StaciMKallishDO

PubMed

• Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.
  Crane, H., Asher, S., Conway, L., Drivas, T., Kallish, S.> ;American Journal of Medical Genetics. Part A. 2024 Mar 4
• Developmental epileptic encephalopathy in DLG4-related synaptopathy.
  Benedetta Kassabian, Amanda M Levy, Elena Gardella, Angel Aledo-Serrano, Amitha L Ananth, Alejandro J Brea-Fernández, Roseline Caumes, Nicolas Chatron, Alice Dainelli,...> ;Epilepsia. 2024 Apr 1
• Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency.
  Jennifer Morganroth, Lovisa Ljungberg, Amy Goldstein, Staci Kallish, Stephanie B Asher, Colin Quinn, Raymond S Price, Chafic Karam> ;Neurology. 2023 Oct 17
• 2 citations
  Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
  Jessica R C Priestley, Alyssa L Rippert, Courtney Condit, Kosuke Izumi, Staci Kallish, Theodore G Drivas> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Jun 1
• 2 citations
  Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
  Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, Sridhar R Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iaco...> ;Frontiers in Medicine. 2023 Jan 1
• 2 citations
  An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
  Frederick S. Kaplan, Jay C. Groppe, Meiqi Xu, O. Will Towler, Eduardo Grunvald, Kenneth C. Kalunian, Staci Kallish, Mona Al Mukaddam, Robert J. Pignolo, Eileen M. Shore> ;American Journal of Medical Genetics. Part A. 2021 Dec 2
• 9 citations
  Multisystem Inflammation and Organ Dysfunction After BNT162b2 Messenger RNA Coronavirus Disease 2019 Vaccination.
  Benjamin M. Kahn, Sokratis A. Apostolidis, Vatsal Bhatt, Allison R. Greenplate, Staci Kallish, Anthony LaCava, Alfredo Lucas, Nuala J. Meyer, Dan Negoianu, Alexis Ogdi...> ;Critical Care Explorations. 2021 Nov 5
• 2 citations
  Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis.
  Christie Gloria Turin, Kyu Sang Joeng, Staci Kallish, Anna Raper, Stephanie Byers Asher, Philippe M. Campeau, Amna Khan, Mona Al Mukaddam> ;Bone Reports. 2021 Aug 18
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 2 citations
  The Impact of Whole-Exome Sequencing on Kidney Disease Ontology: The Tip of the Iceberg?
  Abdallah S. Geara, Staci Kallish, Jonathan J. Hogan> ;American Journal of Kidney Diseases. 2019 Aug 1
• 74 citations
  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
  Ian M. Campbell, Sarah E Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Y. Chen, Harold I. Salmons,...> ;American Journal of Medical Genetics. Part A. 2018 Oct 1
• 16 citations
  Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.
  Stephanie Byers Asher, Rensa Chen, Staci Kallish> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 4 citations
  Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
  Marta Unolt, Jessica Barry, Maria Cristina Digilio, Bruno Marino, Anne S. Bassett, Erwin Oechslin, David W. Low, Jean B. Belasco, Staci Kallish, Kathleen E. Sullivan, ...> ;European Journal of Medical Genetics. 2018 Feb 12
• 85 citations
  WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
  Mingang Xu, Jeremy Horrell, Melinda Snitow, Jiawei Cui, Heather Gochnauer, Camille M. Syrett, Staci Kallish, John T. Seykora, Fei Liu, Dany Gaillard, Jonathan P. Katz,...> ;Nature Communications. 2017 Jun 7
• 8 citations
  A disease severity scoring system for children with type 1 Gaucher disease
  Staci Kallish, Paige Kaplan> ;European Journal of Pediatrics. 2013 Jan 1
• 10 citations
  Ablepharon-Macrostomia syndrome--extension of the phenotype.
  Staci Kallish, Donna M. McDonald-McGinn, Mieke M. van Haelst, Scott P. Bartlett, James A. Katowitz, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2011 Dec 1
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