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Hilary J. Vernon, Ph.D. - Publications

Affiliations: 
2004 Rutgers University, New Brunswick, New Brunswick, NJ, United States 
Area:
Molecular Biology, Pathology
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27 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, ... ... Vernon HJ, et al. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. American Journal of Human Genetics. PMID 32553196 DOI: 10.1016/J.Ajhg.2020.05.017  0.328
2020 A Almuqbil M, Vernon HJ, Ferguson M, Kline AD. -associated mitochondrial disease: A case report of a patient with prolonged survival and literature review. Molecular Genetics and Metabolism Reports. 24: 100613. PMID 32514400 DOI: 10.1016/J.Ymgmr.2020.100613  0.355
2019 Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, et al. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). American Journal of Medical Genetics. Part A. PMID 31782611 DOI: 10.1002/Ajmg.A.61380  0.371
2019 Pavuluri K, Manoli I, Pass A, Li Y, Vernon HJ, Venditti CP, McMahon MT. Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. Science Advances. 5: eaaw8357. PMID 31453331 DOI: 10.1126/Sciadv.Aaw8357  0.312
2019 Anzmann AF, Pinto S, Busa V, Carlson J, McRitchie S, Sumner S, Pandey A, Vernon HJ. Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165538. PMID 31449969 DOI: 10.1016/J.Bbadis.2019.165538  0.347
2019 Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Expansion of the clinical spectrum associated with AARS2-related disorders. American Journal of Medical Genetics. Part A. PMID 31099476 DOI: 10.1002/Ajmg.A.61188  0.356
2019 Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics. Part A. PMID 30941876 DOI: 10.1002/Ajmg.A.61118  0.346
2019 Hornby B, McClellan R, Buckley L, Carson K, Gooding T, Vernon HJ. Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome. Orphanet Journal of Rare Diseases. 14: 37. PMID 30744648 DOI: 10.1186/S13023-019-1006-8  0.32
2018 Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, ... ... Vernon HJ, et al. FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. Jci Insight. 3. PMID 30518688 DOI: 10.1172/Jci.Insight.124351  0.368
2018 Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. Molecular Genetics and Metabolism. PMID 29789193 DOI: 10.1016/J.Ymgme.2018.05.001  0.369
2018 Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Radiographics : a Review Publication of the Radiological Society of North America, Inc. 38: 912-931. PMID 29757724 DOI: 10.1148/Rg.2018170042  0.366
2018 Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, ... ... Vernon HJ, et al. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics. Part A. PMID 29436146 DOI: 10.1002/Ajmg.A.38630  0.371
2018 Vernon H, Cohen J, De Nittis P, Fatemi A, McClellan R, Goldstein A, Malerba N, Guex N, Reymond A, Merla G. Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. Clinical Genetics. PMID 29368331 DOI: 10.1111/Cge.13194  0.327
2017 Kuszak AJ, Espey MG, Falk MJ, Holmbeck MA, Manfredi G, Shadel GS, Vernon HJ, Zolkipli-Cunningham Z. Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annual Review of Pathology. PMID 29099651 DOI: 10.1146/Annurev-Pathol-020117-043644  0.343
2017 Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong LJ, Chrzanowska-Lightowlers Z, Safro M. Kinetic and Structural Changes in HsmtPheRS, Induced by Pathogenic Mutations in Human FARS2. Protein Science : a Publication of the Protein Society. PMID 28419689 DOI: 10.1002/Pro.3176  0.326
2016 Benjamin JS, Pilarowski GO, Carosso GA, Zhang L, Huso DL, Goff LA, Vernon HJ, Hansen KD, Bjornsson HT. A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome. Proceedings of the National Academy of Sciences of the United States of America. PMID 27999180 DOI: 10.1073/Pnas.1611431114  0.319
2016 Sandlers Y, Mercier K, Pathmasiri W, Carlson J, McRitchie S, Sumner S, Vernon HJ. Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. Plos One. 11: e0151802. PMID 27015085 DOI: 10.1371/Journal.Pone.0151802  0.367
2016 Thompson WR, DeCroes B, McClellan R, Rubens J, Vaz FM, Kristaponis K, Avramopoulos D, Vernon HJ. New targets for monitoring and therapy in Barth syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26845103 DOI: 10.1038/Gim.2015.204  0.385
2016 Vernon HJ. Finding Treatments for Genetic Metabolic Disease Current Pediatrics Reports. 4: 173-177. DOI: 10.1007/S40124-016-0113-4  0.342
2015 DeSanto C, D'Aco K, Araujo GC, Shannon N, Study D, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, et al. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Journal of Medical Genetics. PMID 26264232 DOI: 10.1136/Jmedgenet-2015-103069  0.358
2015 Vernon HJ. Inborn Errors of Metabolism: Advances in Diagnosis and Therapy. Jama Pediatrics. 169: 778-82. PMID 26075348 DOI: 10.1001/Jamapediatrics.2015.0754  0.364
2015 Vernon HJ, McClellan R, Batista DA, Naidu S. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. American Journal of Medical Genetics. Part A. 167: 1147-51. PMID 25851414 DOI: 10.1002/Ajmg.A.36993  0.369
2015 Tarasenko TN, Rosas OR, Singh LN, Kristaponis K, Vernon H, McGuire PJ. A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. Plos One. 10: e0116594. PMID 25647322 DOI: 10.1371/Journal.Pone.0116594  0.336
2014 Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Annals of Neurology. 76: 473-83. PMID 25131622 DOI: 10.1002/Ana.24251  0.324
2014 Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical laboratory studies in Barth Syndrome. Molecular Genetics and Metabolism. 112: 143-7. PMID 24751896 DOI: 10.1016/J.Ymgme.2014.03.007  0.372
2012 Vernon H. Update on the treatment of phenylketonuria: long-term safety and efficacy of sapropterin dihydrochloride Research and Reports in Endocrine Disorders. 2: 11-17. DOI: 10.2147/Rred.S24770  0.318
2005 Vernon HJ, Osborne C, Tzortzaki EG, Yang M, Chen J, Rittling SR, Denhardt DT, Buyske S, Bledsoe SB, Evan AP, Fairbanks L, Simmonds HA, Tischfield JA, Sahota A. Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity. Kidney International. 68: 938-47. PMID 16105024 DOI: 10.1111/J.1523-1755.2005.00487.X  0.508
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