WendyJewellIntroneMD

PubMed

• Chediak-Higashi syndrome.
  Mackenzie L Talbert, May Christine V Malicdan, Wendy J Introne> ;Current Opinion in Hematology. 2023 Jul 1
• Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
  Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael...> ;Cellular and Molecular Life Sciences. 2023 Mar 4
• 1 citations
  Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
  Volha V Malechka, Dat Duong, Keyla D Bordonada, Amy Turriff, Delphine Blain, Elizabeth Murphy, Wendy J Introne, Bernadette R Gochuico, David R Adams, Wadih M Zein, Bri...> ;Ophthalmology Science. 2023 Mar 1
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
  Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F Macnamara, Jennifer Lange, Anna Lehman, Patricia M Zerfas, Jennifer L Murp...> ;NPJ Genomic Medicine. 2023 Feb 10
• A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
  Cathy D Vocke, Leah R Fleming, Anna M Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock,...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
  Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael...> ;Cellular and Molecular Life Sciences. 2023 Jan 28
• cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
  Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Ca...> ;Frontiers in Genetics. 2023 Jan 1
• 2 citations
  Nitisinone: two decades treating hereditary tyrosinaemia type 1.
  Wendy J. Introne> ;The Lancet. Diabetes & Endocrinology. 2021 May 20
• 6 citations
  Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study
  Kevin J. O'Brien, X Parisi, N R Shelman, Melissa A. Merideth, Wendy J. Introne, Theo Heller, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico> ;Journal of Internal Medicine. 2021 Jan 10
• 2 citations
  Diagnosis of Chediak Higashi disease in a 67-year old woman.
  David S Yarnell, Joseph C. Roney, Cláudia Teixeira, Maria Inês Freitas, Ana Cipriano, Pedro Leuschner, Konrad Krzewski, Joshi Stephen, Heidi Dorward, William A. Gahl, ...> ;American Journal of Medical Genetics. Part A. 2020 Dec 1
• 2 citations
  Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines.
  Jenny Serra-Vinardell, Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy J. Introne, William A. Gahl, May Christine V. Malicdan> ;Stem Cell Research. 2020 Aug 1
• 1 citations
  Aortic distensibility in alkaptonuria.
  Rashmi Thimmapuram, W. Patricia Bandettini, Sujata M Shanbhag, Jeannie H. Yu, Kevin J. O'Brien, William A. Gahl, Wendy J. Introne, Marcus Y. Chen> ;Molecular Genetics and Metabolism. 2020 Aug 1
• 8 citations
  Genetic variants associated with Hermansky-Pudlak syndrome.
  Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O'Brien, Marjan Huizing, Bernadette R. Gochuico> ;Platelets. 2020 May 18
• 4 citations
  Assessment of Thyroid Function in Patients With Alkaptonuria.
  Shirisha Avadhanula, Wendy J. Introne, Sungyoung Auh, Steven J. Soldin, Brian Stolze, Debra S Regier, Carla Ciccone, Fady Hannah-Shmouni, Armando C. Filie, Kenneth D. ...> ;JAMA Network Open. 2020 Mar 2
• 13 citations
  Chediak-Higashi syndrome: A review of the past, present, and future
  Prashant Sharma, Elena-Raluca Nicoli, Jenny Serra-Vinardell, Marie Morimoto, Camilo Toro, May Christine V. Malicdan, Wendy J. Introne> ;Drug Discovery Today. Disease Models. 2020 Jun 1
• 6 citations
  The neuropsychological phenotype of Chediak-Higashi disease
  Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe Wiggs, Angela C. Summers, Camilo Toro, Wendy J. Introne> ;Orphanet Journal of Rare Diseases. 2019 May 6
• 13 citations
  One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B
  David R. Adams, Supriya M. Menezes, Ramon Jauregui, Zaheer M. Valivullah, Bradley Power, Maria Abraham, Brett G. Jeffrey, Angel Garced, Ramakrishna P. Alur, Denise Cun...> ;JCI Insight. 2019 Mar 19
• 19 citations
  Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
  Molly E. Kuo, Arjan F. Theil, Anneke Kievit, May Christine V. Malicdan, Wendy J. Introne, Thomas Christian, Frans W. Verheijen, Desirée E.C. Smith, Marisa I. Mendes, L...> ;American Journal of Human Genetics. 2019 Mar 7
• 12 citations
  Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
  Bradley Power, Carlos Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O'Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan...> ;Orphanet Journal of Rare Diseases. 2019 Feb 21
• 13 citations
  Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
  Ann C.M. Smith, Rebecca S. Morse, Wendy J. Introne, Wallace C. Duncan> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 6 citations
  Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
  Chen G. Han, Kevin J. O'Brien, Lea M. Coon, Julie A. Majerus, Laryssa A. Huryn, Sara G. Haroutunian, Nagabhishek Moka, Wendy J. Introne, Ellen Macnamara, William A. Ga...> ;American Journal of Medical Genetics. Part A. 2018 Oct 4
• 16 citations
  Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
  Kevin J. O'Brien, Wendy J. Introne, Orhan Akal, Tulay Akal, Adrian Barbu, Melissa McGowan, Melissa A. Merideth, Samuel L. Seward, William A. Gahl, Bernadette R. Gochuico> ;Molecular Genetics and Metabolism. 2018 Sep 1
• 6 citations
  Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response.
  V. Thumbigere Math, Pedro Diniz Rebouças, Priscila Alves Giovani, Regina Maria Puppin-Rontani, Renato Corrêa Viana Casarin, Luciane Martins, L. Wang, K. Krzewski, Wend...> ;JDR Clinical and Translational Research. 2018 Jan 1
• 32 citations
  An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.
  Aleksandra Gil-Krzewska, Mezida B. Saeed, Anna Oszmiana, Elizabeth R. Fischer, Kathryn Lagrue, William A. Gahl, Wendy J. Introne, John E. Coligan, Daniel M. Davis, Kon...> ;The Journal of Allergy and Clinical Immunology. 2017 Dec 11
• 16 citations
  Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients
  Samuel C. C. Chiang, Stephanie M. Wood, Bianca Tesi, H. Haluk Akar, Waleed Al-Herz, Sandra Ammann, Fatma Burcu Belen, Umran Caliskan, Zühre Kaya, Kai Lehmberg, Turkan ...> ;Frontiers in Immunology. 2017 Apr 18
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Journal Articles

• Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant  
  William A Gahl, Dong Chen, Koyamangalath Krishnan, Wendy J Introne, American Journal of Medical Genetics Part A

Lectures

• Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild BleedingClinically Relevant Abstract 
  2018 ASH Annual Meeting - San Diego, CA - 12/1/2018