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Naomi Jeanette Lohr Meeks

TitleAsst Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-2360

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Shelkowitz E, Chan CM, Jones T, Nakano SJ, Meeks NJL. A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy. Am J Med Genet A. 2022 Jul; 188(7):2147-2152. PMID: 35347857.
      View in: PubMed
    2. Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AKM, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Goddard KAB, Powell BC. ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genet Med. 2022 06; 24(6):1328-1335. PMID: 35341655.
      View in: PubMed
    3. Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Cinzia C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM, Balasubramanian M. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021 11; 185(11):3446-3458. PMID: 34436830.
      View in: PubMed
    4. Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 02 09; 217(2). PMID: 33724415.
      View in: PubMed
    5. Finn E, Kripps K, Chambers C, Rapp M, Meeks NJL, Xu F, Chen W, Larson AA, Nokoff NJ. A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia. J Investig Med High Impact Case Rep. 2021 Jan-Dec; 9:23247096211014685. PMID: 33966472.
      View in: PubMed
    6. Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 02; 23(2):384-395. PMID: 33173220.
      View in: PubMed
    7. Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. J Autism Dev Disord. 2019 May; 49(5):2184-2202. PMID: 30783897.
      View in: PubMed
    8. Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 03; 42(2):353-361. PMID: 30043187.
      View in: PubMed
    9. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 32475986.
      View in: PubMed
    10. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 32567802.
      View in: PubMed
    11. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 29304375.
      View in: PubMed
    12. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 33665635.
      View in: PubMed
    13. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 21839663.
      View in: PubMed
    14. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 32681751.
      View in: PubMed
    15. Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet. 2018 02 01; 102(2):309-320. PMID: 29394990.
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    16. Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 02; 101(5):716-724. PMID: 29100085.
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    17. Ahmad M, Hermanson ME, Enzenauer R, Palestine A, Lin C, Meeks N, McCourt E. Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. J AAPOS. 2017 Jun; 21(3):249-251. PMID: 28532706.
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    18. Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52. PMID: 27195816.
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    19. Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S. Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. Clin Genet. 2016 Apr; 89(4):478-483. PMID: 25693842.
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    20. Larson A, Nokoff NJ, Meeks NJ. Genetic causes of pituitary hormone deficiencies. Discov Med. 2015 Mar; 19(104):175-83. PMID: 25828521.
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    21. Bartnik M, Derwinska K, Gos M, Obersztyn E, Kolodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczynska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med. 2011 May; 13(5):447-52. PMID: 21293276.
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    22. Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 2010 Mar 12; 86(3):447-53. PMID: 20170897.
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    23. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr; 44(4):233-40. PMID: 17098888.
      View in: PubMed
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