Results 51 to 60 of about 631,764 (332)

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Orphanet Journal of Rare Diseases, 2022
Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we
Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jian-bin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao   +10 more
semanticscholar   +1 more source

The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]

, 2013
We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could cause disease have already been identified ...
arxiv   +1 more source

Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study

American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023
Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel, Carissa M. Rocheleau, Brittany S. Hollerbach, Amel Omari, Sara A. Jahnke, Lynn M. Almli, Andrew F. Olshan, National Birth Defects Prevention Study   +7 more
wiley   +1 more source

Genetics and genomic medicine in Argentina [PDF]

, 2018
A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.Fil: Vishnopolska, Sebastián Alexis.
Avena, Barbero, Borrajo, Borrajo, Botto, Botto, Brenner, Chiesa, Christianson, Di Lonardo, Egeland, González-Morón, Groisman, Homburger, Kling, Kling, Langou, Liascovich, Ma, Nemirovsky, Orrego, Penchaszadeh, Ruitberg, Seldin, Stevenson, Therrell, Therrell, Vázquez   +27 more
core   +1 more source

A weighted U statistic for association analysis considering genetic heterogeneity [PDF]

, 2015
Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex ...
arxiv   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity

Frontiers in Immunology, 2019
The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova, Lyubov E. Salnikova, Lyubov E. Salnikova, Ekaterina V. Chernyshova, Lyudmila A. Anastasevich, Sergey S. Larin   +5 more
doaj   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases.

The FEBS Journal
Dysregulation and hyperactivation of innate immune responses can lead to the onset of systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by inborn genetic errors and based on molecular mechanisms at play, can be divided ...
Laura M Merlo Pich, Athanasios Ziogas, M. Netea   +2 more
semanticscholar   +1 more source

Rare and common genetic determinants of metabolic individuality and their effects on human health

Nature Network Boston, 2022
Garrod’s concept of ‘chemical individuality’ has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale.
P. Surendran, I. Stewart, Victoria P W Au Yeung, Maik Pietzner, Johannes Raffler, Maria A. Wörheide, Chen Li, Rebecca F Smith, L. Wittemans, L. Bomba, C. Menni, J. Zierer, Niccolo' Rossi, Patricia A Sheridan, N. Watkins, M. Mangino, P. Hysi, E. di Angelantonio, M. Falchi, T. Spector, N. Soranzo, G. Michelotti, W. Arlt, L. Lotta, Spiros C. Denaxas, H. Hemingway, E. Gamazon, J. Howson, A. Wood, J. Danesh, N. Wareham, G. Kastenmüller, E. Fauman, K. Suhre, A. Butterworth, C. Langenberg   +35 more
semanticscholar   +1 more source