Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Tavtigian, Sean V., Harrison, Steven M., Boucher, Kenneth M., Biesecker, Leslie G.
Published in Human mutation (01.10.2020)
Published in Human mutation (01.10.2020)
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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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Elective and Onco-fertility preservation: factors related to IVF outcomes
Cobo, A, García-Velasco, J, Domingo, J, Pellicer, A, Remohí, J
Published in Human reproduction (Oxford) (01.12.2018)
Published in Human reproduction (Oxford) (01.12.2018)
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Iranome: A catalog of genomic variations in the Iranian population
Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Sellars, Erin, Nezhadi, Sayyed Hossein, Amini, Amir, Arzhangi, Sanaz, Jalalvand, Khadijeh, Jamali, Peyman, Mohammadi, Zahra, Davarnia, Behzad, Nikuei, Pooneh, Oladnabi, Morteza, Mohammadzadeh, Akbar, Zohrehvand, Elham, Nejatizadeh, Azim, Shekari, Mohammad, Bagherzadeh, Maryam, Shamsi‐Gooshki, Ehsan, Börno, Stefan, Timmermann, Bernd, Haghdoost, Aliakbar, Najafipour, Reza, Khorram Khorshid, Hamid Reza, Kahrizi, Kimia, Malekzadeh, Reza, Akbari, Mohammad R., Najmabadi, Hossein
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Development of an artificial intelligence-based assessment model for prediction of embryo viability using static images captured by optical light microscopy during IVF
VerMilyea, M, Hall, J M M, Diakiw, S M, Johnston, A, Nguyen, T, Perugini, D, Miller, A, Picou, A, Murphy, A P, Perugini, M
Published in Human reproduction (Oxford) (28.04.2020)
Published in Human reproduction (Oxford) (28.04.2020)
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing‐Jian, Foreman, Ann K. M., Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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A review of the main histopathological findings in coronavirus disease 2019
Vasquez-Bonilla, Walter O., Orozco, Roberto, Argueta, Víctor, Sierra, Manuel, Zambrano, Lysien I., Muñoz-Lara, Fausto, López-Molina, Dennis Salomón, Arteaga-Livias, Kovy, Grimes, Zachary, Bryce, Clare, Paniz-Mondolfi, Alberto, Rodríguez-Morales, Alfonso J.
Published in Human pathology (01.11.2020)
Published in Human pathology (01.11.2020)
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PD-L1 (B7-H1) expression and the immune tumor microenvironment in primary and metastatic breast carcinomas
Cimino-Mathews, Ashley, MD, Thompson, Elizabeth, MD, PhD, Taube, Janis M., MD, Ye, Xiaobu, MD, Lu, Yao, MS, Meeker, Alan, PhD, Xu, Haiying, BS, Sharma, Rajni, PhD, Lecksell, Kristen, MS, Cornish, Toby C., MD, PhD, Cuka, Nathan, MD, Argani, Pedram, MD, Emens, Leisha A., MD
Published in Human pathology (01.01.2016)
Published in Human pathology (01.01.2016)
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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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International Committee for Monitoring Assisted Reproductive Technologies world report: Assisted Reproductive Technology 2008, 2009 and 2010
Dyer, S., Chambers, G.M., de Mouzon, J., Nygren, K.G., Zegers-Hochschild, F., Mansour, R., Ishihara, O., Banker, M., Adamson, G.D.
Published in Human reproduction (Oxford) (01.07.2016)
Published in Human reproduction (Oxford) (01.07.2016)
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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A mutation update for the FLNC gene in myopathies and cardiomyopathies
Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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Frozen embryo transfer: a review on the optimal endometrial preparation and timing
Mackens, S, Santos-Ribeiro, S, van de Vijver, A, Racca, A, Van Landuyt, L, Tournaye, H, Blockeel, C
Published in Human reproduction (Oxford) (01.11.2017)
Published in Human reproduction (Oxford) (01.11.2017)
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Journal Article
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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