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| 36919607 | An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. | Am J Med Genet A | 2023 |
| 35695963 | Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers. | Pediatr Nephrol | 2023 |
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| 37195360 | MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9. | Clin Dysmorphol | 2023 |
| 33977792 | Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel <i>CRPPA</i> mutation in different clinical manifestations. | Eur J Ophthalmol | 2022 |
| 36583896 | Familial clustering of nasopharyngeal carcinoma in the family of an adolescent with nasopharyngeal carcinoma. | Turk J Pediatr | 2022 |
| 36583892 | Cerebral developmental venous anomalies in children with mismatch repair deficiency. | Turk J Pediatr | 2022 |
| 36099689 | Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations. | Pediatr Neurol | 2022 |
| 35102031 | Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature. | Clin Dysmorphol | 2022 |
| 35220195 | Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey. | Cancer Genet | 2022 |
| 35098403 | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. | Funct Integr Genomics | 2022 |
| 35141985 | Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | J Obstet Gynaecol Res | 2022 |
| 35338243 | Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. | J Hum Genet | 2022 |
| 35261632 | Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer. | Oncol Lett | 2022 |
| 34751424 | Clinical Features, Treatment and Outcome of Childhood Glial Tumors. | Turk Neurosurg | 2022 |
| 34656997 | Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. | J Med Genet | 2022 |
| 34538860 | A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability. | Clin Dysmorphol | 2022 |
| 32764695 | METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. | J Hum Genet | 2021 |
| 33686839 | Nasopharyngeal carcinoma in a child with Kartagener`s syndrome. | Turk J Pediatr | 2021 |
| 33216650 | <i>Biallelic ZNF335</i> mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy. | J Neurogenet | 2021 |
| 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 |
| 29379883 | Homozygous <i>CAPN1</i> mutations causing a spastic-ataxia phenotype in 2 families. | Neurol Genet | 2018 |
| 30178464 | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. | Ann Neurol | 2018 |
| 30013181 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | Nat Genet | 2018 |
| 28630369 | <i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. | Cold Spring Harb Mol Case Stud | 2017 |
| 28272472 | Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. | Sci Rep | 2017 |
| 28092684 | Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. | Nat Genet | 2017 |
| 26740239 | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. | J Hum Genet | 2016 |
| 27616480 | Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. | Am J Hum Genet | 2016 |
| 27773428 | Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. | Am J Hum Genet | 2016 |
| 27912058 | Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. | Cell | 2016 |
| 27453578 | Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. | Am J Hum Genet | 2016 |
| 27016271 | Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. | Pediatrics | 2016 |
| 25220016 | NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. | Eur J Med Genet | 2015 |
| 29654772 | Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. | Neuron | 2015 |
| 26479764 | Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. | Neuropediatrics | 2015 |
| 26267703 | The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome. | Neuropediatrics | 2015 |
| 26190014 | A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. | Eur J Paediatr Neurol | 2015 |
| 25740784 | Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. | Neuro Oncol | 2015 |
| 24482476 | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | Science | 2014 |
| 25456301 | Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. | Pediatr Neurol | 2014 |
| 25521378 | Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. | Neuron | 2014 |
| 24766810 | CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. | Cell | 2014 |
| 24700674 | Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. | Am J Med Genet A | 2014 |
| 23320496 | Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. | Clin Genet | 2013 |
| 24341143 | A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? | Genet Couns | 2013 |
| 23472759 | Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. | Am J Hum Genet | 2013 |
| 23359680 | Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. | Proc Natl Acad Sci U S A | 2013 |
| 23348505 | Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. | Science | 2013 |
| 22211794 | High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. | Clin Genet | 2012 |