IsabellaHermanMD

PubMed

• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
  Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie...> ;Brain. 2024 Apr 4
• A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis.
  Troy A Webber, Cemal Karakas, Isabella Herman, Stephen F Kralik, Danielle S Takacs, Saleh Bhar, Davut Pehlivan> ;Pediatric Neurology. 2024 Mar 26
• Biallelic variation in the choline and ethanolamine transporterunderlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
  Calame, D., Wong, J., Panda, P., Nguyen, D., Leong, N., Sangermano, R., Patankar, S., Abdel-Hamid, M., AlAbdi, L., Safwat, S., Flannery, K., Dardas, Z., Fatih, J., Mur...> ;Medrxiv. 2024 Feb 13
• 3 citations
  Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
  Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro M...> ;American Journal of Human Genetics. 2023 Aug 3
• 3 citations
  The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
  Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, S...> ;Brain. 2023 Aug 1
• 4 citations
  Implementation of a Pediatric Neurocritical Care Program for Children With Status Epilepticus: Adherence to Continuous Electroencephalogram Monitoring.
  Isabella Herman, Thao Nguyen, See Wai Chan, Jennifer Erklauer, James J Riviello, Yi-Chen Lai> ;Pediatric Critical Care Medicine. 2022 Dec 1
• 4 citations
  A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
  Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Ch...> ;American Journal of Human Genetics. 2022 Sep 1
• 3 citations
  Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
  Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jen...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 6 citations
  El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
  Mohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, Maha S Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, We...> ;Clinical Genetics. 2022 May 1
• 2 citations
  Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Sp...
  Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B...> ;Annals of Neurology. 2022 Aug 1
• 11 citations
  Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
  Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G. Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrah...> ;American Journal of Medical Genetics. Part A. 2021 Nov 23
• 32 citations
  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
  Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, T...> ;American Journal of Human Genetics. 2021 Oct 7
• Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
  Daniel G. Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Po...> ;Annals of Clinical and Translational Neurology. 2021 Sep 15
• 6 citations
  Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
  Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Sh...> ;Genetics in Medicine. 2021 Aug 12
• 6 citations
  Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis.
  Isabella Herman, Cemal Karakas, Troy A. Webber, Stephen F. Kralik, Danielle Takacs, Kristen Fisher, Ethan A. Edmondson, James J. Riviello, Gary D. Clark, Davut Pehlivan> ;Pediatric Neurology. 2021 Aug 1
• 1 citations
  Clinical and Neuroimaging Features of Peroxisomal Disorders.
  Isabella Herman, Daniel G. Calame> ;Neuropediatrics. 2021 Jul 23
• 6 citations
  Risk of sudden cardiac death in EXOSC5-related disease.
  Daniel G. Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dianna M. Milewicz, Richard A. Gibbs, Jennifer E....> ;American Journal of Medical Genetics. Part A. 2021 Jun 4
• 3 citations
  Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
  Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G. Calame, Jill V. Hunter, V. Reid Sutton, Elif Y...> ;American Journal of Medical Genetics. Part A. 2021 May 8
• 13 citations
  Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
  Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady, Michael Zech, Siddharth Srivastava, David A. Sweetser, Yasemin Dincer, Vol...> ;Human Mutation. 2021 Apr 13
• 9 citations
  A systematic-review of olfactory deficits in neurodevelopmental disorders: From mouse to human.
  Ariel M. Lyons-Warren, Isabella Herman, Patrick J. Hunt, Benjamin R. Arenkiel> ;Neuroscience and Biobehavioral Reviews. 2021 Feb 18
• Apneic Seizures in a Child with Achondroplasia.
  Daniel G. Calame, Isabella Herman, Latanya Agurs, Brandon Tran, Kimberly M Houck> ;Neuropediatrics. 2021 Feb 12
• 7 citations
  A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus.
  Daniel G. Calame, Isabella Herman, James J. Riviello> ;Epilepsy & Behavior Reports. 2021 Jan 7
• 19 citations
  Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
  Isabella Herman, Michael A. Lopez, Dana Marafi, Davut Pehlivan, Daniel G. Calame, Farida Abid, Timothy Lotze> ;Muscle & Nerve. 2021 Mar 1
• 14 citations
  POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain.
  Cynthia K. McClard, Mikhail Y. Kochukov, Isabella Herman, Zhandong Liu, Aiden Eblimit, Yalda Moayedi, Joshua Ortiz-Guzman, Daniel Colchado, Brandon Pekarek, Sugi Panne...> ;The Journal of Neuroscience. 2018 Jan 5
• 28 citations
  Developmental broadening of inhibitory sensory maps
  Kathleen B. Quast, Kevin Ung, Emmanouil Froudarakis, Longwen Huang, Isabella Herman, Angela P. Addison, Joshua Ortiz-Guzman, Keith Cordiner, Peter Saggau, Andreas S. T...> ;Nature Neuroscience. 2017 Feb 1
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