Results 121 to 130 of about 122,453 (313)

Technological considerations for genome-guided diagnosis and management of cancer

Genome Medicine, 2016
Technological, methodological, and analytical advances continue to improve the resolution of our view into the cancer genome, even as we discover ways to carry out analyses at greater distances from the primary tumor sites.
Niall J. Lennon, Viktor A. Adalsteinsson, Stacey B. Gabriel   +2 more
doaj   +1 more source

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]

, 2016
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M, Baksi, AJ, Barton, PJR, Buchan, RJ, Cook, SA, Daubeney, P, Homfray, T, John, S, McKee, S, Murday, V, Prasad, S, Rea, G, Roses-Noguer, F, Stewart, FJ, Taylor, RW, Till, J, Walsh, R, Ware, JS, Wilk, A, Wilkinson, S   +19 more
core   +1 more source

Whole-exome and Whole-genome Sequencing of 1097 Individuals with Type 1 Diabetes Reveals Novel Genes for Diabetic Kidney Disease [PDF]

, 2023
Jani K. Haukka, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Emma H. Dahlström, Bridget M. Lin, Nora Franceschini, Valma Harjutsalo, Per‐Henrik Groop, Niina Sandholm   +9 more
openalex   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

A practical guide to filtering and prioritizing genetic variants

BioTechniques, 2017
Next-generation sequencing (NGS) of whole genomes and exomes is a powerful tool in biomedical research and clinical diagnostics. However, the vast amount of data produced by NGS introduces new challenges and opportunities, many of which require novel ...
Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien   +1 more
doaj   +1 more source

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing [PDF]

, 2017
JaeSang Ko, Hyun-Joo Lee, Jin‐Sung Lee, Jin Sook Yoon   +3 more
openalex   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Nature Communications
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI)
W. Scott Watkins, Edgar J. Hernandez, Thomas A. Miller, Nathan R. Blue, Raquel Mae Zimmerman, Eric R. Griffiths, Erwin Frise, Daniel Bernstein, Marko T. Boskovski, Martina Brueckner, Wendy K. Chung, J. William Gaynor, Bruce D. Gelb, Elizabeth Goldmuntz, Peter J. Gruber, Jane W. Newburger, Amy E. Roberts, Sarah U. Morton, John E. Mayer, Christine E. Seidman, Jonathan G. Seidman, Yufeng Shen, Michael Wagner, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi   +25 more
doaj   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source