ISABELLA HERMAN

TitleVisiting Assistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6621 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. 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, 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 Oct 07; 108(10):1981-2005. PMID: 34582790.
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    2. 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 Sep 15. PMID: 34524739.
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    3. 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 Aug 12. PMID: 34385670.
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    4. Herman I, Calame DG. Clinical and Neuroimaging Features of Peroxisomal Disorders. Neuropediatrics. 2021 Jul 23. PMID: 34298577.
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    5. 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.
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    6. Herman I, Karakas C, Webber TA, Kralik SF, Takacs DS, Fisher KS, Edmondson EA, Riviello JJ, Clark GD, Pehlivan D. Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis. Pediatr Neurol. 2021 Aug; 121:20-25. PMID: 34126318.
      Citations:    Fields:    
    7. Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. PMID: 33847017.
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    8. 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, 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.
      Citations: 1     Fields:    
    9. 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.
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    10. Lyons-Warren AM, Herman I, Hunt PJ, Arenkiel BR. A systematic-review of olfactory deficits in neurodevelopmental disorders: From mouse to human. Neurosci Biobehav Rev. 2021 06; 125:110-121. PMID: 33610612.
      Citations:    Fields:    Translation:HumansAnimals
    11. 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.
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    12. 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.
      Citations: 1     
    13. 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: 1     Fields:    Translation:Humans
    14. McClard CK, Kochukov MY, Herman I, Liu Z, Eblimit A, Moayedi Y, Ortiz-Guzman J, Colchado D, Pekarek B, Panneerselvam S, Mardon G, Arenkiel BR. POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain. J Neurosci. 2018 02 07; 38(6):1443-1461. PMID: 29305536.
      Citations: 4     Fields:    Translation:AnimalsCells
    15. Quast KB, Ung K, Froudarakis E, Huang L, Herman I, Addison AP, Ortiz-Guzman J, Cordiner K, Saggau P, Tolias AS, Arenkiel BR. Developmental broadening of inhibitory sensory maps. Nat Neurosci. 2017 02; 20(2):189-199. PMID: 28024159.
      Citations: 18     Fields:    Translation:AnimalsCells
    16. Herman AM, Ortiz-Guzman J, Kochukov M, Herman I, Quast KB, Patel JM, Tepe B, Carlson JC, Ung K, Selever J, Tong Q, Arenkiel BR. A cholinergic basal forebrain feeding circuit modulates appetite suppression. Nature. 2016 Oct 13; 538(7624):253-256. PMID: 27698417.
      Citations: 31     Fields:    Translation:AnimalsCells
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