| Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis R Adam, I Spier, B Zhao, M Kloth, J Marquez, I Hinrichsen, J Kirfel, ... The American Journal of Human Genetics 99 (2), 337-351, 2016 | 251 | 2016 |
| Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome DA Braun, S Lovric, D Schapiro, R Schneider, J Marquez, M Asif, ... The Journal of clinical investigation 128 (10), 4313-4328, 2018 | 113 | 2018 |
| SUMOylation of Pax7 is essential for neural crest and muscle development Z Luan, Y Liu, TJ Stuhlmiller, J Marquez, MI García-Castro Cellular and Molecular Life Sciences 70, 1793-1806, 2013 | 44 | 2013 |
| Disrupted ER membrane protein complex–mediated topogenesis drives congenital neural crest defects J Marquez, J Criscione, RM Charney, MS Prasad, WY Hwang, EK Mis, ... The Journal of clinical investigation 130 (2), 813-826, 2020 | 31 | 2020 |
| Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 27 | 2020 |
| DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation R Schneider, K Deutsch, GJ Hoeprich, J Marquez, T Hermle, DA Braun, ... The American Journal of Human Genetics 107 (6), 1113-1128, 2020 | 26 | 2020 |
| Xenopus: driving the discovery of novel genes in patient disease and their underlying pathological mechanisms relevant for organogenesis WY Hwang, J Marquez, MK Khokha Frontiers in Physiology, 953, 2019 | 24 | 2019 |
| Blastula stage specification of avian neural crest MS Prasad, E Uribe-Querol, J Marquez, S Vadasz, N Yardley, PB Shelar, ... Developmental biology 458 (1), 64-74, 2020 | 23 | 2020 |
| Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells S Kulkarni, J Marquez, P Date, R Ventrella, BJ Mitchell, MK Khokha Elife 10, e66076, 2021 | 22 | 2021 |
| Pax7 is regulated by cMyb during early neural crest development through a novel enhancer S Vadasz, J Marquez, M Tulloch, NA Shylo, MI García-Castro Development 140 (17), 3691-3702, 2013 | 21 | 2013 |
| Nucleoporin NUP205 plays a critical role in cilia and congenital disease J Marquez, D Bhattacharya, CP Lusk, MK Khokha Developmental Biology 469, 46-53, 2021 | 18 | 2021 |
| DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes J Marquez, N Mann, K Arana, E Deniz, W Ji, M Konstantino, EK Mis, ... Journal of Medical Genetics 58 (7), 453-464, 2021 | 14 | 2021 |
| Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis R Jiang, J Marquez, JI Tower, D Jacobs, W Chen, S Mehra, ML Prasad, ... Anticancer Research 40 (11), 6375-6379, 2020 | 13 | 2020 |
| Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report I Sandokji, J Marquez, W Ji, CA Zerillo, M Konstantino, SA Lakhani, ... BMC nephrology 20, 1-5, 2019 | 11 | 2019 |
| Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome Y Mao, R Schneider, PFM van der Ven, M Assent, K Lohanadan, V Klämbt, ... Kidney International Reports 6 (2), 472-483, 2021 | 8 | 2021 |
| Expanding EMC foldopathies: Topogenesis deficits alter the neural crest J Marquez, F Aslam, MK Khokha genesis 61 (5), e23520, 2023 | 1 | 2023 |
| Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease J Marquez, LN Carlozzi, DE Miller, MD Files, BA Kinghorn, E Sagiv Translational Science of Rare Diseases 6 (3), 59-72, 2023 | | 2023 |
| The dishevelled associated activator of morphogenesis protein 2 (Daam2) regulates neural tube closure K Nama, B Su, J Marquez, MK Khokha, R Habas Developmental Dynamics, 0 | | |
