Results 201 to 210 of about 122,453 (313)

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

, 2016
Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M. A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie   +26 more
openalex   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]

J Neurol
Faust H, Duffek P, Drukewitz S, Gburek-Augustat J, Baum P, Bergner CC, Syrbe S, Schröter J, Jamra RA, Popp D.   +9 more
europepmc   +1 more source

Genomic Insights into Uterine Leiomyomas: A Systematic Review of Whole-Genome and Whole- Exome Sequencing Studies [PDF]

Herbert Situmorang, Putri Nabila, Ilham Utama Surya, Muhammad Dwi Priangga, Riyan Hari Kurniawan, Cepi Teguh Pramayadi, Eka Rusdianto Gunardi   +6 more
openalex   +1 more source

A TLR8 Variant Identified From Whole Exome Sequencing as a Sepsis-Prone Mutation. [PDF]

FASEB Bioadv
Alhamdan F, Gianoli S, Han X, Koutsogiannaki S.   +3 more
europepmc   +1 more source

PS1147 SPATIAL HETEROGENEITY IN CHRONIC LYMPHOCYTIC LEUKAEMIA ANALYSED BY WHOLE‐GENOME/EXOME SEQUENCING AT DIAGNOSIS

, 2019
Ferran Nadeu, Romina Royo, Francesco Maura, Kevin J. Dawson, A. Dueso, David Torrents, Marta Aymerich, Magda Pinyol, Sı́lvia Beà, Armando López‐Guillermo, Javier A. Delgado, Xosé S. Puente, Elı́as Campo   +12 more
openalex   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Ending the Diagnostic Odyssey: Making Whole-Exome/Genome Sequencing the First-Line Test for Global Developmental Delay

Annals of Child Neurology
openaire   +2 more sources

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases. [PDF]

Front Pediatr
Wang C, Hou D, Wang G, Wu X, Zhou Z, Yang L, Liu Y, Wang X.   +7 more
europepmc   +1 more source