MauraRuzhnikovMD

PubMed

• De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
  Ignacio J Keller Sarmiento, Bernabe I Bustos, Matthea Monroe, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Niccolò E Mencacci, Joanna Blackburn, Nicholas E...> ;Movement Disorders. 2024 Apr 4
• 6 citations
  Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
  Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M. Wentzensen, Maura R.Z. Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie ...> ;Journal of Medical Genetics. 2021 Jul 27
• 2 citations
  Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide.
  Maura R.Z. Ruzhnikov, Elise Brimble, Rachel Hickey> ;Pediatrics in Review. 2021 Mar 1
• 4 citations
  Identification of protein quality control regulators using a Drosophila model of TPI deficiency
  Stacy L. Hrizo, Samantha L. Eicher, Tracey D. Myers, Ian McGrath, Andrew P.K. Wodrich, Hemanth Venkatesh, Daniel T. Manjooran, Sabrina Swoger, Kim Gagnon, Matthew Brus...> ;Neurobiology of Disease. 2021 Feb 15
• 38 citations
  MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
  Eric J. Mallack, Bela R. Turk, Helena Yan, Carrie Price, Michelle Demetres, Ann B. Moser, Catherine Becker, Kim Hollandsworth, Laura Adang, Adeline Vanderver, Keith Va...> ;Journal of Inherited Metabolic Disease. 2021 Jan 9
• 4 citations
  Use of electronic medical record templates improves quality of care for patients with infantile spasms.
  Jonathan D. Santoro, Amanda Sandoval, Maura R.Z. Ruzhnikov, Elise Brimble, Whitney Chadwick, Courtney J. Wusthoff> ;Health Information Management. 2021 Jan 1
• 29 citations
  De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
  Dongxue Mao, Chloe M. Reuter, Ruzhnikov Mrz, Anita E. Beck, Emily G. Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, ...> ;American Journal of Human Genetics. 2020 Mar 19
• 5 citations
  Metabolic Disorders Presenting with Seizures in the Neonatal Period.
  Elise Brimble, Maura R.Z. Ruzhnikov> ;Seminars in Neurology. 2020 Mar 17
• 22 citations
  Expanding the molecular and clinical phenotypes of FUT8-CDG
  Bobby G. Ng, Hassan Dastsooz, Mohammad Silawi, Parham Habibzadeh, Shima Bahram Jahan, Mohammad Ali Farazi Fard, Benjamin J. Halliday, Kimiyo Raymond, Maura R.Z. Ruzhni...> ;Journal of Inherited Metabolic Disease. 2020 Feb 12
• 4 citations
  Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
  Lauren B. Carter, Agatino Battaglia, Athena M. Cherry, Melanie A. Manning, Maura R.Z. Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Fowzan S. Alkuraya, Mais ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 17
• 14 citations
  Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
  , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 35 citations
  De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
  Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A C Goos, Olajumoke O. Popoola, Maria Jesus Ortiz-Ruiz, Tina Barbaro-Dieber, Lucy ...> ;American Journal of Human Genetics. 2019 Apr 4
• 14 citations
  De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
  Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska van Belle, Sonja A de Munnik, Ernie M H F Bongers, Jolanda H Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, H...> ;American Journal of Human Genetics. 2019 Jan 3
• 1 citations
  A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata.
  Elise Brimble, Michelle Pacione, Ellyn Farrelly, David A. Stevenson, Maura R.Z. Ruzhnikov> ;Clinical Dysmorphology. 2018 Oct 1
• 3 citations
  Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
  Elise Brimble, Christopher Lee-Messer, Peter L Nagy, Jennifer Propst, Maura R.Z. Ruzhnikov> ;Molecular Syndromology. 2018 Aug 28
• 74 citations
  De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
  Sahar Esmaeeli Nieh, Maura Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara Hallin...> ;Annals of Clinical and Translational Neurology. 2015 Jun 1
• 20 citations
  Hallucinogens Causing Seizures? A Case Report of the Synthetic Amphetamine 2,5-Dimethoxy-4-Chloroamphetamine
  Mark J. Burish, Katie L. Thoren, Maura Madou, Shahed Toossi, Maulik P. Shah> ;The Neurohospitalist. 2015 Jan 1
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