MariMoriMD

PubMed

• Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
  Denise Aldrian, Birgit Waldner, Georg F Vogel, Areeg H El-Gharbawy, Patrick McKiernan, Jerard Vockley, Yuval E Landau, Fuad Al Mutairi, Karolina M Stepien, Anne Mei-Kw...> ;Journal of Inherited Metabolic Disease. 2024 Mar 1
• Perinatal-lethal nonimmune fetal hydrops attributed to-associated bone marrow failure.
  Camille A Dash, Jill A Madden, Christy Cummings, Melissa Rose, Sheria D Wilson, Mari Mori, Pankaj B Agrawal, Bimal P Chaudhari, Monica H Wojcik> ;Cold Spring Harbor Molecular Case Studies. 2023 Jun 1
• 10 citations
  The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
  Aya Abu-El-Haija, Honey V Reddi, Hannah Wand, Nancy C Rose, Mari Mori, Emily Qian, Michael F Murray> ;Genetics in Medicine. 2023 May 1
• Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
  Marco L Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P Rodriguez, Margie Ream, Yanick J Crow, Mari Mori> ;European Journal of Medical Genetics. 2023 Apr 1
• 1 citations
  Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
  Mari Mori, Amanda R Clause, Kristen Truxal, R Tanner Hagelstrom, Kandamurugu Manickam, Stephen G Kaler, Vinay Prasad, Jonathan Windster, Maria M Alves, Carlo Di Lorenzo> ;JPGN Reports. 2022 Nov 1
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
  Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L M Marcelis, Riikka Keski-Filppula, Miriam Gui...> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
• Phenotypic Spectrum in a Family Sharing a HeterozygousVariant.
  Kristen Arredondo, Cortlandt Myers, Emily Hansen-Kiss, Mariam T Mathew, Vijayakumar Jayaraman, Amy Siemon, Dennis Bartholomew, Gail E Herman, Mari Mori> ;Journal of Child Neurology. 2022 May 1
• 4 citations
  Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
  Kelsey Lecerf, Daniel C Koboldt, Hye Sun Kuehn, Vijayakumar Jayaraman, Kristy Lee, Theresa Mihalic Mosher, Jennifer R Yonkof, Mari Mori, Scott E Hickey, Samuel Frankli...> ;Rheumatology. 2022 Dec 23
• 1 citations
  Pseudoxanthoma Elasticum.
  Gabrielle Brokamp, Mari Mori, Esteban Fernandez Faith> ;JAMA Dermatology. 2022 Jan 1
• 6 citations
  Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
  Marilena Melas, Esko A. Kautto, Samuel J Franklin, Mari Mori, Kim L. McBride, Theresa Mihalic Mosher, Ruthann B. Pfau, Maria Elena Hernandez-Gonzalez, Sean McGrath, Vi...> ;Human Mutation. 2021 Dec 2
• 3 citations
  Somatic Variation as an Incidental Finding in the Pediatric Next Generation Sequencing Era.
  Marilena Melas, Mariam Mathew, Mari Mori, Vijayakumar Jayaraman, Sarah A Wilson, Cortlandt Martin, Amanda E. Jacobson-Kelly, Ben Kelly, Vincent Magrini, Elaine R. Mard...> ;Cold Spring Harbor Molecular Case Studies. 2021 Oct 29
• Focused Revision: Policy statement on folic acid and neural tube defects.
  Priya Prasad, Mari Mori, Helga V. Toriello, Acmg Professional Practice> ;Genetics in Medicine. 2021 Jul 6
• 10 citations
  Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.
  Yuzhou Zhang, Robin Kremsdorf, C. John Sperati, Kammi J. Henriksen, Mari Mori, Renee X. Goodfellow, Gabriella R. Pitcher, Cindy Benson, Nicolò Borsa, Ronald P. Taylor,...> ;Kidney International. 2020 Nov 1
• 8 citations
  Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic ...
  Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Kirkland Wilson, April Lehman, Lori-Anne Schillaci, Kandamurugu Manickam, Mari Mori, Denn...> ;JIMD Reports. 2020 Aug 16
• 38 citations
  Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
  Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George E. Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta ...> ;Genetics in Medicine. 2020 Feb 27
• 15 citations
  Effect of prematurity on genome wide methylation in the placenta.
  Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori, James F. Padbury> ;BMC Medical Genetics. 2019 Jun 28
• 20 citations
  Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• 1 citations
  Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome.
  Brittney Statler, Wendy Chen, Lori Snady-McCoy, Mari Mori, Robert H Janigian, Nitasha Khanna> ;Journal of AAPOS. 2019 Feb 1
• 6 citations
  Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
  Ana Patricia Torga, Juanita K Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos> ;Case Reports in Endocrinology. 2018 Oct 2
• 4 citations
  Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case
  Gloria T. Haskell, Mari Mori, Cynthia M. Powell, Timothy J. Amrhein, Gillian I. Rice, Lauren A. Bailey, Natasha T. Strande, Karen E. Weck, James P. Evans, Jonathan S. ...> ;Cold Spring Harbor Molecular Case Studies. 2018 Oct 1
• 1 citations
  Speculation on the naming of Moyamoya disease.
  Mari Mori, Naoko Kurokawa, Gordon Worley> ;Journal of Neuroradiology = Journal De Neuroradiologie. 2018 Apr 3
• Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 19 citations
  Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
  Mari Mori, Gloria T. Haskell, Zoheb B. Kazi, Xiaolin Zhu, Stephanie DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, Priya S. Kish...> ;Molecular Genetics and Metabolism. 2017 Dec 1
• 34 citations
  Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth
  Mari Mori, Stephanie L. Dearmey, Thomas Weber, Priya S. Kishnani> ;Bone Reports. 2016 Dec 1
• 14 citations
  Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
  Mari Mori, Lauren A. Bailey, Januario C. Estrada, Catherine Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha Bali, Anne F. Buckley, Priya S. Kishnani> ;JIMD Reports. 2016 May 4
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