Results 141 to 150 of about 16,675 (221)

Structure of NO16, a marine non-tailed vibriophage with an unusual symmetry-mismatched vertex arrangement. [PDF]

PLoS Pathog
Otaegi-Ugartemendia S, Condezo GN, Martínez M, Kalatzis PG, Middelboe M, San Martín C.   +5 more
europepmc   +1 more source

Assessment of paralogue annotation for improving diagnostic accuracy in <i>CALM1</i>, <i>CALM2</i>, and <i>CALM3</i> genes. [PDF]

Front Genet
Curry KM, Mujkic A, Syverud N, McGill AK, Beckwell JE, Wiley EA, Bissonnette J, Kurtovic-Kozaric A, Kiel MJ.   +8 more
europepmc   +1 more source

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

Genetic Screening of Colombian Patients With Early-Onset Parkinson Disease. [PDF]

Neurol Genet
Franz TM, Gavrielatos M, Wijaya Y, Beasley AI, Kim-Hellmuth S, Strongosky AJ, Moreno-López CL, Ross OA, Wszolek ZK, Cerquera-Cleves C.   +9 more
europepmc   +1 more source

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study represents the first report suggesting a genotype–phenotype relationship between PCDH15 genetic variants and isolated retinal manifestations absent auditory impairment or syndromic features, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
wiley   +1 more source

A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU. [PDF]

Birth Defects Res
Mutlu H, Eker E, Köstekci YE, Demirtaş F, Kaymaz D, Kalenderoğlu MD, Ay A, Altıner Ş, Okulu E, Erdeve Ö, Atasay B, Arsan S.   +11 more
europepmc   +1 more source

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
A novel KRIT1 initiation‐region frameshift variant, NM_004912.4.2dup [p.(Met1IlefsTer31)], was identified in a pediatric family with familial cerebral cavernous malformation. Marked intrafamilial variability supports early molecular diagnosis, cascade family screening, and susceptibility‐sensitive MRI surveillance. ABSTRACT Background Familial cerebral
Özlem Yayıcı Köken, Mehpare Sarı Yanartaş, Hande Aygün, Ahmet Cevdet Ceylan, Kamil Karaali, Mehmet Saim Kazan   +5 more
wiley   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center. [PDF]

Epileptic Disord
Karaer D, Yüzbaşı BK, Şahin İ, Güngör O, Karaer K.   +4 more
europepmc   +1 more source

Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Whole‐exome sequencing identified compound heterozygous CPAMD8 variants supporting a congenital cataract phenotype in one family and candidate CPAMD8 variants in a second family with pathologic myopia, highlighting the need for segregation and functional validation.
Qiu‐ling Xie, Qiao Wang, Yanan Liu, Teng Huang, Jin Li   +4 more
wiley   +1 more source

Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction. [PDF]

Pediatr Pulmonol
Tabakçı SÖ, Akyan Soydaş ŞS, Tuğcu GD, Cinel G, Sağdıç AC, Özçelik U, Can Oksay S, Korkmaz Ç, Zirek F, Kekeç H, Gülen F, Hangül M, Özsezen B, Altıntaş DU, Çağlar HT, Başaran AE, Uyan ZS, Özdemir A, Ramaslı Gürsoy T, Yalçın E, Emiralioğlu N, Girit S, Kılınç AA, Çobanoğlu N, Şişmanlar Eyüboğlu T, Pekcan S, Gökdemir Y, Oğuz B, Orhan D, Ceylan AC, Kiper N.   +30 more
europepmc   +1 more source