Interstitial duplication of 20q11.22q13.11: A case report and review of literature

by Logan Goetzinger, Rachel D. Starks, Kyle Dillahunt, Heather Major, Jaime M. Nagy, Alpa Sidhu
Published 2021-08-01

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon

by Ambroise Wonkam, Kamogelo Lebeko, Shaheen Mowla, Jean Jacques Noubiap, Mike Chong, Guillaume Pare
Published 2021-03-01

The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in Iran

by Mohammad Ali Jalali Far, Arezoo Oodi, Naser Amirizadeh, Mahshid Mohammadipour, Bijan Keikhaei Dehdezi
Published 2021-03-01

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

by Hossam Murad, Faten Moassas, Nour A. L. Fakseh
Published 2021-03-01

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community

by Karen Kengne Kamga, Nchangwi Syntia Munung, Séraphin Nguefack, Ambroise Wonkam, Jantina De Vries
Published 2021-03-01

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

by Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke
Published 2021-03-01

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

by Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat
Published 2021-03-01

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

by Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang
Published 2021-03-01

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

by Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Published 2021-03-01

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

by Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka
Published 2021-03-01

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

by Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2021-03-01

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

by Yinhui Yu, Yue Qiao, Yang Ye, Jinyu Li, Ke Yao
Published 2021-03-01

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

by Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch
Published 2021-03-01

Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus

by Raouia Fakhfakh, Sawsan Feki, Aida Elleuch, Manel Neifar, Sameh Marzouk, Nesrine Elloumi, Hend Hachicha, Olfa Abida, Zouhir Bahloul, Fatma Ayadi, Hatem Masmoudi
Published 2021-03-01

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

by Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. deEsch, Chris deGraaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. van derKnaap
Published 2021-03-01

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

by Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
Published 2021-03-01

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglo...

by Zhen Zhang, Chaolan Pan, Ruoqu Wei, Huaguo Li, Yijun Yang, Jiawen Chen, Ming Li, Zhirong Yao
Published 2021-03-01

Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population

by Sagheer Ahmed, Saeed Khan, Kholood Janjua, Imran Imran, Arif Ullah Khan
Published 2021-03-01

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

by Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Published 2021-03-01

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication

by Xiuzhu Huang, Jieping Chen, Wenlong Hu, Lu Li, Huiyan He, Hui Guo, Qiuyan Liao, Mei Ye, Donge Tang, Yong Dai
Published 2021-03-01