| Year |
Citation |
Score |
| 2022 |
McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, D' Angioli Costa Quaio CR, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, ... ... Elsea SH, et al. Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human Molecular Genetics. PMID 35981081 DOI: 10.1093/hmg/ddac200 |
0.338 |
|
| 2022 |
Calame DG, Herman I, Maroofian R, Marshall AE, Carvalho Donis K, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa S, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, ... ... Elsea SH, et al. Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Annals of Neurology. PMID 35471564 DOI: 10.1002/ana.26381 |
0.312 |
|
| 2021 |
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, ... ... Elsea SH, et al. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a Journal of Neurology. PMID 34605855 DOI: 10.1093/brain/awab369 |
0.703 |
|
| 2021 |
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. Scientific Reports. 11: 11295. PMID 34050248 DOI: 10.1038/s41598-021-90798-z |
0.78 |
|
| 2021 |
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, et al. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. Hgg Advances. 2: 100015. PMID 33537682 DOI: 10.1016/j.xhgg.2020.100015 |
0.365 |
|
| 2020 |
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. International Journal of Molecular Sciences. 21. PMID 33261099 DOI: 10.3390/ijms21239029 |
0.3 |
|
| 2020 |
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. American Journal of Medical Genetics. Part A. PMID 32909658 DOI: 10.1002/Ajmg.A.61851 |
0.381 |
|
| 2020 |
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. Journal of Autism and Developmental Disorders. PMID 32845423 DOI: 10.1007/S10803-020-04666-2 |
0.341 |
|
| 2020 |
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, et al. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Molecular Genetics and Metabolism. PMID 32828637 DOI: 10.1016/J.Ymgme.2020.07.013 |
0.308 |
|
| 2020 |
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. Molecular Genetics & Genomic Medicine. e1318. PMID 32511891 DOI: 10.1002/Mgg3.1318 |
0.397 |
|
| 2020 |
Kaplan KA, Elsea SH, Potocki L. Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. Cns Drugs. PMID 32495322 DOI: 10.1007/S40263-020-00733-5 |
0.389 |
|
| 2020 |
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, et al. ASAH1 pathogenic variants associated with acid ceramidase deficiency (ACD): Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Human Mutation. PMID 32449975 DOI: 10.1002/Humu.24056 |
0.349 |
|
| 2020 |
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. American Journal of Medical Genetics. Part A. PMID 31970900 DOI: 10.1002/Ajmg.A.61491 |
0.394 |
|
| 2020 |
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez A, Muenke M, Balzer A, Jochim J, El Choubassi N, ... ... Elsea S, et al. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 115219. PMID 31923704 DOI: 10.1016/J.Bone.2019.115219 |
0.447 |
|
| 2019 |
Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N. Sphingolipid Metabolism Perturbations in Rett Syndrome. Metabolites. 9. PMID 31658741 DOI: 10.3390/Metabo9100221 |
0.429 |
|
| 2019 |
Glinton KE, Elsea SH. Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. Frontiers in Psychiatry. 10: 647. PMID 31551836 DOI: 10.3389/Fpsyt.2019.00647 |
0.338 |
|
| 2019 |
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. American Journal of Medical Genetics. Part A. PMID 31290619 DOI: 10.1002/Ajmg.A.61288 |
0.408 |
|
| 2019 |
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. Frontiers in Neuroscience. 13: 394. PMID 31133775 DOI: 10.3389/Fnins.2019.00394 |
0.302 |
|
| 2019 |
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. 20: 395. PMID 31113383 DOI: 10.1186/S12864-019-5772-4 |
0.32 |
|
| 2019 |
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, ... ... Elsea SH, et al. 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 Medicine. 11: 16. PMID 30909959 DOI: 10.1186/S13073-019-0630-1 |
0.325 |
|
| 2019 |
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. American Journal of Medical Genetics. Part A. PMID 30848071 DOI: 10.1002/Ajmg.A.61074 |
0.378 |
|
| 2019 |
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. American Journal of Medical Genetics. Part A. PMID 30848064 DOI: 10.1002/Ajmg.A.61089 |
0.684 |
|
| 2019 |
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, ... ... Elsea SH, et al. 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 Medicine. 11: 12. PMID 30819258 DOI: 10.1186/S13073-019-0623-0 |
0.506 |
|
| 2019 |
Zollino M, Zweier C, Van Balkom I, 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, et al. Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement. Clinical Genetics. PMID 30677142 DOI: 10.1111/Cge.13506 |
0.344 |
|
| 2019 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30670878 DOI: 10.1038/S41436-019-0442-0 |
0.304 |
|
| 2019 |
Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in . Molecular Genetics and Metabolism Reports. 18: 14-18. PMID 30619714 DOI: 10.1016/J.Ymgmr.2018.12.005 |
0.391 |
|
| 2018 |
Shayota BJ, Elsea SH. Behavior and sleep disturbance in Smith-Magenis syndrome. Current Opinion in Psychiatry. PMID 30557269 DOI: 10.1097/Yco.0000000000000474 |
0.345 |
|
| 2018 |
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. PMID 30170115 DOI: 10.1053/J.Gastro.2018.08.037 |
0.311 |
|
| 2018 |
Stowe RC, Sun Q, Elsea SH, Scaglia F. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. American Journal of Medical Genetics. Part A. 176: 1184-1189. PMID 29681092 DOI: 10.1002/Ajmg.A.38654 |
0.353 |
|
| 2018 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29419819 DOI: 10.1038/Gim.2017.262 |
0.337 |
|
| 2017 |
Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH. Genetic diagnosis of Down syndrome in an underserved community. American Journal of Medical Genetics. Part A. PMID 29278455 DOI: 10.1002/Ajmg.A.38573 |
0.304 |
|
| 2017 |
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. 12: e0184022. PMID 28961260 DOI: 10.1371/Journal.Pone.0184022 |
0.33 |
|
| 2017 |
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. Human Mutation. PMID 28940898 DOI: 10.1002/Humu.23339 |
0.709 |
|
| 2017 |
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. Journal of Pediatric Genetics. 6: 155-164. PMID 28794907 DOI: 10.1055/S-0037-1599147 |
0.72 |
|
| 2017 |
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. Molecular Genetics and Metabolism. PMID 28673551 DOI: 10.1016/J.Ymgme.2017.06.009 |
0.335 |
|
| 2017 |
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. The Journal of Allergy and Clinical Immunology. in Practice. PMID 28286158 DOI: 10.1016/J.Jaip.2017.01.028 |
0.769 |
|
| 2017 |
Oliveira JS, Souza DHd, Elsea SH, Fonseca CRBd, Ferreira DM. Genotype/Phenotype correlation with partial duplications of 6p and 6q Semina-Ciencias Agrarias. 38: 182. DOI: 10.5433/1679-0367.2017V38N1Suplp182 |
0.446 |
|
| 2016 |
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. American Journal of Medical Genetics. Part A. PMID 27860360 DOI: 10.1002/Ajmg.A.38049 |
0.388 |
|
| 2016 |
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. Nature Communications. 7: 12642. PMID 27572891 DOI: 10.1038/Ncomms12642 |
0.356 |
|
| 2016 |
Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). European Journal of Human Genetics : Ejhg. 24: 1376. PMID 27514998 DOI: 10.1038/ejhg.2016.77 |
0.667 |
|
| 2016 |
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. Molecular Genetics and Metabolism Reports. 8: 61-6. PMID 27504266 DOI: 10.1016/J.Ymgmr.2016.07.007 |
0.387 |
|
| 2016 |
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. Human Genetics. PMID 27386852 DOI: 10.1007/S00439-016-1703-5 |
0.508 |
|
| 2016 |
Mullegama SV, Elsea SH. Clinical and molecular MBD5-neurodevelopmental disorder (MAND). European Journal of Human Genetics : Ejhg. PMID 27222293 DOI: 10.1038/Ejhg.2016.35 |
0.756 |
|
| 2015 |
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. Molecular Cytogenetics. 8: 75. PMID 26442755 DOI: 10.1186/S13039-015-0179-7 |
0.769 |
|
| 2015 |
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 LC. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Molecular Genetics and Metabolism. PMID 26385305 DOI: 10.1016/J.Ymgme.2015.08.011 |
0.369 |
|
| 2015 |
Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Developmental Period Medicine. 20: 149-156. PMID 26384114 |
0.728 |
|
| 2015 |
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. Human Molecular Genetics. PMID 26358771 DOI: 10.1093/Hmg/Ddv352 |
0.305 |
|
| 2015 |
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. Research in Developmental Disabilities. 47: 27-38. PMID 26323055 DOI: 10.1016/J.Ridd.2015.08.011 |
0.716 |
|
| 2015 |
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. Molecular Genetics and Metabolism. 115: 91-4. PMID 25956449 DOI: 10.1016/J.Ymgme.2015.04.008 |
0.32 |
|
| 2015 |
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. American Journal of Medical Genetics. Part A. 167: 2162-7. PMID 25943046 DOI: 10.1002/Ajmg.A.37144 |
0.381 |
|
| 2015 |
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. Journal of Inherited Metabolic Disease. PMID 25875217 DOI: 10.1007/S10545-015-9843-7 |
0.311 |
|
| 2015 |
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. International Journal of Molecular Sciences. 16: 7627-43. PMID 25853262 DOI: 10.3390/Ijms16047627 |
0.779 |
|
| 2015 |
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. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/Jc.2014-4215 |
0.353 |
|
| 2015 |
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. European Journal of Human Genetics : Ejhg. 23: 781-9. PMID 25271084 DOI: 10.1038/Ejhg.2014.200 |
0.766 |
|
| 2015 |
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. Journal of Autism and Developmental Disorders. 45: 100-10. PMID 25059483 DOI: 10.1007/S10803-014-2197-4 |
0.357 |
|
| 2014 |
Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Molecular Cytogenetics. 7: 80. PMID 25426169 DOI: 10.1186/S13039-014-0080-9 |
0.76 |
|
| 2014 |
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. Molecular Genetics and Metabolism Reports. 1: 176-183. PMID 25419514 DOI: 10.1016/J.Ymgmr.2014.03.004 |
0.38 |
|
| 2014 |
Alaimo JT, Hahn NC, Hahn NH, Mullegama SV, Elsea SH. Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. Plos One. 9: e105077. PMID 25127133 DOI: 10.1371/Journal.Pone.0105077 |
0.725 |
|
| 2014 |
Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for prenatal diagnosis of citrullinemia. Molecular Genetics and Metabolism. 112: 205-9. PMID 24889030 DOI: 10.1016/J.Ymgme.2014.05.004 |
0.33 |
|
| 2014 |
Tahir R, Kennedy A, Elsea SH, Dickinson AJ. Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. Mechanisms of Development. 133: 91-104. PMID 24878353 DOI: 10.1016/J.Mod.2014.05.004 |
0.353 |
|
| 2014 |
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. Biology Open. 3: 342-52. PMID 24705017 DOI: 10.1242/Bio.20147559 |
0.669 |
|
| 2014 |
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, ... ... Elsea SH, et al. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics : Ejhg. 22: 57-63. PMID 23632792 DOI: 10.1038/Ejhg.2013.67 |
0.786 |
|
| 2014 |
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, ... ... Elsea SH, et al. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Molecular Psychiatry. 19: 368-79. PMID 23587880 DOI: 10.1038/Mp.2013.42 |
0.762 |
|
| 2013 |
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. Disease Markers. 35: 589-94. PMID 24288428 DOI: 10.1155/2013/704917 |
0.363 |
|
| 2012 |
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, ... ... Elsea SH, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/J.Ajhg.2012.05.005 |
0.475 |
|
| 2012 |
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. American Journal of Medical Genetics. Part A. 158: 2015-20. PMID 22753018 DOI: 10.1002/Ajmg.A.35463 |
0.45 |
|
| 2012 |
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 Genetics. 8: e1002713. PMID 22654670 DOI: 10.1371/Journal.Pgen.1002713 |
0.672 |
|
| 2012 |
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. American Journal of Human Genetics. 90: 941-9. PMID 22578325 DOI: 10.1016/J.Ajhg.2012.04.013 |
0.775 |
|
| 2012 |
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. European Journal of Human Genetics : Ejhg. 20: 398-403. PMID 22085900 DOI: 10.1038/Ejhg.2011.199 |
0.755 |
|
| 2011 |
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, ... ... Elsea SH, et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89: 551-63. PMID 21981781 DOI: 10.1016/J.Ajhg.2011.09.011 |
0.764 |
|
| 2011 |
Elsea SH, Williams SR. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Reviews in Molecular Medicine. 13: e14. PMID 21545756 DOI: 10.1017/S1462399411001827 |
0.662 |
|
| 2010 |
Truong HT, Dudding T, Blanchard CL, Elsea SH. Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. Bmc Medical Genetics. 11: 142. PMID 20932317 DOI: 10.1186/1471-2350-11-142 |
0.403 |
|
| 2010 |
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. American Journal of Human Genetics. 87: 219-28. PMID 20691407 DOI: 10.1016/J.Ajhg.2010.07.011 |
0.685 |
|
| 2010 |
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. Human Molecular Genetics. 19: 4026-42. PMID 20663924 DOI: 10.1093/Hmg/Ddq317 |
0.72 |
|
| 2010 |
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. European Journal of Human Genetics : Ejhg. 18: 436-41. PMID 19904302 DOI: 10.1038/Ejhg.2009.199 |
0.814 |
|
| 2010 |
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. Journal of Medical Genetics. 47: 223-9. PMID 19752160 DOI: 10.1136/Jmg.2009.068072 |
0.77 |
|
| 2009 |
Girirajan S, Elsea SH. Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 20: 247-55. PMID 19319603 DOI: 10.1007/S00335-009-9180-Y |
0.657 |
|
| 2009 |
Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clinical Genetics. 75: 364-74. PMID 19236431 DOI: 10.1111/J.1399-0004.2008.01135.X |
0.684 |
|
| 2009 |
Girirajan S, Elsea SH. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. European Journal of Medical Genetics. 52: 224-8. PMID 19116176 DOI: 10.1016/J.Ejmg.2008.12.002 |
0.681 |
|
| 2008 |
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. Genetic Testing. 12: 67-73. PMID 18373405 DOI: 10.1089/Gte.2007.0058 |
0.822 |
|
| 2008 |
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. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 246-62. PMID 18343975 DOI: 10.1007/S00335-008-9100-6 |
0.76 |
|
| 2008 |
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. European Journal of Human Genetics : Ejhg. 16: 941-54. PMID 18285828 DOI: 10.1038/Ejhg.2008.21 |
0.812 |
|
| 2008 |
Elsea SH, Girirajan S. Smith-Magenis syndrome. European Journal of Human Genetics : Ejhg. 16: 412-21. PMID 18231123 DOI: 10.1038/Sj.Ejhg.5202009 |
0.713 |
|
| 2008 |
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 American Journal of Medical Genetics, Part A. 146: 636-643. PMID 17334992 DOI: 10.1002/Ajmg.A.31636 |
0.436 |
|
| 2007 |
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. Clinical Genetics. 72: 47-58. PMID 17594399 DOI: 10.1111/J.1399-0004.2007.00831.X |
0.703 |
|
| 2007 |
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. Clinical Genetics. 71: 540-50. PMID 17539903 DOI: 10.1111/J.1399-0004.2007.00815.X |
0.744 |
|
| 2007 |
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). American Journal of Medical Genetics. Part A. 143: 999-1008. PMID 17431895 DOI: 10.1002/Ajmg.A.31689 |
0.825 |
|
| 2007 |
Gropman AL, Elsea S, Duncan WC, Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Current Opinion in Neurology. 20: 125-34. PMID 17351481 DOI: 10.1097/Wco.0B013E3280895Dba |
0.371 |
|
| 2006 |
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. American Journal of Medical Genetics. Part A. 140: 2454-63. PMID 17041942 DOI: 10.1002/Ajmg.A.31510 |
0.7 |
|
| 2006 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 417-27. PMID 16845274 DOI: 10.1097/01.Gim.0000228215.32110.89 |
0.829 |
|
| 2005 |
Girirajan S, Elsea SH. Brachydactyly A1: new relatives for old families? Journal of Genetics. 84: 95-8. PMID 16131709 DOI: 10.1007/Bf02715835 |
0.546 |
|
| 2005 |
Barry E, Derhammer T, Elsea SH. Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genetics. 8: 173-9. PMID 16113534 DOI: 10.1159/000086760 |
0.301 |
|
| 2005 |
Girirajan S, Elsas LJ, Devriendt K, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. Journal of Medical Genetics. 42: 820-8. PMID 15788730 DOI: 10.1136/Jmg.2005.031211 |
0.716 |
|
| 2005 |
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. American Journal of Medical Genetics. Part A. 132: 278-82. PMID 15690371 DOI: 10.1002/Ajmg.A.30461 |
0.794 |
|
| 2003 |
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? Molecular Genetics and Metabolism. 79: 134-41. PMID 12809645 DOI: 10.1016/S1096-7192(03)00048-9 |
0.796 |
|
| 2003 |
Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genetics. 33: 466-8. PMID 12652298 DOI: 10.1038/Ng1126 |
0.816 |
|
| 2002 |
Smith ACM, Groptnan 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) Genetics in Medicine. 4: 118-125. PMID 12180145 DOI: 10.1097/00125817-200205000-00004 |
0.462 |
|
| 2002 |
Elsea SH, Lucas RE. The mousetrap: what we can learn when the mouse model does not mimic the human disease. Ilar Journal / National Research Council, Institute of Laboratory Animal Resources. 43: 66-79. PMID 11917158 DOI: 10.1093/Ilar.43.2.66 |
0.367 |
|
| 2001 |
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. European Journal of Human Genetics : Ejhg. 9: 892-902. PMID 11840190 DOI: 10.1038/Sj.Ejhg.5200734 |
0.804 |
|
| 2001 |
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. 30: 38-47. PMID 11107174 DOI: 10.1002/1098-2264(2000)9999:9999<::Aid-Gcc1052>3.0.Co;2-S |
0.357 |
|
| 2000 |
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. Cytogenetics and Cell Genetics. 88: 283-5. PMID 10828610 DOI: 10.1159/000015539 |
0.786 |
|
| 2000 |
Elsea SH, Leykam V. HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers Blood. 95: 2453-2455. DOI: 10.1182/Blood.V95.7.2453.007A43B_2453_2455 |
0.329 |
|
| 1999 |
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 American Journal of Medical Genetics. 87: 342-348. PMID 10588842 DOI: 10.1002/(Sici)1096-8628(19991203)87:4<342::Aid-Ajmg12>3.0.Co;2-A |
0.795 |
|
| 1999 |
Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI. Assignment of β-centractin (CTRN2) to human chromosome 2 bands q11.1→q11.2 with somatic cell hybrids and in situ hybridization Cytogenetics and Cell Genetics. 84: 48-49. PMID 10343100 DOI: 10.1159/000015211 |
0.559 |
|
| 1999 |
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. The Journal of Biological Chemistry. 273: 33540-7. PMID 9837935 DOI: 10.1074/Jbc.273.50.33540 |
0.579 |
|
| 1998 |
Sun D, Elsea SH, Patel PI, Funk CD. Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenetics and Cell Genetics. 81: 79-82. PMID 9691181 DOI: 10.1159/000014993 |
0.595 |
|
| 1998 |
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. American Journal of Medical Genetics. 75: 104-8. PMID 9450867 DOI: 10.1002/(Sici)1096-8628(19980106)75:1<104::Aid-Ajmg21>3.0.Co;2-P |
0.636 |
|
| 1997 |
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. Cytogenetics and Cell Genetics. 79: 276-81. PMID 9605871 DOI: 10.1159/000134742 |
0.684 |
|
| 1997 |
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. 36: 2919-2924. PMID 9062121 DOI: 10.1021/bi962488f |
0.419 |
|
| 1995 |
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 Journal of Biological Chemistry. 270: 1913-1920. PMID 7829529 DOI: 10.1074/Jbc.270.4.1913 |
0.502 |
|
| 1995 |
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 Journal of Biological Chemistry. 270: 20359-20364. PMID 7657608 DOI: 10.1074/Jbc.270.35.20359 |
0.52 |
|
| 1995 |
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 Journal of Biological Chemistry. 270: 28018-28021. PMID 7499285 DOI: 10.1074/jbc.270.47.28018 |
0.429 |
|
| 1994 |
Osheroff N, Corbett AH, Elsea SH, Westergaard M. Defining functional drug-interaction domains on topoisomerase II by exploiting mechanistic differences between drug classes Cancer Chemotherapy and Pharmacology. 34. PMID 8070023 DOI: 10.1007/Bf00684859 |
0.481 |
|
| 1993 |
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. Antimicrobial Agents and Chemotherapy. 37: 2179-86. PMID 8257142 DOI: 10.1128/Aac.37.10.2179 |
0.486 |
|
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