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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 689 | 2020 |
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Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 270 | 2015 |
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Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ... The American Journal of Human Genetics 97 (3), 457-464, 2015 | 173 | 2015 |
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders MB Stosser, AS Lindy, E Butler, K Retterer, CM Piccirillo-Stosser, ... Genetics in Medicine 20 (4), 403-410, 2018 | 170 | 2018 |
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 146 | 2017 |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development CL Yates, KG Monaghan, D Copenheaver, K Retterer, J Scuffins, ... Genetics in Medicine 19 (10), 1171-1178, 2017 | 140 | 2017 |
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort K Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ... Genetics in Medicine 17 (8), 623-629, 2015 | 137 | 2015 |
Global Imaging of O+ from IMAGE/HENA DG Mitchell, PCS Brandt, EC Roelof, DC Hamilton, KC Retterer, S Mende Magnetospheric imaging—The image prime mission, 63-75, 2003 | 136 | 2003 |
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 123 | 2020 |
Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ... The American Journal of Human Genetics 101 (2), 239-254, 2017 | 118 | 2017 |
A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 116 | 2021 |
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 115 | 2017 |
Sex-based analysis of de novo variants in neurodevelopmental disorders TN Turner, AB Wilfert, TE Bakken, RA Bernier, MR Pepper, Z Zhang, ... The American Journal of Human Genetics 105 (6), 1274-1285, 2019 | 99 | 2019 |
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 82 | 2021 |
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination N Damseh, A Simonin, C Jalas, JA Picoraro, A Shaag, MT Cho, B Yaacov, ... Journal of medical genetics 52 (8), 541-547, 2015 | 81 | 2015 |
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism L Shang, LB Henderson, MT Cho, DS Petrey, CT Fong, KM Haude, ... Neurogenetics 17, 43-49, 2016 | 76 | 2016 |