KristinWhitfordBarananoMDPhD

PubMed

• Novel loss of function mutation ingene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
  Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Valentina D'Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra> ;Frontiers in Cellular Neuroscience. 2023 Jan 1
• 1 citations
  Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
  Bobby K Brar, Marisa Gilstrop Thompson, Neeta L Vora, Kelly Gilmore, Karin Blakemore, Kristen A Miller, Jessica Giordano, Andreas Dufke, Beatrix Wong, Samantha Stover,...> ;Prenatal Diagnosis. 2022 Dec 1
• 3 citations
  The association between educational attainment and SCA 3 age of onset and disease course.
  Katherine Iannuzzelli, Rosa Shi, Reece Carter, Rachel Huynh, Owen Morgan, Sheng-Han Kuo, Jee Bang, Kelly A Mills, Kristin Baranano, David S Zee, Emile Moukheiber, Rica...> ;Parkinsonism & Related Disorders. 2022 May 1
• Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during...
  Menon, D. U., Pooja Vedmurthy, Connor Murray, Belinda Chen, Akua Asiedu, Kristin Baranano, Mihee Bay, Harolyn Belcher, Vera Burton, Charles Conlon, Amena Fine, Ryan Gi...> ;Frontiers in Rehabilitation Sciences. 2022 Jan 1
• 3 citations
  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin S...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 14
• 10 citations
  De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
  Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A. Eklund, Caterina Caputi, Laura Masuelli, Nicole Corsten-Janssen, Myriam Srour, Renske Oegema, Da...> ;Brain. 2021 Aug 11
• 3 citations
  PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti...> ;Genetics in Medicine. 2021 Jun 10
• 25 citations
  TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
  Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin W. Barañano, Sonal Mahida, Anna Chassevent, Allis...> ;Human Mutation. 2021 Feb 10
• 18 citations
  Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
  David B. Beck, Mohammed Abul Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D'Souza...> ;Science Advances. 2021 Jan 20
• 14 citations
  Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
  Yanick J. Crow, Heather Marshall, Gillian I. Rice, Luis Seabra, Emma M. Jenkinson, Kristin W. Barañano, Roberta Battini, Andrea Berger, Edward Blair, Thomas Blauwblomm...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 2 citations
  Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.
  Weiyi Mu, Teresa Heller, Kristin W. Barañano> ;BMJ Case Reports. 2021 Jan 18
• 27 citations
  De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
  Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vi...> ;American Journal of Human Genetics. 2020 Aug 6
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• 26 citations
  Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
  Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin W. Barañano, Anna Chassevent,...> ;Nature Communications. 2020 May 15
• 16 citations
  Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
  , , , , , , , , , , , , , , , , , , , , , > ;Neuron. 2020 Apr 22
• 19 citations
  Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
  Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir...> ;American Journal of Human Genetics. 2020 Apr 2
• 2 citations
  Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome
  Jeffrey Lambe, Olwen C. Murphy, Weiyi Mu, Krista Sondergaard Schatz, Kristin W. Barañano, Arun Venkatesan> ;Annals of Clinical and Translational Neurology. 2020 Jan 10
• 44 citations
  A genome-wide DNA methylation signature for SETD1B-related syndrome.
  I. M. Krzyzewska, Saskia M. Maas, Peter Henneman, Karin van der Lip, Andrea Venema, Kristin W. Barañano, Anna Chassevent, Erfan Aref-Eshghi, A. J. van Essen, T. Fukuda...> ;Clinical Epigenetics. 2019 Nov 4
• 1 citations
  Acceleration and plateau: two patterns and outcomes of isolated severe fetal cerebral ventricular dilation.
  Christina J. Ge, Rosa M. Polan, Kristin W. Barañano, Irina Burd, Ahmet Baschat, Karin J. Blakemore, Edward S. Ahn, Eric B. Jelin, Angie C. Jelin> ;The Journal of Maternal-Fetal & Neonatal Medicine. 2021 Sep 1
• 2 citations
  Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
  Antonie D. Kline, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige, Stephenson Chea, Toyonori Sakata, Suhas S.P. Rao, Dale Dorsett, Vijay Pratap Singh, Jennifer L. ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 7 citations
  Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.
  Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S. Singer, Kristin W. Barañano> ;BMJ Case Reports. 2019 May 1
• 30 citations
  Monogenic disorders that mimic the phenotype of Rett syndrome.
  Siddharth Srivastava, Sonal Desai, Julie S. Cohen, Constance Smith-Hicks, Kristin W. Barañano, Ali Fatemi, Sakku Bai Naidu> ;Neurogenetics. 2018 Jan 10
• 2 citations
  Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
  Emma M. Jenkinson, Mathieu P Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, Christopher J. Kershaw, Jill E. Urquhart, Simo...> ;Nature Genetics. 2017 Jan 31
• 10 citations
  SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment
  Melanie A. McNally, Julia Johnson, Thierry A.G.M. Huisman, Andrea Poretti, Kristin W. Barañano, Ahmet A. Baschat, Carl E. Stafstrom> ;Pediatric Neurology. 2016 Nov 1
• 93 citations
  Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
  Emma M. Jenkinson, Mathieu P Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, Christopher J. Kershaw, Jill E. Urquhart, Simo...> ;Nature Genetics. 2016 Oct 1
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