Results 171 to 180 of about 207,257 (328)

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Drosophila Proteome; Exome Re-sequencing; Sequencing in Nanopores

BioTechniques, 2009
K. Nybo, B. Perry
doaj   +1 more source

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

, 2011
Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery   +11 more
openalex   +2 more sources

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3‐WG4 omics working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...
Erwin A. van Vliet, Michael S. Hildebrand, James D. Mills, Gary P. Brennan, Tore Eid, Susan A. Masino, Vicky Whittemore, Laura Bindila, Kevin K. Wang, Manisha Patel, Piero Perucca, Christopher A. Reid   +11 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Exome Sequencing and Molecular Diagnosis [PDF]

Deutsches Ärzteblatt international, 2019
openaire   +3 more sources

Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A

, 2011
Mona S. Spector, Ivan Iossifov, Athena Kritharis, Chao‐Jie He, Jonathan E. Kolitz, S. W. Lowe, Steven L. Allen   +6 more
openalex   +1 more source

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome [PDF]

, 2011
Wisam Al Badr, Suha Al Bader, Edgar A. Otto, Friedhelm Hildebrandt, Todd Ackley, Weiping Peng, Jishu Xu, Jun Li, Kailey M. Owens, David A. Bloom, Jeffrey W. Innis   +10 more
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source