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American Journal of Medical Genetics. Part A|November 7, 2013
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasiaYasemin Alanay, Bekir Ergüner, Eda Utine, et al.
Molecular Genetics & Genomic Medicine|August 24, 2023
A new line method; A direct test in spinal muscular atrophy screening for DBSAyhan Kubar, Sehime Gülsüm Temel, Serdar Beken, et al.
European Journal of Pediatrics|May 2, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrumNazli Busra Acikgoz, Burcu Senkalfa, Berna Celik Ertas, et al.
American Journal of Medical Genetics. Part A|April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndromePelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
Frontiers in Genetics|April 1, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single centerOzlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, et al.
European Journal of Human Genetics : EJHG|October 3, 2023
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variantOzlem Akgun-Dogan, Francisca Díaz-González, Alexander Augusto de Lima Jorge, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
International Journal of Molecular Sciences|September 27, 2025
Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid DysplasiaGulipek Guven Tasbicen, Ali Tufan, Batuhan Savsar, et al.
American Journal of Human Genetics|May 11, 2010
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasiaElif Uz, Yasemin Alanay, Dilek Aktas, et al.
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