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DANIEL CALAME

TitleInstructor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address6701 FANNIN
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    Collapse Bibliographic 
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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. Runco AD, Levine JM, Trandafir C, Foroozan R, Parnes M, Calame DG. Opsoclonus in Alternating Hemiplegia of Childhood Secondary to ATP1A3 p.Gly803Arg. Mov Disord Clin Pract. 2024 Nov 14. PMID: 39540674.
      Citations:    Fields:    
    2. Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ?L, Busk ?L, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581. PMID: 39471804; PMCID: PMC11568760.
      Citations:    Fields:    Translation:HumansAnimals
    3. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN, Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Bahreini A, Karimiani EG, Begtrup A, Elloumi H, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Maroofian R, Lupski JR, Nguyen LN. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2024 Sep 19; 101273. PMID: 39306721.
      Citations:    Fields:    
    4. Dardas Z, Marafi D, Duan R, Fatih JM, El-Rashidy OF, Grochowski CM, Carvalho CMB, Jhangiani SN, Bi W, Du H, Gibbs RA, Posey JE, Calame DG, Zaki MS, Lupski JR. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2024 Sep 10. PMID: 39256534.
      Citations: 1     Fields:    
    5. Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL, Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Bamshad MJ, Rehm HL. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199. PMID: 38944749; PMCID: PMC11456385.
      Citations: 1     Fields:    Translation:Humans
    6. Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Bamshad MJ, Rehm HL. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv. 2024 Jun 21. PMID: 38370830; PMCID: PMC10871197.
      Citations:    
    7. Deb W, Rosenfelt C, Vignard V, Papendorf JJ, M?ller S, Wendlandt M, Studencka-Turski M, Cogn? B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katr?nard?ttir H, Fri?riksd?ttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, B?zieau S, Kr?ger E, K?ry S, Ebstein F. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369. PMID: 38866022; PMCID: PMC11267520.
      Citations:    Fields:    Translation:HumansAnimals
    8. Immanneni C, Calame D, Jiao S, Emrick LT, Holmgren M, Yano ST. ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever. Neurol Genet. 2024 Jun; 10(3):e200150. PMID: 38685976; PMCID: PMC11057438.
      Citations:    
    9. Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galv?n NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ, Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galv?n NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125. PMID: 38522068; PMCID: PMC11335040.
      Citations:    Fields:    Translation:HumansAnimals
    10. Calame DG. Optimizing genetic testing strategies for congenital anomalies in Iran. Eur J Hum Genet. 2024 Oct; 32(10):1204-1205. PMID: 38448559; PMCID: PMC11500169.
      Citations: 1     Fields:    
    11. Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, El?ioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18. PMID: 38153174; PMCID: PMC10899794.
      Citations: 1     Fields:    Translation:Humans
    12. Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Jhangiani S, Bi W, Du H, Gibbs R, Lupski J, Carvalho C, Posey J, Calame D, Zaki M. Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Res Sq. 2024 Feb 19. PMID: 38464263; PMCID: PMC10925411.
      Citations:    
    13. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13. PMID: 38405817; PMCID: PMC10888986.
      Citations:    
    14. Undiagnosed Diseases Network, Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfu? S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. PMID: 38352438; PMCID: PMC10863025.
      Citations:    
    15. Calame DG, Emrick LT. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders. Neurotherapeutics. 2024 Jan; 21(1):e00316. PMID: 38244259; PMCID: PMC10903096.
      Citations: 1     Fields:    Translation:HumansCells
    16. Zamani M, Vona B, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Akhondian J, Babaei M, Hashemi N, Setzke J, Galehdari H, Maroofian R, Kaiyrzhanov R, Liebmann L, Karimiani EG, Huebner AK, Calame DG, Misra VK, Toosi MB, Schnur RE, Suri M, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Severino M, Houlden H, H?bner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. PMID: 38054405; PMCID: PMC11157690.
      Citations: 1     Fields:    Translation:HumansAnimals
    17. Duan R, Marafi D, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Houlden H, Lupashin VV, Zaki MS, Lupski JR, Xia ZJ, Ng BG, Posey JE, Freeze HH. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205. PMID: 37711075; PMCID: PMC10873070.
      Citations: 1     Fields:    Translation:HumansCells
    18. Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Fr?nois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803. PMID: 37751738; PMCID: PMC10577083.
      Citations:    Fields:    
    19. Moreno Vadillo C, Berger S, Torres RJ, Prior C, G?mez-Gonz?lez C, Holmgren M, Regier D, Calame DG, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Biskup S, Lupski JR, Maric D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171. PMID: 37043503; PMCID: PMC10393399.
      Citations:    Fields:    Translation:Humans
    20. 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
    21. Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 08; 31(8):905-917. PMID: 37188825; PMCID: PMC10400545.
      Citations:    Fields:    Translation:HumansCells
    22. Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349. PMID: 37157980; PMCID: PMC10524748.
      Citations:    Fields:    Translation:Humans
    23. Boschann F, Le Guyader G, Nordenskj?ld M, Nordgren A, Anderlid BM, Stoltenburg C, Horn D, Drenckhahn A, Lefebvre M, Attie-Bitach T, Forey P, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Caron V, Chassaing N, Ragge N, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Plaisanci? J, Hamdan FF, Smirnov V, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Genevi?ve D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P, DDD Study, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. PMID: 37092537; PMCID: PMC10757562.
      Citations:    Fields:    Translation:Humans
    24. Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808. PMID: 37071997; PMCID: PMC10183470.
      Citations:    Fields:    Translation:HumansAnimals
    25. Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y, Undiagnosed Diseases Network, Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680. PMID: 36965478; PMCID: PMC10119142.
      Citations:    Fields:    Translation:HumansCells
    26. Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Bl?mlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 Mar 02; 110(3):548. PMID: 36868207; PMCID: PMC10027494.
      Citations:    Fields:    
    27. Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Bl?mlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 01 05; 110(1):120-145. PMID: 36528028; PMCID: PMC9892767.
      Citations: 2     Fields:    Translation:HumansAnimals
    28. Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Cl?ment P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Manti F, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM, Torella A, Nigro V. Biallelic variants in HECT E3 paralogs, HECTD4 and?UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 02; 25(2):100323. PMID: 36401616.
      Citations:    Fields:    Translation:Humans
    29. Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. PMID: 36228617; PMCID: PMC10585591.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    30. Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723. PMID: 35948005; PMCID: PMC9502070.
      Citations:    
    31. Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40. PMID: 35231119.
      Citations:    Fields:    Translation:Humans
    32. Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR, Tajsharghi H, Travaglini L, Nicita F. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321. PMID: 35471564; PMCID: PMC10054521.
      Citations:    Fields:    Translation:Humans
    33. Brown GJ, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG, Ca?ete PF, L?pez CA, G?nzalez-Murillo ?, Garulo DC, de Lucas Collantes C. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 05; 605(7909):349-356. PMID: 35477763; PMCID: PMC9095492.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    34. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110. PMID: 35637064; PMCID: PMC9893913.
      Citations:    Fields:    Translation:HumansAnimals
    35. Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540. PMID: 35322404; PMCID: PMC9359317.
      Citations:    Fields:    Translation:Humans
    36. Tasdelen E, Calame DG, Akay G, Mitani T, Fatih JM, Herman I, Du H, Coban-Akdemir Z, Marafi D, Jhangiani SN, Posey JE, Gibbs RA, Altiparmak T, Lupski JR, Pehlivan D, Kutlay NY. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161. PMID: 35332675; PMCID: PMC9197852.
      Citations:    Fields:    Translation:Humans
    37. Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750. PMID: 34816580; PMCID: PMC8837671.
      Citations: 1     Fields:    Translation:HumansAnimals
    38. Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005. PMID: 34582790; PMCID: PMC8546040.
      Citations: 2     Fields:    Translation:Humans
    39. Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058. PMID: 34524739; PMCID: PMC8528454.
      Citations:    Fields:    Translation:Humans
    40. Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460. PMID: 34385670; PMCID: PMC8633036.
      Citations: 1     Fields:    Translation:HumansCells
    41. Herman I, Calame DG. Clinical and Neuroimaging Features of Peroxisomal Disorders. Neuropediatrics. 2022 02; 53(1):75-77. PMID: 34298577.
      Citations:    Fields:    Translation:Humans
    42. Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, Coban-Akdemir Z, Milewicz DM, Gibbs RA, Posey JE, Marafi D, Hunter JV, Fan Y, Lupski JR, Miyake CY. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540. PMID: 34089229; PMCID: PMC8382094.
      Citations: 1     Fields:    Translation:Humans
    43. Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE, SYNAPS Study Group, Maqbool S, Lupski JR, Houlden H. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249. PMID: 33964184; PMCID: PMC8436746.
      Citations: 2     Fields:    Translation:Humans
    44. Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. Neurol Genet. 2021 Jun; 7(3):e589. PMID: 33977145; PMCID: PMC8105884.
      Citations: 4     
    45. Calame DG, Herman I, Bartlett B, Agurs L, Tran BH, Houck K. Apneic Seizures in a Child with Achondroplasia. Neuropediatrics. 2021 10; 52(5):415-416. PMID: 33578437.
      Citations:    Fields:    Translation:Humans
    46. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, High FA, Armstrong-Javors A, Kamel WA, Al-Hashel JY, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y, Joset P, Steindl K, Rauch A, Hackenberg A, Mencacci NE, Gonz?lez-Latapi P, Bustos BI. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833. PMID: 33443317.
      Citations: 3     Fields:    Translation:HumansCells
    47. Calame DG, Houck K, Lotze T, Emrick L, Parnes M. A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. Eur J Paediatr Neurol. 2021 Mar; 31:21-26. PMID: 33578253.
      Citations:    Fields:    Translation:Humans
    48. Calame DG, Herman I, Riviello JJ. A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus. Epilepsy Behav Rep. 2021; 15:100425. PMID: 33554103; PMCID: PMC7844124.
      Citations: 3     
    49. Calame DG, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT. EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. Neurol Genet. 2021 Feb; 7(1):e539. PMID: 33553620; PMCID: PMC7862097.
      Citations: 1     
    50. Herman I, Lopez MA, Marafi D, Pehlivan D, Calame DG, Abid F, Lotze TE. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310. PMID: 33146414.
      Citations: 5     Fields:    Translation:Humans
    51. Moran EJ, Lapin WB, Calame D, Bray M, Wright LN, Desai NK, Stein F, Marcus M. Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. Ann Diagn Pathol. 2020 Aug; 47:151545. PMID: 32505971.
      Citations:    Fields:    Translation:Humans
    52. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    53. Dong X, Tan NB, Howell KB, Freeman JL, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Christodoulou J, White SM, Barresi S, Vecchio D, Piccione M, Radio FC, Tartaglia M. Bi-allelic LoF NRROS Variants Impairing Active TGF-?1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 04 02; 106(4):559-569. PMID: 32197075; PMCID: PMC7118692.
      Citations: 7     Fields:    Translation:HumansCells
    54. Mueller-Ortiz SL, Calame DG, Shenoi N, Li YD, Wetsel RA. The Complement Anaphylatoxins C5a and C3a Suppress IFN-? Production in Response to Listeria monocytogenes by Inhibition of the Cyclic Dinucleotide-Activated Cytosolic Surveillance Pathway. J Immunol. 2017 04 15; 198(8):3237-3244. PMID: 28275134; PMCID: PMC5398560.
      Citations: 7     Fields:    Translation:AnimalsCells
    55. Calame DG, Mueller-Ortiz SL, Wetsel RA. Innate and adaptive immunologic functions of complement in the host response to Listeria monocytogenes infection. Immunobiology. 2016 12; 221(12):1407-1417. PMID: 27476791; PMCID: PMC5345573.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    56. Calame DG, Mueller-Ortiz SL, Morales JE, Wetsel RA. The C5a anaphylatoxin receptor (C5aR1) protects against Listeria monocytogenes infection by inhibiting type 1 IFN expression. J Immunol. 2014 Nov 15; 193(10):5099-107. PMID: 25297874; PMCID: PMC4295506.
      Citations: 9     Fields:    Translation:AnimalsCells
    57. Wetsel RA, Wang D, Calame DG. Therapeutic potential of lung epithelial progenitor cells derived from embryonic and induced pluripotent stem cells. Annu Rev Med. 2011; 62:95-105. PMID: 21226612; PMCID: PMC4512655.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    58. Wang D, Morales JE, Calame DG, Alcorn JL, Wetsel RA. Transplantation of human embryonic stem cell-derived alveolar epithelial type II cells abrogates acute lung injury in mice. Mol Ther. 2010 Mar; 18(3):625-34. PMID: 20087316; PMCID: PMC2839438.
      Citations: 51     Fields:    Translation:HumansAnimalsCells
    59. Qiu L, Lai R, Lin Q, Lau E, Thomazy DM, Calame D, Ford RJ, Kwak LW, Kirken RA, Amin HM. Autocrine release of interleukin-9 promotes Jak3-dependent survival of ALK+ anaplastic large-cell lymphoma cells. Blood. 2006 Oct 01; 108(7):2407-15. PMID: 16763206; PMCID: PMC1895569.
      Citations: 43     Fields:    Translation:HumansAnimals
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