Hadia Hijazi

TitleGraduate Student
InstitutionBaylor College of Medicine
DepartmentGenetics & Genomics
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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. Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80. PMID: 31818324.
      Citations: 8     Fields:    Translation:Humans
    2. Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. PMID: 31448840.
      Citations: 3     Fields:    Translation:HumansCells
    3. Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015. PMID: 31630790.
      Citations: 8     Fields:    Translation:HumansCells
    4. Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067. PMID: 31042289.
      Citations: 17     Fields:    Translation:Humans
    5. Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25. PMID: 31014393.
      Citations: 7     Fields:    Translation:HumansCells
    6. Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA. Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc. 2018 Oct 01; 2(10):1100-1108. PMID: 30525125.
      Citations: 2     
    7. Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol. 2015 Nov 05; 16:240. PMID: 26537248.
      Citations: 62     Fields:    Translation:HumansAnimalsCells
    8. Abumansour IS, Hijazi H, Alazmi A, Alzahrani F, Bashiri FA, Hassan H, Alhaddab M, Alkuraya FS. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015 Aug; 134(8):815-22. PMID: 25957586.
      Citations: 5     Fields:    Translation:Humans
    9. Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015 Jun; 52(6):400-4. PMID: 25748484.
      Citations: 25     Fields:    Translation:Humans
    10. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13; 10(2):148-61. PMID: 25558065.
      Citations: 168     Fields:    Translation:Humans
    11. Alazami AM, Hijazi H, Kentab AY, Alkuraya FS. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J Med Genet. 2014 Apr; 51(4):224-8. PMID: 24399846.
      Citations: 13     Fields:    Translation:HumansAnimals
    12. Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013 Aug 08; 93(2):313-20. PMID: 23830514.
      Citations: 38     Fields:    Translation:HumansAnimals
    13. Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype. Ophthalmic Genet. 2014 Sep; 35(3):187-9. PMID: 23767995.
      Citations: 2     Fields:    Translation:Humans
    14. Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet. 2013 Jul; 50(7):425-30. PMID: 23620220.
      Citations: 51     Fields:    Translation:HumansCells
    15. Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. J AAPOS. 2012 Dec; 16(6):571-2. PMID: 23158549.
      Citations: 2     Fields:    Translation:Humans
    16. Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med. 2012 Dec; 14(12):955-62. PMID: 22935719.
      Citations: 31     Fields:    Translation:Humans
    17. Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS. Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat. 2012 Oct; 33(10):1423-8. PMID: 22693042.
      Citations: 27     Fields:    Translation:Humans
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