|
| 36398383 | Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. | Am J Med Genet A | 2023 |
| 37800682 | Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | EMBO Mol Med | 2023 |
| 37221585 | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families. | BMC Oral Health | 2023 |
| 36946378 | Clinical features of generalized lipodystrophy in Turkey: A cohort analysis. | Diabetes Obes Metab | 2023 |
| 37068767 | Revisiting TOP2B-related phenotypes: Three new cases and literature review. | Clin Genet | 2023 |
| 37066513 | RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis. | EMBO Mol Med | 2023 |
| 36580738 | Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome. | Clin Neurol Neurosurg | 2023 |
| 34750818 | Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. | Clin Genet | 2022 |
| 35808914 | Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis. | Prenat Diagn | 2022 |
| 35707595 | A New Family with a Novel <i>OTUD6B</i> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot. | Mol Syndromol | 2022 |
| 35348676 | Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. | Hum Mol Genet | 2022 |
| 35344616 | Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. | Hum Mutat | 2022 |
| 35699517 | Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. | Clin Genet | 2022 |
| 35393770 | Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome. | Am J Med Genet A | 2022 |
| 35864190 | Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. | Nat Genet | 2022 |
| 36112693 | DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. | Sci Immunol | 2022 |
| 34890115 | Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. | Am J Med Genet A | 2022 |
| 35066879 | Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype. | Clin Genet | 2022 |
| 35064218 | Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2022 |
| 32898233 | Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. | Cardiovasc Res | 2021 |
| 33717833 | A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects. | Adv Sci (Weinh) | 2021 |
| 33816069 | Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements. | Balkan J Med Genet | 2021 |
| 34021162 | Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. | Nat Commun | 2021 |
| 33987976 | Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. | Am J Med Genet A | 2021 |
| 34214448 | Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. | Am J Hum Genet | 2021 |
| 34038740 | Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. | Am J Hum Genet | 2021 |
| 34231333 | A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects. | Adv Sci (Weinh) | 2021 |
| 31428927 | A rare cause of chronic hyponatremia in an infant: Questions. | Pediatr Nephrol | 2020 |
| 33224012 | Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. | Mol Syndromol | 2020 |
| 33077719 | Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. | Nat Commun | 2020 |
| 32917887 | Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. | Nat Commun | 2020 |
| 32845958 | A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. | J Exp Med | 2020 |
| 32330411 | Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. | Neuron | 2020 |
| 32140910 | Clinical exome sequencing in neuromuscular diseases: an experience from Turkey. | Neurol Sci | 2020 |
| 32488952 | Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. | Am J Med Genet A | 2020 |
| 32430271 | A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy. | Orthop Traumatol Surg Res | 2020 |
| 31549748 | Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. | Hum Mutat | 2020 |
| 31428928 | A rare cause of chronic hyponatremia in an infant: Answers. | Pediatr Nephrol | 2020 |
| 30406367 | An unusual cause of nephrotic syndrome: Questions. | Pediatr Nephrol | 2019 |
| 31782950 | Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum. | J Pediatr Endocrinol Metab | 2019 |
| 31735293 | TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. | Am J Hum Genet | 2019 |
| 31235869 | European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. | Eur J Hum Genet | 2019 |
| 31334757 | Cohesin complex-associated holoprosencephaly. | Brain | 2019 |
| 31443951 | Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. | Neuromuscul Disord | 2019 |
| 30974434 | Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. | Cytogenet Genome Res | 2019 |
| 30657919 | A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. | Hum Mol Genet | 2019 |
| 30349098 | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. | Genet Med | 2019 |
| 30487245 | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome). | J Med Genet | 2019 |
| 30287925 | Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. | Genet Med | 2019 |
| 30310124 | Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. | Eur J Hum Genet | 2019 |