CNGB1‐related rod‐cone dystrophy: A mutation review and update

por Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Publicado 2021

Identification of two novel mutations in three children with congenital factor VII deficiency

por Liang, Kairong, Nikuze, Lauriane, Zhang, Fuyong, Lu, Zhengjing, Wei, Manlv, Wei, Hongying
Publicado 2021

Large-scale frequent testing and tracing to supplement control of Covid-19 and vaccination rollout constrained by supply

por Humphrey, Lia, Thommes, Edward W., Fields, Roie, Coudeville, Laurent, Hakim, Naseem, Chit, Ayman, Wu, Jianhong, Cojocaru, Monica G.
Publicado 2021

Will vaccine-derived protective immunity curtail COVID-19 variants in the US?

por Mancuso, Marina, Eikenberry, Steffen E., Gumel, Abba B.
Publicado 2021

Evaluating the sensitivity of SARS-CoV-2 infection rates on college campuses to wastewater surveillance

por Wong, Tony E., Thurston, George M., Barlow, Nathaniel, Cahill, Nathan D., Carichino, Lucia, Maki, Kara, Ross, David, Schneider, Jennifer
Publicado 2021

Mathematical models for assessing vaccination scenarios in several provinces in Indonesia

por Nuraini, N., Sukandar, K.K., Hadisoemarto, P., Susanto, H., Hasan, A.I., Sumarti, N.
Publicado 2021

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene

por Nikasa, Parisa, Rabbani, Bahareh, Hejazi, Mohammad Saeid, Firouzi, Ata, Baharvand, Hossein, Totonchi, Mehdi, Mahdieh, Nejat
Publicado 2021

Implementation of a real-time, data-driven online Epidemic Calculator for tracking the spread of COVID-19 in Singapore and other countries

por Yap, Fook Fah, Yong, Minglee
Publicado 2021

Dynamics of COVID-19 pandemic in India and Pakistan: A metapopulation modelling approach

por Brozak, Samantha J., Pant, Binod, Safdar, Salman, Gumel, Abba B.
Publicado 2021

Switched forced SEIRDV compartmental models to monitor COVID-19 spread and immunization in Italy

por Antonelli, Erminia, Piccolomini, Elena Loli, Zama, Fabiana
Publicado 2021

Vaccine efficacy and SARS-CoV-2 control in California and U.S. during the session 2020–2026: A modeling study

por Mahmud, Md Shahriar, Kamrujjaman, Md, Adan, Md Mashih Ibn Yasin, Hossain, Md Alamgir, Rahman, Md Mizanur, Islam, Md Shahidul, Mohebujjaman, Muhammad, Molla, Md Mamun
Publicado 2021

Optimizing COVID-19 vaccination programs during vaccine shortages

por Liu, Kaihui, Lou, Yijun
Publicado 2022

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

por Tajima, Toshihiro, Oguma, Makiko
Publicado 2022

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

por Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., den Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.
Publicado 2021

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

por Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Publicado 2021

GATA2 deficiency syndrome: A decade of discovery

por Homan, Claire C., Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H., Feurstein, Simone, Rawlings, Lesley, Lawrence, David M., Andrews, James, King‐Smith, Sarah L., Harvey, Natasha L., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.
Publicado 2021

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

por Yamada, Chieko, Kubota, Takuo, Ishimi, Takeshi, Takeyari, Shinji, Yamamoto, Kenichi, Nakayama, Hirofumi, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Ozono, Keiichi
Publicado 2022

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

por Uchida, Noboru, Mizuno, Yusuke, Seno, Shohei, Koyama, Yutaro, Takahashi, Tsutomu, Shibata, Hironori, Narumi, Satoshi, Hasegawa, Tomonobu, Ishii, Tomohiro
Publicado 2022

Using passenger mutations to estimate the timing of driver mutations and identify mutator alterations

por Youn, Ahrim, Simon, Richard
Publicado 2013

Mutational Spectrum Drives the Rise of Mutator Bacteria

por Couce, Alejandro, Guelfo, Javier R., Blázquez, Jesús
Publicado 2013