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Articles by Abdullah Sezer
ACAN -Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey
Data Availability Statement De-identified data supporting the findings of this study are available from the corresponding author upon reasonable request. Supporting Information Filename Description ajmga70282-sup-0001-supinfo.docxWord 2007 document , 203.7 KB Supporting Information: Figure A. Pedigrees of the families carrying ACAN variants are presented. Each subpanel corresponds to a separate family and is labeled with the family number and the identified variant.
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification
Abstract Biallelic SLC20A2 variants have recently been linked to a severe childhood-onset phenotype distinct from classical adult-onset primary brain calcification, but the molecular and radiologic consequences of homozygous truncating variants remain incompletely defined. We describe a child with severe early-onset neurodevelopmental disease caused by a homozygous SLC20A2 nonsense variant and provide clinical, neuroradiologic, segregation, and transcript-level characterization.
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)
, , , et al. 2026. “Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).” American Journal of Medical Genetics Part A1–9. https://doi.org/10.1002/ajmg.a.70243. Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The data supporting the results of this study are available in the article and or can be made available to the corresponding authors upon reasonable request.
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
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Keywords PRMT9 intellectual disability whole-exome sequencing primary cilium zebrafish neurodevelopmental disorder Introduction Affecting at least 1% of the population worldwide, intellectual disability is a major healthcare problem.1,2 Defined as a substantive limitation in intellectual functioning and adaptive behavior with an age of onset before 18 years, it is clinically and genetically highly heterogeneous.3 Sequencing efforts such as trio whole-exome sequencing (WES) or whole-genome...
By Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Megana Prasad, Amandine Girard, Hong Zeng, Fengling Li, Damien Plassard, Céline Keime, Francesca Mattioli, Amélie Piton, Atsushi Fujita, Naomichi Matsumoto, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Ingrid M. Wentzensen, Teresa Santiago-Sim, Roman Yusupov, Kristian Tveten, Ebba Alkhunaizi, Chumei Li, Saskia B. Wortmann, René G. Feichtinger, Johannes A. Mayr, Xiaodong Wang, Jia Wang, Tatjana Bierhals, Lev Grinstein, Anna Ruiz, Elisabeth Gabau, Antje Kampmeier, Alma Kuechler, Konrad Platzer, Rami Abou Jamra, Audrey C. Woerner, Franco Laccone, Borut Peterlin, Goran Cuturilo, Velibor Tasic, Caroline M Kolvenbach, Friedhelm Hildebrandt, Luiza Ramos, Fernando Kok, Elifcan Taşdelen, Abdullah Sezer, Afife Büke, Thomas Courtin, Delphine Héron, Boris Keren, Sandra Whalen, Yanzhong Yang, Mariette Hoffer, Arie van Haeringen, Hossein Najmabadi, Cheryl H Arrowsmith, Hélène Dollfus, Jean S. Muller, Jean Pierre Müller, Ariane Kröll-Hermi, Corinne Stoetzel, Kimia Kahrizi, Jamali Payman, Cathy Obringer, Laurie Ruch, Claire Feger, Kim Chong Ae, Blandine Dozières, Marie Falkenberg Smeland, Gina Cowing, Herman Gonorazky, Gan Jing, Theresia Herget, Olivier Kassel, Michaela Idleburg, Susanne Gerit Kircher, Barbara Golob, Cecilia Barbosa Buck, Zehra Yavuz, Selim Selçuk Çomoğlu, Carrie Costin, Elodie Lacaze, Joelle Roume, Uwe Strähle
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The American Journal of Human Genetics
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A Founder Allele in SGCG Combining Missense Variant and Multi‐Exon Duplication in Turkish Patients With Sarcoglycanopathy
Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description cge70041-sup-0001-TableS1.docxWord 2007 document , 14.9 KB Table S1: Primer sets used in the qPCR and qRT-PCR studies. References 1 and , “On the Classification, Natural History and Treatment of the Myopathies,” Brain: A Journal of Neurology 77, no. 2 (1954): 169–231, https://doi.org/10.1093/brain/77.2.169.
A Founder Allele in SGCG Combining Missense Variant and Multi‐Exon Duplication in Turkish Patients With Sarcoglycanopathy
Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The data that support the findings of this study are available from the corresponding author upon reasonable request. Peer Review The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/cge.70041.
Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype
Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description ajmga64183-sup-0001-TableS1.xlsxExcel 2007 spreadsheet , 13.8 KB Table S1. Single-nucleotide polymorphism (SNP) genotypes of two affected individuals and two incidental heterozygous carriers used for haplotype reconstruction around the TAF13 variant (c.119 T>A). References , , , et al. 2025.
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia - European Journal of Human Genetics
Abstract Cranioectodermal dysplasia (CED) is a ciliopathy characterized by skeletal and ectodermal abnormalities, renal failure, and liver fibrosis. Pathogenic variants in genes that encode the intraflagellar transport (IFT) complex components, particularly IFT-A, are responsible for approximately two-thirds of the CED cases. However, the cause of the remaining cases remains unknown.
Multilocus Disease‐Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye
Conflicts of Interest The authors declare no conflicts of interest. Supporting Information Filename Description cge14740-sup-0001-Supinfo1.docxWord 2007 document , 36.6 KB Data S1. Gene content of large panels. cge14740-sup-0002-Supinfo2.jpgJPEG image, 118.2 KB Data S2. Visualisation of scoring algorithm. Term: phenotypic feature defined in an ontology, such as the Human Phenotype Ontology (HPO), representing characteristics associated with a gene or disease.
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
CONFLICT OF INTEREST STATEMENT There is no conflict of interest. Supporting Information Filename Description ajmga63852-sup-0001-TableS1.docxWord 2007 document , 18.2 KB Table S1. Clinical features in study subjects and other skeletal dysplasias. REFERENCES (2020). Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. European Journal of Medical Genetics, 63(11), 104009. https://doi.org/10.1016/j.ejmg.2020.104009 , , , , , , , & (1984).
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
CONFLICT OF INTEREST STATEMENT There is no conflict of interest. Supporting Information Filename Description ajmga63852-sup-0001-TableS1.docxWord 2007 document , 18.2 KB Table S1. Clinical features in study subjects and other skeletal dysplasias. REFERENCES (2020). Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. European Journal of Medical Genetics, 63(11), 104009. https://doi.org/10.1016/j.ejmg.2020.104009 , , , , , , , & (1984).
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description ajmga63782-sup-0001-TableS1.xlsxExcel 2007 spreadsheet , 20 KB Table S1. Comprehensive haplotype with common SNPs within a 7.9 Mb region surrounding the ECM1 gene; red box indicates shared haplotype. REFERENCES , , , , , , & (2011). Clinical and histopathological response to acitretin therapy in lipoid proteinosis. The Journal of Dermatological Treatment, 22(3), 178–183.
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description ajmga63782-sup-0001-TableS1.xlsxExcel 2007 spreadsheet , 20 KB Table S1. Comprehensive haplotype with common SNPs within a 7.9 Mb region surrounding the ECM1 gene; red box indicates shared haplotype. REFERENCES , , , , , , & (2011). Clinical and histopathological response to acitretin therapy in lipoid proteinosis. The Journal of Dermatological Treatment, 22(3), 178–183.
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings
Abstract Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic facial features, and delayed psychomotor development caused by biallelic pathogenic variants in the FGF-1 intracellular binding protein (FIBP) gene. To date, only four patients from two families have been reported.
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