Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant by K. Klaassen, B. Kecman, S. Stankovic, J. Komazec, S. Pavlovic, Maja Stojiljkovic, M. Djordjevic

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Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye by Kısmet Çıkı, Ceren Alavanda, Emine İpek Ceylan, Tijen Tanyalçın, Sebile Kılavuz

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Clinical and molecular evaluation of 16 patients with Rett syndrome by Pınar Zengin-Akkuş, Ekim Z Taşkıran, Serkan Kabaçam, Pelin Özlem Şimşek-Kiper, Göknur Haliloğlu, Koray Boduroğlu, Gülen Eda Utine

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Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort by Yan Liu, Yang Sun, Qiuyi Huo, Linghao Song, Xinyue Wang, Xin Shen, Ye Zhao, Tianhui Chen, Yongxiang Jiang

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Intrinsic and extrinsic factors affecting the evolution of virulence in the HIV-associated opportunistic human fungal pathogen Cryptococcus neoformans by Yuanyuan Wang, Yiwu Yu, Jihong Liu, Linghua Li, Xiaoqing Chen, Sichu Xiong, Yuying Pan, Qinyu Tang, Munika Moses, Ping Zhan, Guojian Liao, Min Chen, Liping Zhu, Muyuan Li, Tao Zhou, Jingjun Zhao, Changbin Chen

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Clinical presentation of juvenile Huntington disease by Ruocco Heloísa H., Lopes-Cendes Iscia, Laurito Tiago L., Li Li M., Cendes Fernando

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CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study by Xicui Long, Bingqian Yang, Wei Wang, Wan Peng, Xiaolu Wang, Wenyu Xiong, Man Liu, Huijun Yuan, Yu Lu

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Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review by Anran Tian, Sujuan Li, Furong Liang, Minglan Yao, Niusha Mostafavi, Yingying Li, Xiaoping Luo, Cai Zhang

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Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis by Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid, ESMI study group

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Molecular and Hematological Characterization of α-Thalassemia in Denizli Province by Derya Karaer, Tuba Uğurlu Er, Nevin Alayvaz Aslan, Taner Durak

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Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature by Dhekra Ismail, Lilia Kraoua, Sylvie Jaillard, Hela Bellil, Mohamed Zairi, Faouzi Maazoul, Ridha Mrad, Mohamed Nabil Nessib, Mediha Trabelsi

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Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever by Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly, Alain Chebly

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Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies by Seung Jae Lee, Sohyang Jeong, Somin Lee, Seong Ho Jung, Myung-Whan Suh, Jae-Jin Song, Jun Ho Lee, Jung Min Ko, Moo Kyun Park, Sang-Yeon Lee

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Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization by Xiongda Liang, Jiameng Si, Hongting Xie, Yuqing Guan, Wanying Lin, Zezhang Lin, Ganwei Zheng, Xiaofeng Wei, Xingbang Xiong, Zhengfei Zhuang, Xuan Shang

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Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett by Fernanda T. de Lima, Decio Brunoni, José Salomão Schwartzman, Maria Cristina Pozzi, Fernando Kok, Yara Juliano, Lygia da Veiga Pereira

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Unveiling the causative role of promoter variant rs113823671 in MMP7 in gallbladder cancer susceptibility by Vinay Jeeyar, Kusumbati Besra, Shivaram Prasad Singh, Manjusha Dixit

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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions by Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, MD, PhD, Elisa Benetti, MD, PhD, Marcus R. Benz, MD, Anna Bjerre, MD, PhD, Bernard R. Boudailliez, MD, Antonia Bouts, MD, PhD, Jens Drube, Ann Christin Gjerstad, MD, PhD, Augustina Jankauskiene, MD, PhD, Eszter Jávorszky, PhD, Nadine Jay, MD, Martin Kirschstein, MD, PhD, Nataša Marčun Varda, MD, PhD, Olivier Niel, MD, PhD, François Nobili, MD, Christine Pietrement, MD, PhD, Dovile Ruzgiene, MD, Raphael Schild, MD, Hagen Staude, MD, Kálmán Tory, MD, PhD, Michel Tsimaratos, MD, PhD, Ulrike Walden, MD, Hildegard Zappel, MD

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Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center by Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Meshari Fayez Aladhadh, Sara Abdulrahman Alkaff

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Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas by Eloísa Sánchez-Cazorla, Borja Temes-Álvarez, Pilar Oliveros-Martínez, Pedro Fortes-González, María García-Murias, Ana Barcia de la Iglesia, Noa Carrera, Miguel Ángel García-González

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Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing by Nurgul Atas, Murat Karaoglan, Gülper Nacarkahya

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