The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
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.
Published in Human genetics (01.10.2020)
Published in Human genetics (01.10.2020)
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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
Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.
Published in Human genetics (01.06.2017)
Published in Human genetics (01.06.2017)
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The hnRNP family: insights into their role in health and disease
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Book Review
Deep intronic mutations and human disease
Vaz-Drago, Rita, Fernandes Custódio, Noélia Maria, Carmo-Fonseca, Maria
Published in Human genetics (01.09.2017)
Published in Human genetics (01.09.2017)
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The genetic architecture of morphological abnormalities of the sperm tail
Touré, Aminata, Martinez, Guillaume, Kherraf, Zine-Eddine, Cazin, Caroline, Beurois, Julie, Arnoult, Christophe, Ray, Pierre F., Coutton, Charles
Published in Human genetics (01.01.2021)
Published in Human genetics (01.01.2021)
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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
Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Published in Human genetics (01.01.2014)
Published in Human genetics (01.01.2014)
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
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.
Published in Human genetics (01.04.2016)
Published in Human genetics (01.04.2016)
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Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
Cangiano, Biagio, Swee, Du Soon, Quinton, Richard, Bonomi, Marco
Published in Human genetics (01.01.2021)
Published in Human genetics (01.01.2021)
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Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
Xu, Jia, Yang, Pengwei, Xue, Shang, Sharma, Bhuvan, Sanchez-Martin, Marta, Wang, Fang, Beaty, Kirk A., Dehan, Elinor, Parikh, Baiju
Published in Human genetics (01.02.2019)
Published in Human genetics (01.02.2019)
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Autophagy in aging and longevity
Wong, Shi Q., Kumar, Anita V., Mills, Joslyn, Lapierre, Louis R.
Published in Human genetics (01.03.2020)
Published in Human genetics (01.03.2020)
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
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.
Published in Human genetics (01.08.2017)
Published in Human genetics (01.08.2017)
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Alternative splicing in aging and longevity
Bhadra, Malini, Howell, Porsha, Dutta, Sneha, Heintz, Caroline, Mair, William B.
Published in Human genetics (01.03.2020)
Published in Human genetics (01.03.2020)
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Clinical sequencing: is WGS the better WES?
Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Published in Human genetics (01.03.2016)
Published in Human genetics (01.03.2016)
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Causal influences of neuroticism on mental health and cardiovascular disease
Zhang, Fuquan, Baranova, Ancha, Zhou, Chao, Cao, Hongbao, Chen, Jiu, Zhang, Xiangrong, Xu, Mingqing
Published in Human genetics (01.09.2021)
Published in Human genetics (01.09.2021)
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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
Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
Published in Human genetics (01.10.2013)
Published in Human genetics (01.10.2013)
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