MarilynCrandall(Higginbottom)JonesMD

PubMed

• Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
  Shaden H Yassin, Riley Henderson, Jerica Lenberg, Viridiana Murillo, David R Murdock, Jennifer Friedman, Marilyn C Jones, Kristen Wigby, Shyamanga Borooah> ;American Journal of Medical Genetics. Part A. 2023 May 1
• Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
  Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 3 citations
  Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital ...
  Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, J...> ;Genetics in Medicine. 2023 Jan 1
• 1 citations
  Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
  Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E Gerard, Jill A Rosenfeld, Saumya D Sisoudiya, Andres Hernandez-Garcia, Sara Loddo, ...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 13 citations
  X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
  Jia Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn C. Jones, Leslie Patrón Romero, Berardo Rinaldi, Wenhui Laura Li,...> ;Plos Genetics. 2021 Jun 23
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
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• 89 citations
  An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
  David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara A. Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne...> ;American Journal of Human Genetics. 2020 Nov 5
• 6 citations
  Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
  Erica Sanford, Marilyn C. Jones, Matthew T. Brigger, Monia Hammer, Lucia Giudugli, Stephen F. Kingsmore, David Dimmock, Matthew N. Bainbridge> ;Cold Spring Harbor Molecular Case Studies. 2020 Oct 7
• 2 citations
  Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis.
  Neda Ghassemi, Eric Rupe, Mishella Perez, Leah M Lamale-Smith, Victoria M. Fratto, Nikdokht Farid, Michael E. Hahn, Gladys A. Ramos, Yoona Ho, Rebecca Rakow-Penner, Ka...> ;Journal of Ultrasound in Medicine. 2020 Jun 29
• 45 citations
  Health Supervision for People With Achondroplasia.
  Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones> ;Pediatrics. 2020 Jun 1
• 24 citations
  Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
  Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
• 6 citations
  Further Phenotypic Characterization of Kaufman Oculocerebrofacial Syndrome: Report of Five New Cases and Literature Review
  Carolina I. Galarreta, Kristen Wigby, Marilyn C. Jones> ;Clinical Dysmorphology. 2019 Oct 1
• 35 citations
  Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
  Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfel...> ;Genetics in Medicine. 2019 Aug 1
• 12 citations
  Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
  Eva Tootleman, Barbara Malamut, Natacha Akshoomoff, Sarah N. Mattson, Hal M. Hoffman, Marilyn C. Jones, Beth F. Printz, Sergey A. Shiryaev, Paul Grossfeld> ;Cold Spring Harbor Molecular Case Studies. 2019 Jun 3
• 67 citations
  Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
  David P. Bick, Marilyn C. Jones, Stacie L Taylor, Ryan J. Taft, John W Belmont> ;Journal of Medical Genetics. 2019 Apr 25
• 4 citations
  Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (...
  Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais Hashem, Fajr A. Aleisa, Heba M. Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, André E. Minoche, Clare P...> ;American Journal of Human Genetics. 2019 Apr 4
• 2 citations
  Whole-exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum.
  Jerica Lenberg, Dolores H. Pretorius, Eric Rupe, Marilyn C. Jones, Gladys A. Ramos, Tara S. Andreasen> ;Clinical Case Reports. 2019 Feb 19
• 53 citations
  Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
  Alicia Scocchia, Kristen Wigby, Diane Masser-Frye, Miguel Del Campo, Carolina I. Galarreta, Erin Thorpe, Julia McEachern, Keisha D Robinson, Andrew M. Gross, Icsl Inte...> ;NPJ Genomic Medicine. 2019 Feb 14
• De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
  Palmer, E. E.,Hong, S.,Al Zahrani, F.,Hashem, M. O.,Aleisa, F. A.,Ahmed, HMJ.,Kandula, T.,Macintosh, R.,Minoche, A. E.,Puttick, C.,Gayevskiy, V.,Drew, A. P.,Cowley, M....> ;Am. J. Hum. Genet.. 2019 Mar 05
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
• 7 citations
  A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.
  Hannah Wangberg, Kristen Wigby, Marilyn C. Jones> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 38 citations
  Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
  Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie M. Jones, ...> ;American Journal of Human Genetics. 2018 Oct 4
• 22 citations
  Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
  P.Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas J. Wierenga, Elizabeth A. Fanning, Dorothy K. Grange, Gail E. Graham, Car...> ;European Journal of Human Genetics. 2018 Jun 14
• 26 citations
  The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congeni...
  Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David Dimmock, Stephen F. Kingsmore> ;Cold Spring Harbor Molecular Case Studies. 2018 Jun 1
• 14 citations
  Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children With Cleft Palate.
  Elissa Kim, Melissa Kanack, Milan D. Dang-Vu, Daniela Carvalho, Marilyn C. Jones, Amanda A. Gosman> ;The Cleft Palate-Craniofacial Journal. 2017 Nov 1
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