| Somatic mutations in cerebral cortical malformations SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ... New England Journal of Medicine 371 (8), 733-743, 2014 | 375 | 2014 |
| Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms AM D’Gama, S Pochareddy, M Li, SS Jamuar, RE Reiff, ATN Lam, ... Neuron 88 (5), 910-917, 2015 | 164 | 2015 |
| Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures X Zhang, J Ling, G Barcia, L Jing, J Wu, BJ Barry, GH Mochida, RS Hill, ... The American Journal of Human Genetics 94 (4), 547-558, 2014 | 157 | 2014 |
| Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research 27 (8), 1323-1335, 2017 | 127* | 2017 |
| Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans LB Hills, A Masri, K Konno, W Kakegawa, ATN Lam, E Lim-Melia, ... Neurology 81 (16), 1378-1386, 2013 | 104 | 2013 |
| Systematic computational identification of variants that activate exonic and intronic cryptic splice sites M Lee, P Roos, N Sharma, M Atalar, TA Evans, MJ Pellicore, E Davis, ... The American Journal of Human Genetics 100 (5), 751-765, 2017 | 85 | 2017 |
| Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis N Sharma, TA Evans, MJ Pellicore, E Davis, MA Aksit, AF McCague, ... PLoS genetics 14 (11), e1007723, 2018 | 55 | 2018 |
| Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features Q Ouyang, T Nakayama, O Baytas, SM Davidson, C Yang, M Schmidt, ... Proceedings of the National Academy of Sciences 113 (38), E5598-E5607, 2016 | 55 | 2016 |
| Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis ATN Lam, MA Aksit, B Vecchio-Pagan, CA Shelton, DL Osorio, ... The Journal of clinical investigation 130 (1), 272-286, 2020 | 45 | 2020 |
| Transcriptome analysis of human induced excitatory neurons supports a strong effect of clozapine on cholesterol biosynthesis D Das, X Peng, ATN Lam, JS Bader, D Avramopoulos Schizophrenia research 228, 324-326, 2021 | 15 | 2021 |
| Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder K Schmitz-Abe, G Sanchez-Schmitz, RN Doan, RS Hill, MH Chahrour, ... Scientific reports 10 (1), 14045, 2020 | 15 | 2020 |
| SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR AC Eastman, RG Pace, H Dang, MA Aksit, B Vecchio-Pagán, ATN Lam, ... Journal of Cystic Fibrosis 20 (5), 851-856, 2021 | 14 | 2021 |
| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis MA Aksit, H Ling, RG Pace, KS Raraigh, F Onchiri, AV Faino, K Pagel, ... The American Journal of Human Genetics 109 (10), 1894-1908, 2022 | 10 | 2022 |
| Transcriptomic data of clozapine-treated Ngn2-induced human excitatory neurons ATN Lam, X Peng, D Das, JS Bader, D Avramopoulos Data in Brief 35, 106897, 2021 | 4 | 2021 |
| CRISPR Del/Rei: a simple, flexible, and efficient pipeline for scarless genome editing KL Feuer, MH Wahbeh, C Yovo, E Rabie, ATN Lam, S Abdollahi, ... Scientific reports 12 (1), 11928, 2022 | 2 | 2022 |
| CRISPR Del/Rei: a simple, flexible and efficient pipeline for scarless genome editing MH Wahbeh, KL Feuer, S Abdollahi, C Yovo, E Rabie, ATN Lam, ... bioRxiv, 2021.01. 18.427163, 2021 | 1 | 2021 |
| A de novo loss-of-function mutation in PAFAH1B1 identified in a single case with agyria–pachygyria complex Y Ou, B Xiang, L Yang, W Chen, X Chen, T Cai Journal of Pediatric Neurology 18 (01), 033-038, 2020 | 1 | 2020 |
| Genetic modifiers of body mass index in individuals with cystic fibrosis H Ling, KS Raraigh, EW Pugh, MA Aksit, P Zhang, RG Pace, AV Faino, ... The American Journal of Human Genetics, 2024 | | 2024 |
| SLC26A9 SNP RS7512462 IS NOT ASSOCIATED WITH LUNG DISEASE SEVERITY OR LUNG FUNCTION RESPONSE TO IVACAFTOR IN CF PATIENTS WITH G551D-CFTR AC Eastman, RG Pace, H Dang, MA Aksit, B Vecchio-Pagan, A Lam, ... PEDIATRIC PULMONOLOGY 55, S117-S118, 2020 | | 2020 |
| Molecular Characterization of SLC26A9 and Evaluation of Its Potential Role as A Modifier of Cystic Fibrosis ATN Lam The Johns Hopkins University, 2019 | | 2019 |
Melis Atalar AksitPfizer Rare DiseaseVerified email at pfizer.com