Search Results - "Human Genetics"

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting by Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.

“…The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to…”
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies by Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.

“…The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are…”
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The hnRNP family: insights into their role in health and disease by Geuens, Thomas, Bouhy, Delphine, Timmerman, Vincent

“…Heterogeneous nuclear ribonucleoproteins (hnRNPs) represent a large family of RNA-binding proteins (RBPs) that contribute to multiple aspects of nucleic acid…”
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Deep intronic mutations and human disease by Vaz-Drago, Rita, Fernandes Custódio, Noélia Maria, Carmo-Fonseca, Maria

“…© Springer-Verlag Berlin Heidelberg 2017 Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of…”
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The genetic architecture of morphological abnormalities of the sperm tail by Touré, Aminata, Martinez, Guillaume, Kherraf, Zine-Eddine, Cazin, Caroline, Beurois, Julie, Arnoult, Christophe, Ray, Pierre F., Coutton, Charles

“…Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a…”
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Mendelian susceptibility to mycobacterial disease: recent discoveries by Bustamante, Jacinta

“…Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. Affected patients are highly and selectively susceptible…”
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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine by Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.

“…The Human Gene Mutation Database (HGMD ® ) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human…”
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss by Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.

“…Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has…”
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Forensic use of Y-chromosome DNA: a general overview by Kayser, Manfred

“…The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not…”
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Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease by Cangiano, Biagio, Swee, Du Soon, Quinton, Richard, Bonomi, Marco

“…A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not necessarily the complete genetic…”
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Intron retention as a component of regulated gene expression programs by Jacob, Aishwarya G., Smith, Christopher W. J.

“…Intron retention has long been an exemplar of regulated splicing with case studies of individual events serving as models that provided key mechanistic…”
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Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives by Xu, Jia, Yang, Pengwei, Xue, Shang, Sharma, Bhuvan, Sanchez-Martin, Marta, Wang, Fang, Beaty, Kirk A., Dehan, Elinor, Parikh, Baiju

“…In the field of cancer genomics, the broad availability of genetic information offered by next-generation sequencing technologies and rapid growth in…”
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Autophagy in aging and longevity by Wong, Shi Q., Kumar, Anita V., Mills, Joslyn, Lapierre, Louis R.

“…Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established…”
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes by Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Al-Kindy, Adila, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

“…In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a…”
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Missing heritability of complex diseases: case solved? by Génin, Emmanuelle

“…About 10 years ago, after the first large-scale genome-wide association studies (GWAS) were conducted to find genes associated with common complex diseases,…”
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Alternative splicing in aging and longevity by Bhadra, Malini, Howell, Porsha, Dutta, Sneha, Heintz, Caroline, Mair, William B.

“…Alternative pre-mRNA splicing increases the complexity of the proteome that can be generated from the available genomic coding sequences. Dysregulation of the…”
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Clinical sequencing: is WGS the better WES? by Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor

“…Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions…”
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The relationship between the gut microbiome and host gene expression: a review by Nichols, Robert G., Davenport, Emily R.

“…Despite the growing knowledge surrounding host–microbiome interactions, we are just beginning to understand how the gut microbiome influences—and is influenced…”
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Causal influences of neuroticism on mental health and cardiovascular disease by Zhang, Fuquan, Baranova, Ancha, Zhou, Chao, Cao, Hongbao, Chen, Jiu, Zhang, Xiangrong, Xu, Mingqing

“…We investigated the relationship between neuroticism and 16 mental and 18 physical traits using summary results of genome-wide association studies for these…”
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease by Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard

“…Some individuals with a particular disease-causing mutation or genotype fail to express most if not all features of the disease in question, a phenomenon that…”
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