4235665.
      Citations: 10     
    124. Han JC, Elsea SH, Stofanko M, Pena HB, Gon?alves-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; PMCID: PMC3830787.
      Citations:    Fields:    Translation:HumansCells
    125. 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; PMCID: PMC3700434.
      Citations: 22     Fields:    Translation:Humans
    126. 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; PMCID: PMC3865402.
      Citations: 22     Fields:    Translation:HumansCells
    127. 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; PMCID: PMC4756476.
      Citations: 36     Fields:    Translation:Humans
    128. 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; PMCID: PMC3397276.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    129. Morris B, Bourthoumieu S, Reynaud-Perrine S, Lebbar A, Yardin C, Elsea SH, Etoubleau C, Laroche C. 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: 16     Fields:    Translation:Humans
    130. 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
    131. 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; PMCID: PMC3359973.
      Citations: 28     Fields:    Translation:HumansAnimals
    132. 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; PMCID: PMC3370274.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    133. 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; PMCID: PMC3306850.
      Citations: 17     Fields:    Translation:HumansCells
    134. 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; PMCID: PMC3188839.
      Citations: 97     Fields:    Translation:HumansCells
    135. 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: 19     Fields:    Translation:Humans
    136. 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; PMCID: PMC2964533.
      Citations: 15     Fields:    Translation:HumansCells
    137. 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; PMCID: PMC2917703.
      Citations: 122     Fields:    Translation:HumansCells
    138. 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; PMCID: PMC7714048.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    139. 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: 11     Fields:    Translation:Humans
    140. 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; PMCID: PMC2987257.
      Citations: 43     Fields:    Translation:HumansCells
    141. 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
    142. 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: 9     Fields:    Translation:HumansAnimals
    143. 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
    144. 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: 6     Fields:    Translation:Animals
    145. 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: 6     Fields:    Translation:HumansAnimalsCells
    146. 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
    147. Nakamine A, Ouchanov L, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA, Jim?nez P. 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     Fields:    Translation:HumansCells
    148. 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: 28     Fields:    Translation:Animals
    149. Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr; 16(4):412-21. PMID: 18231123.
      Citations: 80     Fields:    Translation:HumansCells
    150. 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
    151. 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: 62     Fields:    Translation:HumansCells
    152. 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: 6     Fields:    Translation:HumansCells
    153. 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: 25     Fields:    Translation:HumansCells
    154. 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     Fields:    Translation:HumansCells
    155. 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: 50     Fields:    Translation:HumansCells
    156. 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
    157. 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; PMCID: PMC1735950.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    158. 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: 7     Fields:    Translation:HumansCells
    159. 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
    160. Smith AC, Magenis RE, Elsea SH. Overview of Smith-Magenis syndrome. J Assoc Genet Technol. 2005; 31(4):163-7. PMID: 16354942.
      Citations: 10     
    161. 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: 32     Fields:    Translation:HumansCells
    162. 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: 128     Fields:    Translation:HumansAnimalsCells
    163. 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: 22     Fields:    Translation:HumansCells
    164. 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: 41     Fields:    Translation:HumansAnimals
    165. 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: 8     Fields:    Translation:HumansCells
    166. O'Dorisio MS, Dai Z, Rush LJ, Krahe R, Smiraglia DJ, Pietsch T, Elsea SH, Plass C, Fr?hwald MC. 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
    167. 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
    168. 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: 3     Fields:    Translation:HumansCells
    169. 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
    170. 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
    171. 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: 19     Fields:    Translation:HumansAnimalsCells
    172. 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
    173. 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: 8     Fields:    Translation:HumansCells
    174. 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; PMCID: PMC20758.
      Citations: 7     Fields:    Translation:HumansCells
    175. 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: 12     Fields:    Translation:AnimalsCells
    176. 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: 3     Fields:    Translation:HumansCells
    177. 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; PMCID: PMC1914618.
      Citations: 35     Fields:    Translation:HumansCells
    178. 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; PMCID: PMC1801426.
      Citations: 5     Fields:    Translation:HumansCells
    179. 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
    180. 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: 15     Fields:    Translation:AnimalsCells
    181. 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: 26     Fields:    Translation:HumansAnimalsCells
    182. 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
    183. 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
    184. 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; PMCID: PMC192247.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    185. 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: 30     Fields:    Translation:Animals
    186. 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
    ELSEA's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (658)
    Explore
    _
    Co-Authors (82)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _
    Physical Neighbors
    _