AnnaChesson Edens(Edens)HurstMD

PubMed

• Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
  Matheus Augusto Araujo Castro, Juliana Heather Vedovato dos Santos, Rachel Sayuri Honjo, Guilherme L. Yamamoto, Débora Romeo Bertola, Anna C.E. Hurst, Lynn P. Chorich,...> ;American Journal of Medical Genetics. Part A. 2021 Aug 18
• 6 citations
  PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
  Anne Guimier, Melanie T. Achleitner, Anne Moreau de Bellaing, Matthew S. Edwards, Loïc de Pontual, Kirti Mittal, Kyla Dunn, Megan E. Grove, Carolyn Tysoe, Clémantine D...> ;Genetics in Medicine. 2021 Aug 16
• 5 citations
  Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins
  Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Annalaura Torella, Michele Pinelli, Beth Hudson, Megan ...> ;Clinical Genetics. 2021 Jul 29
• 26 citations
  Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
  Carole Le Coz, David N. Nguyen, Chun Su, Brian Nolan, Amanda V. Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, ...> ;The Journal of Experimental Medicine. 2021 Jul 5
• 15 citations
  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
  Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verhe...> ;American Journal of Human Genetics. 2021 May 6
• 13 citations
  DLG4-related synaptopathy: a new rare brain disorder
  Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A. Aldinger, Iñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, ...> ;Genetics in Medicine. 2021 Feb 17
• 15 citations
  Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy
  Amélie Pinard, Maximillian D.J. Fiander, Alana C. Cecchi, Andrea L. Rideout, Mohamed Azouz, Stuart M. Fraser, P. Daniel McNeely, Simon Walling, Sarah C. Novara, Anna C...> ;Neurology. 2021 Feb 10
• 7 citations
  Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
  Kevin E. Glinton, Anna C.E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah P...> ;American Journal of Medical Genetics. Part A. 2021 Jan 31
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 13 citations
  A state-based approach to genomics for rare disease and population screening.
  Kelly M. East, Whitley V. Kelley, Ashley Cannon, Meagan Cochran, Irene P. Moss, Thomas May, Mariko Nakano-Okuno, Stephen O. Sodeke, Jeffrey C. Edberg, James J. Cimino,...> ;Genetics in Medicine. 2021 Apr 1
• 7 citations
  Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
  Kevin M. Bowling, Michelle L. Thompson, David E. Gray, James M.J. Lawlor, Kelly Williams, Kelly M. East, Whitley V. Kelley, Irene P. Moss, Devin Absher, E. Christopher...> ;Genetics in Medicine. 2021 Feb 1
• 6 citations
  A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
  Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pai...> ;European Journal of Human Genetics. 2021 Feb 1
• Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
  Mohamed Kazamel, Michael A. Lopez, Martina Bebin, Kevin M. Bowling, Bruce R. Korf, Gregory S. Barsh, Gregory M. Cooper, Anna C.E. Hurst, Eroboghene E. Ubogu> ;Neurology. Genetics. 2020 Jun 25
• 5 citations
  Dysmorphology in the Era of Genomic Diagnosis.
  Anna C.E. Hurst, Nathaniel H. Robin> ;Journal of Personalized Medicine. 2020 Mar 17
• 23 citations
  Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
  Nurit Assia Batzir, Pranjali K Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, ...> ;Human Mutation. 2020 Mar 1
• 20 citations
  Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.
  Joshua D. Bernstock, Arthur H. Totten, Abdel G. Elkahloun, Kory R. Johnson, Anna C.E. Hurst, Frederick D. Goldman, Andrew K. Groves, Fady M. Mikhail, T. Prescott Atkinson> ;The Journal of Allergy and Clinical Immunology. 2020 Jan 1
• Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.
  Catherine Gooch, Nathaniel H Robin, Anna C E Hurst> ;Current Opinion in Pediatrics. 2019 Dec 1
• 16 citations
  RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
  Cédric Le Caignec, Benjamin Ory, Francois Lamoureux, Marie-Françoise O'Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna C.E. Hurst, Ka...> ;American Journal of Human Genetics. 2019 Oct 17
• 56 citations
  De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
  Lina Liang, Xia Li, Sebastien Moutton, Samantha A. Schrier Vergano, Benjamin Cogné, Anne de Saint-Martin, Anna C.E. Hurst, Y. T. Hu, Olaf Bodamer, Julien Thevenon, Chr...> ;Human Molecular Genetics. 2019 Sep 1
• 3 citations
  Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
  Taylor Woodfin, Christine Stoops, Joseph B. Philips, Edward J. Lose, Fady M. Mikhail, Anna C.E. Hurst> ;Molecular Genetics & Genomic Medicine. 2019 Jun 28
• 6 citations
  Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
  Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester, Anna C.E. Hurst> ;Molecular Cytogenetics. 2018 Dec 20
• 18 citations
  Facial recognition software in clinical dysmorphology.
  Anna C.E. Hurst> ;Current Opinion in Pediatrics. 2018 Dec 1
• 26 citations
  De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Plos Genetics. 2018 Nov 30
• 12 citations
  Unexpected Survivors: Children With Life-Limiting Conditions of Uncertain Prognosis.
  Savithri Nageswaran, Anna C.E. Hurst, Andrea Radulovic> ;The American Journal of Hospice & Palliative Care. 2018 Apr 1
• Disorders of GNAS Inactivation
  Haldeman-Englert CR, Hurst ACE, Levine MA> ;1993
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