AmelleShillingtonDO

PubMed

• Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia.
  Katherine J Zappia, Amelle Shillington, Cara Fosdick, Craig A Erickson, Martine Lamy, Kelli C Dominick> ;Journal of Developmental and Behavioral Pediatrics. 2024 Mar 7
• Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.
  Yue Chai, Sharon Shui Ying Lee, Amelle Shillington, Xiaoli Du, Catalina Ka Man Fok, Kam Chun Yeung, Gavin Ka Yu Siu, Shiyang Yuan, Zhongyu Zheng, Hayley Wing Sum Tsang...> ;IBRO Neuroscience Reports. 2023 Dec 1
• Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
  Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle S...> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
• Novel PathogenicVariants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis.
  Hong T Lin, Anita Gupta, Kevin E Bove, Sara Szabo, Fang Xu, Anthony Krentz, Amelle L Shillington> ;Journal of Pediatric Genetics. 2023 Sep 1
• Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.
  Amelle Shillington, Lori White, Cara Fosdick, Craig A Erickson, Martine Lamy, Kelli C Dominick, Zappia, K.> ;American Journal of Medical Genetics. Part A. 2023 Nov 1
• 2 citations
  Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
  Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania ...> ;Genetics in Medicine. 2023 Nov 1
• A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
  Faris N Al Gharaibeh, Kevin Bove, Maria A Calvo-Garcia, Amelle Shillington, Katherine VandenHeuvel, DonnaMaria E Cortezzo, Baker, E.> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• 8 citations
  Consolidation of the clinical and genetic definition of arelated neurodevelopmental syndrome.
  Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolch...> ;Journal of Medical Genetics. 2022 Nov 1
• Familial Brain Calcifications With Leukoencephalopathy: A NovelVariant.
  Jack Shen, Amelle Shillington, Alberto J Espay, Emily J Hill> ;Neurology. Genetics. 2022 Aug 1
• A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelo...
  Amelle Shillington, Martine Lamy, Kelli C Dominick, Michael Sorter, Craig A Erickson, Robert Hopkin> ;Frontiers in Genetics. 2022 Jan 1
• 2 citations
  Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage,...
  Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert J. Hopkin, Cameron Thomas, David S. Cooper, Kristen Suhrie> ;Molecular Genetics & Genomic Medicine. 2021 Sep 16
• 3 citations
  ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
  Stephanie Oates, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, Katrina M. Allis, Charlotte Brasch-Andersen, Meena Balasu...> ;Clinical Genetics. 2021 Jul 3
• 4 citations
  Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical ap...
  Amelle Shillington, Jamie K. Capal> ;Epilepsy & Behavior. 2021 Jan 1
• 4 citations
  Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?
  Amelle Shillington, Martine Lamy, Marissa Vawter-Lee, Craig A. Erickson, Howard M. Saal, Davide Comoletti, Katherine Abell> ;Journal of Autism and Developmental Disorders. 2021 Jan 1
• 41 citations
  Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
  Hyunglok Chung, Michael F. Wangler, Paul C. Marcogliese, Juyeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li-Kroeger, Robert E. S...> ;Neuron. 2020 May 20
• 25 citations
  Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
  Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle Shillington, Kosuke Izumi, A...> ;Genetics in Medicine. 2020 May 19
• 4 citations
  Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome
  Amelle Shillington, Ernest V. Pedapati, Robert J. Hopkin, Kristen Suhrie> ;Molecular Genetics & Genomic Medicine. 2020 Apr 10
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