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AMANDA GERARD

TitleInstructor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
Houston, TX 77030
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    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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    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. Gerard A, Mizerik E, Mohila CA, AlAwami S, Hunter JV, Kearney DL, Lalani SR, Scaglia F. Intracranial calcifications simulating Aicardi-Gouti?res syndrome in PARS2-related mitochondrial disease. Am J Med Genet A. 2024 Mar 12; e63589. PMID: 38469956.
      Citations:    Fields:    
    2. Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nat Commun. 2024 Jan 08; 15(1):365. PMID: 38191484; PMCID: PMC10774338.
      Citations:    Fields:    Translation:HumansAnimalsCells
    3. Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, ?stergaard E, Nazaryan-Petersen L, Undiagnosed Diseases Network, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabe de Angelis M, H?lter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413. PMID: 37467750; PMCID: PMC10432148.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    4. Streff H, Uhles CL, Fisher H, Franciskovich R, Littlejohn RO, Gerard A, Hudnall J, Smith HS. Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350. PMID: 36547467.
      Citations: 1     Fields:    Translation:Humans
    5. Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Rustad CF, Neas K, Ferrero GB, Brusco A, Wellesley D, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Di Gregorio E, Beneteau C, Joubert M. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 10; 188(10):2958-2968. PMID: 35904974; PMCID: PMC9474674.
      Citations:    Fields:    
    6. Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 09; 188(9):2718-2723. PMID: 35796094; PMCID: PMC9378577.
      Citations:    Fields:    
    7. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Sabatier I, Brownstein CA, Madden JA, Agrawal PB, Brugger M, Leiz S, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Pavinato L, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S, Fehr S, Lesca G, Chatron N, Keren B, Courtin T, Perrin L, Roser T, Mau-Them FT, Keller R, Brusco A. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. PMID: 35294868; PMCID: PMC8983390.
      Citations: 2     Fields:    Translation:HumansAnimals
    8. Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Ciliberto M, Cohen JS, Comi AM, Curry C, Emrick L, Fasano MB, Finkel RS, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Mintz CS, Mullegama SV, Oppermann H, Ostergaard E, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Undiagnosed Diseases Network, Xie Y, Chung WK, Brown NJ, Campos-Xavier B, Damaj L, Denomm?-Pichon AS, Faivre L, Fi?vet A, Garc?a-Mi?a?r S, Marcos-Alcalde I, M?ller RS, Odent S, Pacio-M?guez M, Rio M, Sousa SB, W?ber M, T?mer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282. PMID: 34859529.
      Citations:    Fields:    Translation:Humans
    9. Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 07; 6(1):104. PMID: 34876591; PMCID: PMC8651650.
      Citations:    
    10. Hurst A, Bader I, Rudy NL, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Strong A, Diderich KEM, Stankiewicz P, Isidor B, Ebstein F, Vincent M, Cogne B, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Brice?o I, G?mez A, Deb W, Conrad S, Besnard T, B?zieau S, Kr?ger E, K?ry S. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet Med. 2022 01; 24(1):179-191. PMID: 34906456.
      Citations: 2     Fields:    Translation:Humans
    11. Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 05; 185(5):1388-1398. PMID: 33576134.
      Citations:    Fields:    Translation:HumansCells
    12. Smith HS, Franciskovich R, Lewis AM, Gerard A, Littlejohn RO, Nugent K, Rodriguez J, Streff H. Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955. PMID: 33473204.
      Citations: 2     Fields:    Translation:Humans
    13. Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Wadley A, Wierenga KJ, Nizon M, Laugel V, Pichon O, Le Caignec C, G?rard M, Dieterich K, B?zieau S, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 11; 21(11):2663. PMID: 31267042.
      Citations:    Fields:    
    14. Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Wadley A, Wierenga KJ, Nizon M, Laugel V, Pichon O, Le Caignec C, G?rard M, Dieterich K, B?zieau S, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 12; 21(12):2713-2722. PMID: 31155615; PMCID: PMC7243155.
      Citations: 9     Fields:    Translation:Humans
    15. Shashi V, Magiera MM, Zaki M, Schoch K, Norman A, Lopes Abath Neto O, Dusl M, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB, Undiagnosed Diseases Network, Schoser B, Alfadhel M, Capra V, Chrast R, Kamsteeg EJ, Gleeson JG, Janke C, Senderek J, Klein D, Rudnik-Sch?neborn S, Yuan X, Guzm?n-Vega FJ, Nava C, Mignot C, Keren B, R?sler KM, Strom TM, B?nnemann CG, Martini R. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 12 03; 37(23). PMID: 30420557; PMCID: PMC6276871.
      Citations: 30     Fields:    Translation:HumansCells
    16. Gerard A, Noblin S, Hashmi SS, Bean AJ, Bergstrom K, Hurst CB, Mattox W, Stevens B. Undergraduate Student Perceptions and Awareness of Genetic Counseling. J Genet Couns. 2018 Aug 19. PMID: 30121717.
      Citations:    Fields:    
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