Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder

Authors: Sage, Adam P., Lee, Hyun Kyung, Dalmann, Joshua, Lin, Susan, Samra, Simran, Salman, Areesha, Del Bel, Kate L., Li, Wenhui Laura, Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Richmond, Phillip A.

Source: American journal of medical genetics.Part A. 191(8):2219-2224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191123189.0x000001&indx=1&recIds=ETOCvdc_100191123189.0x000001

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

Authors: Sharma, Mehul, Fu, Maggie P., Lu, Henry Y., Sharma, Ashish A., Modi, Bhavi P., Michalski, Christina, Lin, Susan, Dalmann, Joshua, Salman, Areesha, Del Bel, Kate L., Waqas, Meriam, Terry, Jefferson, Setiadi, Audi, Lavoie, Pascal M., Wasserman, Wyeth W., Mwenifumbo, Jill, Kobor, Michael S., Lee, Anna F., Kuchenbauer, Florian, Lehman, Anna, Cheng, Sylvia, Cooper, Anthony, Patel, Millan S., Turvey, Stuart E.

Source: In Blood 27 October 2022 140(17):1858-1874

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Authors: Gazzaz, Nour, Frost, F. Graeme, Alderman, Emily, Richmond, Phillip A., Dalmann, Joshua, Lin, Susan, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Cherukuri, Praveen F.

Source: American journal of medical genetics.Part A. 188(10):3089-3095

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166440841.0x000001&indx=1&recIds=ETOCvdc_100166440841.0x000001

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

Authors: Chin, Hui-Lin, Lin, Susan, Dalmann, Joshua, Modi, Bhavi, Alderman, Emily, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F.

Source: In European Journal of Medical Genetics March 2022 65(3)

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

Authors: Hejla, Duha¹, Huynh, Stephanie^2,3, Samra, Simran^4,5, Richmond, Phillip A.⁴, Dalmann, Joshua⁴, Del Bel, Kate L.⁴, Byres, Loryn⁴, Lehman, Anna⁴, Turvey, Stuart E.⁴, Boerkoel, Cornelius F.^2,3, cboerkoel@gmail.com

Source: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-7, 7p

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

Authors: Samra, Simran, Sharma, Mehul, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Byres, Loryn, Lin, Susan, Dalmann, Joshua, Salman, Areesha, Mwenifumbo, Jill, Modi, Bhavi P., Biggs, Catherine M., Boelman, Cyrus, Clarke, Lorne A., Lehman, Anna, Turvey, Stuart E.

Source: In Human Genetics and Genomics Advances 11 January 2024 5(1)

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Authors: Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.

Source: The Journal of Experimental Medicine; May 2023, Vol. 220 Issue: 5 pe20221755-e20221755, 1p