| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 794 | 2021 |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 710 | 2019 |
| De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder S Dong, MF Walker, NJ Carriero, M DiCola, AJ Willsey, YY Adam, ... Cell reports 9 (1), 16-23, 2014 | 194 | 2014 |
| Comparative anatomy of the porcine and human thoracic spines with reference to thoracoscopic surgical techniques H Bozkus, NR Crawford, RH Chamberlain, TD Valenzuela, A Espinoza, ... Surgical Endoscopy And Other Interventional Techniques 19, 1652-1665, 2005 | 95 | 2005 |
| 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 | 91 | 2019 |
| A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing MS Bramble, EH Goldstein, A Lipson, T Ngun, A Eskin, JE Gosschalk, ... Human Reproduction 31 (4), 905-914, 2016 | 90 | 2016 |
| Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans AG Ercan-Sencicek, S Jambi, D Franjic, S Nishimura, M Li, P El-Fishawy, ... European Journal of Human Genetics 23 (2), 165-172, 2015 | 73 | 2015 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 52 | 2024 |
| Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population P Bauer, KK Kandaswamy, MER Weiss, O Paknia, M Werber, ... Genetics in Medicine 21 (1), 53-61, 2019 | 46 | 2019 |
| Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease E Imahorn, Z Yüksel, I Spoerri, G Gürel, C Imhof, ZN Saraçoğlu, ... Journal of the European Academy of Dermatology and Venereology 31 (10), 1722 …, 2017 | 34 | 2017 |
| Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea C Binay, E Simsek, O Cilingir, Z Yuksel, O Kutlay, S Artan International Journal of Endocrinology 2014 (1), 768506, 2014 | 33 | 2014 |
| Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome C Bonnard, M Shboul, SH Tonekaboni, AYJ Ng, S Tohari, K Ghosh, A Lai, ... European journal of medical genetics 61 (10), 585-595, 2018 | 30 | 2018 |
| Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy LJ Grange, JJ Reynolds, F Ullah, B Isidor, RF Shearer, X Latypova, ... Nature communications 13 (1), 6664, 2022 | 27 | 2022 |
| Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability AM Bertoli-Avella, JM Garcia-Aznar, O Brandau, F Al-Hakami, Z Yüksel, ... European Journal of Human Genetics 26 (4), 592-598, 2018 | 27 | 2018 |
| A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay J Trinh, I Hüning, Z Yüksel, N Baalmann, S Imhoff, C Klein, A Rolfs, ... Journal of Human Genetics 63 (9), 997-1001, 2018 | 22 | 2018 |
| Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome C Cozma, M Hovakimyan, MI Iurașcu, N Makhseed, LA Selim, ... Orphanet Journal of Rare Diseases 14, 1-10, 2019 | 17 | 2019 |
| VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema M Tetikoğlu, Z Yüksel, S Aktas, HM Sağdik, F Özcura International Ophthalmology 38, 2381-2388, 2018 | 14 | 2018 |
| Three single nucleotide polymorphisms of LOXL1 in a Turkish population with pseudoexfoliation syndrome and pseudoexfoliation glaucoma Y Yaz, N YILDIRIM, Y Yaz, O Çilingir, Z Yuksel, F Mutlu TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY 48 (5), 2018 | 14 | 2018 |
| Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal … Z Yüksel, M Yazol, E Gümüş American Journal of Medical Genetics Part A 179 (8), 1603-1608, 2019 | 12 | 2019 |
| Baylor-Hopkins Center for Mendelian Genomics D Pehlivan, Y Bayram, N Gunes, Z Coban Akdemir, A Shukla, T Bierhals, ... The genomics of arthrogryposis, a complex trait: candidate genes and further …, 2019 | 12 | 2019 |
