| Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ... Neuron 106 (4), 589-606. e6, 2020 | 83 | 2020 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
| Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome M Angelozzi, A Karvande, AN Molin, AL Ritter, JMM Leonard, JM Savatt, ... Journal of medical genetics 59 (11), 1058-1068, 2022 | 12 | 2022 |
| Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome A Shillington, E Pedapati, R Hopkin, K Suhrie Molecular Genetics & Genomic Medicine 8 (6), e1230, 2020 | 8 | 2020 |
| ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder S Oates, M Absoud, S Goyal, S Bayley, J Baulcomb, A Sims, A Riddett, ... Clinical genetics 100 (4), 412-429, 2021 | 7 | 2021 |
| Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder? A Shillington, M Lamy, M Vawter-Lee, C Erickson, H Saal, D Comoletti, ... Journal of autism and developmental disorders 51, 371-376, 2021 | 5 | 2021 |
| Genetic testing in patients with nonsyndromic autism spectrum disorder and EEG abnormalities with or without epilepsy: Is exome trio-based testing the best clinical approach? A Shillington, JK Capal Epilepsy & Behavior 114, 107564, 2021 | 4 | 2021 |
| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals E Bosch, B Popp, E Güse, C Skinner, PJ van der Sluijs, I Maystadt, ... Genetics in Medicine 25 (11), 100950, 2023 | 3 | 2023 |
| Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant J Shen, A Shillington, AJ Espay, EJ Hill Neurology: Genetics 8 (4), e200001, 2022 | 3 | 2022 |
| Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain … A Shillington, A Zea Vera, T Perry, R Hopkin, C Thomas, D Cooper, ... Molecular Genetics & Genomic Medicine 9 (10), e1804, 2021 | 2 | 2021 |
| A Case of Lateral Meningocele Syndrome without Lateral Meningoceles D Rubadeux, JW Owens, A Shillington MOLECULAR SYNDROMOLOGY, 2024 | | 2024 |
| Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants S Sewani, MS Azamian, BA Mendelsohn, FT Mau‐Them, M Réda, ... American Journal of Medical Genetics Part A 194 (3), e63445, 2024 | | 2024 |
| P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes A Shillington, L White, R Doberstein, R Hopkin, K Harris, K Zappia, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| DNA episignature for White Sutton syndrome due to POGZ episignature S Haghshenas, B Simpson, A Shillington, A Garde, A Foroutan, M Levy, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 533-533, 2024 | | 2024 |
| Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate Y Chai, SSY Lee, A Shillington, X Du, CKM Fok, KC Yeung, GKY Siu, ... IBRO Neuroscience Reports 15, 218-224, 2023 | | 2023 |
| Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia A Shillington, KJ Zappia, L White, C Fosdick, CA Erickson, M Lamy, ... American Journal of Medical Genetics Part A 191 (11), 2716-2722, 2023 | | 2023 |
| Catatonia in Neurodevelopmental Disorders and the Creation of a Neurobehavioral Catatonia Specialty Clinic KC Dominick, K Zappia, A Shillington, CM Fosdick, M Lamy, CA Erickson AACAP's 70th Annual Meeting, 2023 | | 2023 |
| Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis HT Lin, A Gupta, KE Bove, S Szabo, F Xu, A Krentz, AL Shillington Journal of Pediatric Genetics 12 (03), 246-253, 2023 | | 2023 |
| A novel RYR1 variant in an infant with a unique fetal presentation of central core disease EK Baker, FN Al Gharaibeh, K Bove, MA Calvo‐Garcia, A Shillington, ... American Journal of Medical Genetics Part A 191 (6), 1646-1651, 2023 | | 2023 |
| O29: Providing genetic evaluation and testing to patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce inpatient hospital stays A Shillington, R Hopkin, K Harris, M Lamy Genetics in Medicine Open 1 (1), 2023 | | 2023 |
Robert HopkinProfessor of Clinical Pediatrics Cincinnati Children's Hospital Medical Center Divsion of HumanVerified email at cchmc.org
