Genetic Evaluation of Global Developmental Delay in Children: A Series of Seven Cases by Pramila Gopal Menon, Renuka Majjigudda, Sneha Sagarkar, Parag Tamhankar, Shailaja Vijay Mane

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Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience by Kriti Arora, Minakshi Balwani, Akash Wakchaure, Gouri R Passi

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GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE by Serdar Nepesov, Sinem Fırtına, Fatma Deniz Aygün, Begüm Işıkgil, Yıldız Çamcıoğlu, Ayça Kıykım, Esra Özek Yücel, Yasemin Kendir Demirkol, Akif Ayaz

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Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways by Halima Alnaqbi, Michael Olbrich, Noora Zayed, Mira Mousa, Sarah Azzam, Syed Hammad Tirmazy, Habiba Alsafar

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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review by Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar

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A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family by Mohsen Soosanabadi, Sajjad Biglari, Sahar Bayat, Tahereh Ghorashi, Atefeh Sohanforooshan Moghaddam, Milad Gholami

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SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes by Zine‐Eddine Kherraf, Marie Christou‐Kent, Thomas Karaouzene, Amir Amiri‐Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin‐Seifer, Michael J Mitchell, Catherine Metzler‐Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry‐Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet‐Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult

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Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report by Víctor Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodriguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg

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Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter] by Idrus HH

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Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) by T. V. Markova, A. O. Borovikov, E. R. Lozier, A. A. Isaev, V. S. Kaimonov, E. A. Pomerantseva, F. A. Konovalov, O. A. Schagina, E. L. Dadali

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NEXT-GENERATION SEQUENCING IN CANCER: GENETIC DIAGNOSIS, RISK PREDICTION AND CLASSIFICATION by Özkan Özdemir

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Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene by E. L. Dadali, T. V. Markova, O. P. Ryzhkova

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A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives by Caio Robledo D'Angioli Costa Quaio, Thiago Yoshinaga Tonholo Silva, Orlando G. Barsottini, Sarah Teixeira Camargos, Marcondes C. França, Jonas A. Saute, Wilson Marques, Fernando Kok, José Luiz Pedroso

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Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing by Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami

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Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele by Caroline M. Kolvenbach, Caroline M. Kolvenbach, Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Jeshurun C. Kalanithy, Katharina Lemberg, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter

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Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants by Mikio Shiba, Shuichiro Higo, Yu Morishita, Yasuhiro Ichibori, Yoshihiro Kin, Yasushi Sakata, Yoshiharu Higuchi

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INVESTIGATION OF NEW CANDIDATE GENES IN THE PATHOGENESIS OF SARCOMAS by Demet Akdeniz Ödemiş, Rejin Kebudi, Fazilet Yıldız Özdenoğlu, Betül Çelik, Şeref Buğra Tunçer, Seda Kılıç Erciyas, Özge Şükrüoğlu Erdoğan, Sema Büyükkapu Bay, Hülya Yazıcı

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Autosomal dominant macrocephaly, acquired with impaired intellectual development: a report of an ultra-rare disease by Dinnar Yahya, Milena Stoyanova, Mari Hachmeriyan, Mariya Levkova

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Eye and bone involvement is not always osteogenesis imperfecta: unravelling the second case of spondyloocular syndrome from India by Ajaz Qadir, Ankit Chhabra, Shahid Ahmad Ganie, Mohd Rafi Mir

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Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing by Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa deAlmeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

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