KristinCurtisHermanMD

PubMed

• 36 citations
  Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
  Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu...> ;Nature Communications. 2019 Oct 15
• 41 citations
  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
  Scott C. Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-François Théroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silvi...> ;American Journal of Human Genetics. 2019 May 2
• 18 citations
  Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
  Reymundo Lozano, Kristin Herman, Melanie Rothfuss, Hillary Rieger, Pinar Bayrak-Toydemir, Davide Aprile, Floriana Fruscione, Federico Zara, Anna Fassio> ;American Journal of Medical Genetics. Part A. 2016 Aug 19
• 32 citations
  Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
  Anne S. Bie, Paula Fernandez-Guerra, Rune Isak Dupont Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L. Deignan, Hane Lee, Naghmeh Dorrani, Thomas J. Cory...> ;Frontiers in Molecular Biosciences. 2016 Oct 7
• 32 citations
  Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
  Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, ...> ;Human Mutation. 2013 Oct 1
• 42 citations
  Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
  Sandesh C.S. Nagamani, Ayelet Erez, Carolyn Bay, Anjana L. Pettigrew, Seema R. Lalani, Kristin Herman, Brett H. Graham, Małgorzata J.M. Nowaczyk, Monica Proud, William...> ;European Journal of Human Genetics. 2012 Feb 1
• 286 citations
  Autism profiles of males with fragile X syndrome.
  Susan W. Harris, David R Hessl, Beth L. Goodlin-Jones, Jessica A Ferranti, Susan Bacalman, Ingrid Barbato, Flora Tassone, Paul J. Hagerman, Kristin Herman, Randi J Hag...> ;American Journal of Mental Retardation. 2008 Nov 1
• 474 citations
  Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
  Sébastien Jacquemont, Randi J Hagerman, Maureen A. Leehey, Deborah A. Hall, Richard A. Levine, James A. Brunberg, Lin Zhang, Tristan Jardini, Louise W. Gane, Susan W. ...> ;JAMA. 2004 Jan 28
• 45 citations
  Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
  Margaret J. Kovach, Kathleen C. M. Campbell, Kristin Herman, Brook Waggoner, David A. Gelber, L.F. Hughes, Virginia Kimonis> ;American Journal of Medical Genetics. 2002 Apr 1
• 6 citations
  Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.
  Angellee S Chen, Margaret J. Kovach, Kristin Herman, Arpenik Avakian, William E. Frank, Shawnia Forrester, Jing-Ping Lin, Virginia Kimonis> ;Genetics in Medicine. 2000 Sep 1
• 55 citations
  A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness
  Margaret J. Kovach, Jing-Ping Lin, Simeon A. Boyadjiev, Kathleen C. M. Campbell, Larry Mazzeo, Kristin Herman, Lisa A. Rimer, William E. Frank, Barbara E. Llewellyn, E...> ;American Journal of Human Genetics. 1999 Jun 1
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