June-Anne Gold • UCI Profiles (original) (raw)

1. Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder. Genet Med. 2025 Nov; 27(11):101555. van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH. PMID: 40819229.
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   Translation:HumansAnimals
2. Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome. Am J Med Genet A. 2024 Oct; 194(10):e63724. Schmok T, Surampalli A, Khare M, Zandihaghighi S, Baghbaninogourani R, Patolia B, Gold JA, Naidu A, Cassidy SB, Kimonis VE. PMID: 38837660; PMCID: PMC12228350.
   View in: PubMed Mentions: 1 Fields:
   Translation:HumansCells
3. Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome. J Clin Med. 2022 May 04; 11(9). Mahmoud R, Swanson HD, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Osann K, Dykens E, Driscoll DJ, Kimonis V. PMID: 35566699; PMCID: PMC9104315.
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4. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37. Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. PMID: 34388423; PMCID: PMC8429141.
   View in: PubMed Mentions: 19 Fields:
   Translation:Humans
5. Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study. Clin Genet. 2021 07; 100(1):29-39. Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V. PMID: 33615449; PMCID: PMC8568051.
   View in: PubMed Mentions: 8 Fields:
   Translation:Humans
6. Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes (Basel). 2020 10 23; 11(11). Montes AS, Osann KE, Gold JA, Tamura RN, Driscoll DJ, Butler MG, Kimonis VE. PMID: 33114160; PMCID: PMC7690822.
   View in: PubMed Mentions: 6 Fields:
   Translation:Humans
7. Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. Am J Med Genet A. 2020 01; 182(1):169-175. Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE. PMID: 31782896.
   View in: PubMed Mentions: 6 Fields:
   Translation:HumansCells
8. Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. Genes (Basel). 2019 11 06; 10(11). Kimonis VE, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, Butler MG, Driscoll DJ. PMID: 31698873; PMCID: PMC6896038.
   View in: PubMed Mentions: 19 Fields:
   Translation:HumansCells
9. A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome. PLoS One. 2019; 14(9):e0221615. Kimonis V, Surampalli A, Wencel M, Gold JA, Cowen NM. PMID: 31545799; PMCID: PMC6756513.
   View in: PubMed Mentions: 23 Fields:
   Translation:HumansCTClinical Trials
10. Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index. Am J Med Genet A. 2019 09; 179(9):1826-1835. Butler MG, Matthews NA, Patel N, Surampalli A, Gold JA, Khare M, Thompson T, Cassidy SB, Kimonis VE. PMID: 31313492; PMCID: PMC7737232.
    View in: PubMed Mentions: 21 Fields:
    Translation:HumansCells
11. Birth seasonality studies in a large Prader-Willi syndrome cohort. Am J Med Genet A. 2019 08; 179(8):1531-1534. Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ. PMID: 31225937; PMCID: PMC7159461.
    View in: PubMed Mentions: 1 Fields:
    Translation:HumansCellsPHPublic Health
12. 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. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. PMID: 30909959; PMCID: PMC6434874.
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13. 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. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. PMID: 30819258; PMCID: PMC6393995.
    View in: PubMed Mentions: 28 Fields:
    Translation:Humans
14. Contributing factors of mortality in Prader-Willi syndrome. Am J Med Genet A. 2019 02; 179(2):196-205. Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JA. PMID: 30569567; PMCID: PMC6349475.
    View in: PubMed Mentions: 34 Fields:
    Translation:HumansCells
15. The importance of preconception and prenatal genetic evaluation in heart transplant individuals and fetal and postnatal cardiac monitoring in their offspring. Cardiol Young. 2018 Nov; 28(11):1356-1358. Liu Y, Bock MJ, Gold JA. PMID: 30021666.
    View in: PubMed Mentions: 3 Fields:
    Translation:Humans
16. Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. Neurology. 2018 07 17; 91(3):143-147. Liu Y, Michelson D, Clark R, Gold JA. PMID: 30012655.
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    Translation:Humans
17. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018 09; 55(9):594-598. Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V. PMID: 29776967; PMCID: PMC6107376.
    View in: PubMed Mentions: 12 Fields:
    Translation:Humans
18. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2019 03; 56(3):149-153. Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. PMID: 29730598; PMCID: PMC7387113.
    View in: PubMed Mentions: 99 Fields:
    Translation:HumansCells
19. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018 05; 176(5):1161-1165. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. PMID: 29681103; PMCID: PMC5918292.
    View in: PubMed Mentions: 11 Fields:
    Translation:HumansPHPublic Health
20. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. Am J Med Genet A. 2018 02; 176(2):368-375. Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ. PMID: 29271568; PMCID: PMC6065257.
    View in: PubMed Mentions: 32 Fields:
    Translation:Humans
21. A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. Clin Dysmorphol. 2017 Apr; 26(2):98-100. Jones M, Chung J, Kimonis V, Gold JA. PMID: 27442045.
    View in: PubMed Mentions: 3 Fields:
    Translation:Humans
22. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. Am J Med Genet A. 2017 May; 173(5):1243-1250. Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, Driscoll DJ. PMID: 28371242; PMCID: PMC5828021.
    View in: PubMed Mentions: 62 Fields:
    Translation:Humans
23. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). Cytogenet Genome Res. 2016; 150(1):29-34. Dang V, Surampalli A, Manzardo AM, Youn S, Butler MG, Gold JA, Kimonis VE. PMID: 27894106; PMCID: PMC5812461.
    View in: PubMed Mentions: 1 Fields:
    Translation:HumansCells
24. Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment. Clin Pediatr (Phila). 2016 09; 55(10):957-74. Butler MG, Lee J, Cox DM, Manzardo AM, Gold JA, Miller JL, Roof E, Dykens E, Kimonis V, Driscoll DJ. PMID: 26842920; PMCID: PMC5922433.
    View in: PubMed Mentions: 20 Fields:
    Translation:Humans
25. Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics. 2015 Jan; 135(1):e126-35. Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ. PMID: 25489013; PMCID: PMC4279067.
    View in: PubMed Mentions: 26 Fields:
    Translation:Humans
26. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2014 May; 27(5-6):511-8. Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE. PMID: 24515997.
    View in: PubMed Mentions: 12 Fields:
    Translation:Humans
27. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med. 2014 Feb; 16(2):164-9. Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE. PMID: 23928912; PMCID: PMC4164429.
    View in: PubMed Mentions: 11 Fields:
    Translation:HumansCells
28. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers. 2012 Mar; 16(3):178-86. Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG. PMID: 21977908; PMCID: PMC3306590.
    View in: PubMed Mentions: 26 Fields:
    Translation:HumansCells
29. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May; 155A(5):1040-9. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. PMID: 21465655; PMCID: PMC3285445.
    View in: PubMed Mentions: 204 Fields:
    Translation:Humans
30. Growth standards of infants with Prader-Willi syndrome. Pediatrics. 2011 Apr; 127(4):687-95. Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ. PMID: 21402637; PMCID: PMC3065075.
    View in: PubMed Mentions: 27 Fields:
    Translation:Humans
31. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet. 2009 Aug; 26(8):461-6. Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ. PMID: 19760168; PMCID: PMC2767487.
    View in: PubMed Mentions: 28 Fields:
    Translation:HumansCells
32. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett. 2011 Jan 07; 487(2):129-33. Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. PMID: 19563863; PMCID: PMC2888840.
    View in: PubMed Mentions: 39 Fields:
    Translation:AnimalsCells
33. Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Fam Cancer. 2008; 7(2):187-9. Ajith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV. PMID: 17874208.
    View in: PubMed Mentions: 11 Fields:
    Translation:Humans
34. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep; 14(3):150-61. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. PMID: 17980312.
    View in: PubMed Mentions: 57 Fields:
    Translation:Humans

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