| Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder MJ McCarthy, H Wei, CM Nievergelt, A Stautland, AX Maihofer, DK Welsh, ... Neuropsychopharmacology 44 (3), 620-628, 2019 | 96 | 2019 |
| De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ... The American Journal of Human Genetics 101 (5), 716-724, 2017 | 83 | 2017 |
| The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample KJ Oedegaard, M Alda, A Anand, OA Andreassen, Y Balaraman, ... BMC psychiatry 16, 1-15, 2016 | 79 | 2016 |
| Secreted amyloid precursor protein-α upregulates synaptic protein synthesis by a protein kinase G-dependent mechanism AM Claasen, D Guévremont, SE Mason-Parker, K Bourne, WP Tate, ... Neuroscience letters 460 (1), 92-96, 2009 | 74 | 2009 |
| A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ... The American Journal of Human Genetics 102 (5), 995-1007, 2018 | 61 | 2018 |
| A method to reduce ancestry related germline false positives in tumor only somatic variant calling RF Halperin, JD Carpten, Z Manojlovic, J Aldrich, J Keats, S Byron, ... BMC medical genomics 10, 1-17, 2017 | 36 | 2017 |
| Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual … E Banuelos, K Ramsey, N Belnap, M Krishnan, C Balak, S Szelinger, ... F1000Research 6, 2017 | 30 | 2017 |
| A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia AM Moskowitz, N Belnap, AL Siniard, S Szelinger, AM Claasen, ... Molecular Case Studies 2 (5), a000851, 2016 | 26 | 2016 |
| Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex J Wie, A Bharthur, M Wolfgang, V Narayanan, K Ramsey, ... Nature communications 11 (1), 3351, 2020 | 24 | 2020 |
| Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia T Feyma, K Ramsey, MJ Huentelman, DW Craig, S Padilla-Lopez, ... Movement disorders: official journal of the Movement Disorder Society 31 (11 …, 2016 | 17 | 2016 |
| Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results B Gerald, K Ramsey, N Belnap, S Szelinger, AL Siniard, C Balak, ... Seminars in Pediatric Neurology 26, 28-32, 2018 | 15 | 2018 |
| A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus P Dunn, GP Prigatano, S Szelinger, J Roth, AL Siniard, AM Claasen, ... American Journal of Medical Genetics Part A 173 (3), 611-617, 2017 | 14 | 2017 |
| Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) L Llaci, K Ramsey, N Belnap, AM Claasen, CD Balak, S Szelinger, ... Human Genetics 138, 1409-1417, 2019 | 13 | 2019 |
| Validating outsourced high throughput automated qPCR for increased research outputs from forest pathology trials R O'Neill, R McDougal, S Fraser, C Banham, M Cook, A Claasen, ... New Zealand Plant Protection 71, 355-355, 2018 | 7 | 2018 |
| Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 S Szelinger, J Krate, K Ramsey, SP Strom, PB Shieh, H Lee, N Belnap, ... Neurology: Genetics 6 (4), e468, 2020 | 6 | 2020 |
| Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia CG McCullough, S Szelinger, N Belnap, K Ramsey, I Schrauwen, ... Human Mutation 41 (2), 412-419, 2020 | 6 | 2020 |
| De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017) D Lessel, C Schob, S Kury, MRF Reijnders, T Harel, MK Eldomery, ... AMERICAN JOURNAL OF HUMAN GENETICS 102 (1), 196-196, 2018 | 4 | 2018 |
| Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders E Frankel, J Dodson, M Sharifi, R Pillai, K Ramsey, R Gupta, M Brzezinski, ... bioRxiv, 2020.01. 11.899658, 2020 | | 2020 |
| Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish S Isikay, A Siekierska, H Stamberger, T Deconinck, SN Oprescu, ... NATURE PUBLISHING GROUP, 2019 | | 2019 |
David Wesley CraigChair of Integrated Translational Sciences, City of HopeVerified email at coh.org
