| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 292 | 2015 |
| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 276 | 2017 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 180 | 2015 |
| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 173 | 2018 |
| Phenotypic expansion illuminates multilocus pathogenic variation E Karaca, JE Posey, Z Coban Akdemir, D Pehlivan, T Harel, SN Jhangiani, ... Genetics in Medicine 20 (12), 1528-1537, 2018 | 117 | 2018 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 116 | 2017 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 111 | 2018 |
| DVL3 alleles resulting in a− 1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ... The American Journal of Human Genetics 98 (3), 553-561, 2016 | 107 | 2016 |
| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 104 | 2016 |
| Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome E Karaca, R Buyukkaya, D Pehlivan, WL Charng, KO Yaykasli, Y Bayram, ... The Journal of Clinical Endocrinology & Metabolism 100 (1), E140-E147, 2015 | 85 | 2015 |
| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 84 | 2019 |
| Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy T Harel, G Yesil, Y Bayram, Z Coban-Akdemir, WL Charng, E Karaca, ... The American Journal of Human Genetics 98 (3), 562-570, 2016 | 72 | 2016 |
| Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 62 | 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 |
| Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome E Karaca, OO Yuregir, ST Bozdogan, H Aslan, D Pehlivan, SN Jhangiani, ... American journal of medical genetics Part A 167 (11), 2795-2799, 2015 | 58 | 2015 |
| Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency A Chen, D Tiosano, T Guran, HN Baris, Y Bayram, A Mory, ... Human molecular genetics 27 (11), 1913-1926, 2018 | 49 | 2018 |
| REST final-exon-truncating mutations cause hereditary gingival fibromatosis Y Bayram, JJ White, N Elcioglu, MT Cho, N Zadeh, A Gedikbasi, ... The American Journal of Human Genetics 101 (1), 149-156, 2017 | 48 | 2017 |
| 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 | 46 | 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 | 44 | 2021 |
| Expanding the phenotype of homozygous KCNMA1 mutations; dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy G Yeşil, A Aralaşmak, E Akyüz, D İÇAĞASIOĞLU, TU Şahin, Y Bayram Balkan medical journal 35 (4), 336-339, 2018 | 41 | 2018 |
James LupskiBaylor College of MedicineVerified email at bcm.edu
