| Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly N Link, H Chung, A Jolly, M Withers, B Tepe, BR Arenkiel, PS Shah, ... Developmental cell 51 (6), 713-729. e6, 2019 | 79 | 2019 |
| Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019 | 59 | 2019 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 46 | 2021 |
| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome N Chen, S Zhao, A Jolly, L Wang, H Pan, J Yuan, S Chen, A Koch, C Ma, ... The American Journal of Human Genetics 108 (2), 337-345, 2021 | 45 | 2021 |
| Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland I Järvelä, T Määttä, A Acharya, J Leppälä, SN Jhangiani, M Arvio, A Siren, ... Human Genetics 140, 1011-1029, 2021 | 30 | 2021 |
| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... Human Genetics and Genomics Advances 3 (1), 2022 | 25 | 2022 |
| Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses I Herman, A Jolly, H Du, M Dawood, GMH Abdel‐Salam, D Marafi, ... American Journal of Medical Genetics Part A 188 (3), 735-750, 2022 | 14 | 2022 |
| Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome AR Lima, BM Ferreira, C Zhang, A Jolly, H Du, JJ White, M Dawood, ... Human mutation 43 (7), 900-918, 2022 | 11 | 2022 |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia K Mao, C Borel, M Ansar, A Jolly, P Makrythanasis, C Froehlich, ... Nature Communications 14 (1), 2026, 2023 | 10 | 2023 |
| Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy AK Saad, D Marafi, T Mitani, A Jolly, H Du, HM Elbendary, SN Jhangiani, ... Brain 143 (10), e83-e83, 2020 | 8 | 2020 |
| The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation H Du, A Jolly, CM Grochowski, B Yuan, M Dawood, SN Jhangiani, H Li, ... Genome Medicine 14 (1), 122, 2022 | 6 | 2022 |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease DG Calame, T Guo, C Wang, L Garrett, A Jolly, M Dawood, A Kurolap, ... The American Journal of Human Genetics 110 (8), 1394-1413, 2023 | 4 | 2023 |
| An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates AM Mc Cartney, M Mahmoud, M Jochum, DP Agustinho, B Zorman, ... F1000Research 10, 2021 | 4 | 2021 |
| Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome C Ma, N Chen, A Jolly, S Zhao, Z Coban-Akdemir, W Tian, J Kang, Y Ye, ... Genetics in Medicine 24 (11), 2262-2273, 2022 | 3 | 2022 |
| HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data H Du, Z Dardas, A Jolly, CM Grochowski, SN Jhangiani, H Li, D Muzny, ... Nucleic Acids Research 52 (4), e18-e18, 2024 | 2 | 2024 |
| Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome A Jolly, H Du, C Borel, N Chen, S Zhao, CM Grochowski, R Duan, ... Human Genetics and Genomics Advances 4 (3), 2023 | 2 | 2023 |
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies JD Stegmann, JC Kalanithy, GC Dworschak, N Ishorst, E Mingardo, ... npj Genomic Medicine 9 (1), 18, 2024 | 1 | 2024 |
| NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy Z Dardas, JM Fatih, A Jolly, M Dawood, H Du, CM Grochowski, EG Jones, ... Genome Medicine 16 (1), 53, 2024 | | 2024 |
| A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly M Dawood, G Akay, T Mitani, D Marafi, JM Fatih, A Gezdirici, H Najmabadi, ... American Journal of Medical Genetics Part A 191 (3), 794-804, 2023 | | 2023 |
