JillVHunterMD

PubMed

• Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
  Roni Zemet, Elizabeth Mizerik, Jill A Rosenfeld, Liesbeth Vossaert, Christian M Parobek, Matthew A Shanahan, Brian A Burnett, Steven L Clark, Jill V Hunter, Seema R La...> ;Clinical Genetics. 2024 Mar 28
• Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
  Amanda Gerard, Elizabeth Mizerik, Carrie A Mohila, Sarah AlAwami, Jill V Hunter, Debra L Kearney, Seema R Lalani, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2024 Mar 12
• 1 citations
  Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
  Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shah...> ;Journal of Inherited Metabolic Disease. 2023 Nov 1
• 1 citations
  Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.
  Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D Odom, Jill V Hunter, Saima M Ali, Lindsay C Burrage, Robia G Pautler, Hannah P Thompson, Akihiko Urayama, Zixue Jin,...> ;JCI Insight. 2023 Sep 8
• 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
• Chronic parotitis and sialocele: An unusual cause of persistent facial swelling in a patient with relapsed leukemia.
  Chelsea Daignault, Amy Dimachkieh, Jill V Hunter, Gail Demmler-Harrison, Baheyeldin Salem, Eric S Schafer, Alexandra Stevens> ;Pediatric Blood & Cancer. 2023 May 26
• A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
  Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowe...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 3 citations
  TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
  Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina...> ;American Journal of Human Genetics. 2022 Dec 1
• 8 citations
  Harmonization of Multi-Center Diffusion Tensor Tractography in Neonates with Congenital Heart Disease: Optimizing Post-Processing and Application of ComBat.
  Benjamin Meyers, Vincent K Lee, Lauren Dennis, Julia Wallace, Vanessa Schmithorst, Jodie K Votava-Smith, Vidya Rajagopalan, Elizabeth Herrup, Tracy Baust, Nhu N Tran, ...> ;Neuroimage. Reports. 2022 Sep 1
• Management of Extensive Central Nervous System Cladophialophora bantiana Infection in a 9-Year-Old Child.
  Juri Boguniewicz, Gail J Demmler-Harrison, Timothy E Lotze, Imad T Jarjour, William E Whitehead, Jessica Frontiero, Ankhi Dutta, Thomas Fogarty 3rd, Jill V Hunter, Olu...> ;The Pediatric Infectious Disease Journal. 2022 Nov 1
• 7 citations
  NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
  Joshua Manor, Daniel Calame, Charul Gijavanekar, Kristen Fisher, Jill Hunter, Elizabeth Mizerik, Carlos Bacino, Fernando Scaglia, Sarah H Elsea> ;Molecular Genetics and Metabolism. 2022 Jun 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
• 3 citations
  Diffusion Tensor Imaging Correlates of Resilience Following Adolescent Traumatic Brain Injury.
  Adam T. Schmidt, Hannah M. Lindsey, Emily Dennis, Elisabeth A. Wilde, Brian Biekman, Zili D. Chu, Gerri Hanten, Dana L. Formon, Matthew S Spruiell, Jill V. Hunter, Har...> ;Cognitive and Behavioral Neurology. 2021 Dec 2
• 3 citations
  Bannwarth Syndrome: A Rare Manifestation of Pediatric Lyme Neuroborreliosis.
  Ankhi Dutta, Jill V. Hunter, Jesus G. Vallejo> ;The Pediatric Infectious Disease Journal. 2021 Nov 1
• 16 citations
  Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
  Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P. Ferla, Charul Gijavanekar, A Al-Maraghi, Ning Liu, E Sites, Hessa S. Alsaif, Mohammed Al-Owain, M Zakkariah, E...> ;Brain. 2021 Oct 4
• 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
  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
• 20 citations
  Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
  Gabriel C. Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan Bağış Erdem, Zeynep Coban Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid ...> ;Genetics in Medicine. 2021 May 30
• 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
• 2 citations
  A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
  Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock, Pengfei Liu, Jill V. Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Timot...> ;American Journal of Medical Genetics. Part A. 2021 May 5
• 12 citations
  Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
  Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M Fatih, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Richard A. Gibbs, Davut Pehlivan, Jill ...> ;American Journal of Medical Genetics. Part A. 2021 Feb 5
• 13 citations
  MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
  Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H. Graham, Scott E. Hickey, Stephanie M. Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette ...> ;Annals of Neurology. 2021 Jan 14
• 4 citations
  Developmental Alterations in Cortical Organization and Socialization in Adolescents Who Sustained a Traumatic Brain Injury in Early Childhood.
  Elisabeth A. Wilde, Tricia L. Merkley, Hannah M. Lindsey, Erin D. Bigler, Jill V. Hunter, Linda Ewing-Cobbs, Mary E. Aitken, Marianne Macleod, Gerri Hanten, Zili D. Ch...> ;Journal of Neurotrauma. 2021 Jan 1
• 9 citations
  Acute pediatric traumatic brain injury severity predicts long-term verbal memory performance through suppression by white matter integrity on diffusion tensor imaging
  Hannah M. Lindsey, Sanam J. Lalani, Jonathan Mietchen, Shawn D. Gale, Elisabeth A. Wilde, Jessica Faber, Marianne Macleod, Jill V. Hunter, Zili D. Chu, Mary E. Aitken,...> ;Brain Imaging and Behavior. 2020 Oct 1
• 6 citations
  Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
  Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Angad Jolly, Haowei Du, Hasnaa M. Elbendary, Shalini N. Jhangiani, Zeynep Coban Akdemir, Richard A. Gibbs, Jill V. Hunter, ...> ;Brain. 2020 Oct 1
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Other

• Approach to neuroimaging in children 
  Hunter JV
  http://www.uptodate.com/contents/approach-to-neuroimaging-in-children
  UpToDate, Wolters Kluwer Health - 2012-09-19