Results 261 to 270 of about 122,453 (313)

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes. [PDF]

Genes (Basel)
Iovino E, De Masi C, Ballestrazzi A, Mattiaccio A, Isidori F, Seri M, Pippucci T.   +6 more
europepmc   +1 more source

Population‐Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole‐Genome Sequencing in Japan

Cancer Science, EarlyView.
Whole‐genome sequencing of ~50,000 individuals from the Tohoku Medical Megabank (TMM) cohort defines the prevalence, mutational landscape, and age dependency of clonal hematopoiesis in the Japanese population, demonstrating overall concordance with clonal hematopoiesis detected in cancer patients.
SungGi Chi, Ikuko N. Motoike, Takao Fujisawa, Yumi Yamaguchi‐Kabata, Takahiro Nobukuni, Kengo Kinoshita, Yoshiaki Nakamura, Hideaki Bando, Takayuki Yoshino, Kinuko Ohneda, Katsuya Tsuchihara, Yosuke Minami, Riu Yamashita   +12 more
wiley   +1 more source

Mutational signatures in hematological malignancies. [PDF]

Einstein (Sao Paulo)
Sartori FA, Pontes JVP, Campregher PV, LaFramboise T.   +3 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review. [PDF]

J Infect Dis
Gélin M, Launay É, Vince N.
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Whole exome sequencing identifies somatically mutated genes in bladder cancer: A pilot study from Bangladesh. [PDF]

Biochem Biophys Rep
Ahmed HU, Hosen MR, Mostofa MA, Hossain MA, Faruk MO, Shekhar HU, Hasan AM, Hosen MI.   +7 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source