| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 446 | 2017 |
| A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ... Cell 159 (1), 200-214, 2014 | 433 | 2014 |
| Effect of genetic diagnosis on patients with previously undiagnosed disease K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ... New England Journal of Medicine 379 (22), 2131-2139, 2018 | 367 | 2018 |
| Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients AS Chang, KH Moley, M Wangler, AP Feinberg, MR DeBaun Fertility and sterility 83 (2), 349-354, 2005 | 294 | 2005 |
| Racial disparity in the frequency of recurrence of preterm birth ZAF Kistka, L Palomar, KA Lee, SE Boslaugh, MF Wangler, FS Cole, ... American journal of obstetrics and gynecology 196 (2), 131. e1-131. e6, 2007 | 287 | 2007 |
| Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines NE Braverman, GV Raymond, WB Rizzo, AB Moser, ME Wilkinson, ... Molecular genetics and metabolism 117 (3), 313-321, 2016 | 280 | 2016 |
| Lessons learned from additional research analyses of unsolved clinical exome cases MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ... Genome medicine 9, 1-15, 2017 | 244 | 2017 |
| Fruit flies in biomedical research MF Wangler, S Yamamoto, HJ Bellen Genetics 199 (3), 639-653, 2015 | 210 | 2015 |
| Model organisms facilitate rare disease diagnosis and therapeutic research MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ... Genetics 207 (1), 9-27, 2017 | 200 | 2017 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 192 | 2017 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 174 | 2017 |
| Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ... PLoS genetics 10 (3), e1004258, 2014 | 138 | 2014 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 130 | 2020 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 122 | 2017 |
| Loss of nardilysin, a mitochondrial co-chaperone for α-ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration WH Yoon, H Sandoval, S Nagarkar-Jaiswal, M Jaiswal, S Yamamoto, ... Neuron 93 (1), 115-131, 2017 | 111 | 2017 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 109 | 2018 |
| 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 | 108 | 2020 |
| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation M Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ... Genetics in Medicine 21 (4), 867-876, 2019 | 98 | 2019 |
| De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea F Xia, MN Bainbridge, TY Tan, MF Wangler, AE Scheuerle, EH Zackai, ... The American Journal of Human Genetics 94 (5), 784-789, 2014 | 98 | 2014 |
| The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases HJ Bellen, MF Wangler, S Yamamoto Human molecular genetics 28 (R2), R207-R214, 2019 | 95 | 2019 |
Hugo BellenProfessor, Developmental biology, Genetics, and NeuroscienceEmail verificata su bcm.edu