HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

by Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T
Published 2020

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

by Sharma M., Ioannidis J.P.A., Aasly J.O., Annesi G., Brice A., Bertram L., Bozi M., Barcikowska M., Crosiers D., Clarke C.E., Facheris M.F., Farrer M., Garraux G., Gispert S., Auburger G., Vilariño-Güell C., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Jeon B.S., Jamrozik Z., Krygowska-Wajs A., Lesage S., Lill C.M., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Libioulle C., Murata M., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Meitnger T., Zimprich A., Opala G., Pramstaller P.P., Pichler I., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Satake W., Silburn P.A., Strom T.M., Theuns J., Tan E.K., Toda T., Tomiyama H., Uitti R.J., Van Broeckhoven C., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yomono H.S., Yueh K.-C., Zhao Y., Gasser T., Maraganore D., Krüger R.
Published 2018

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

by Goodrich, Julia K., Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B., Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A., Dahl, Andy, Aguilar-Salinas, Carlos A., Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Centeno-Cruz, Federico, Chambers, John C., Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A., Duggirala, Ravindranath, Dupuis, Josee, Eugenia Garay-Sevilla, Ma, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Elena Gonzalez, Ma, Grarup, Niels, Groop, Leif, Gross, Myron, Haiman, Christopher, Han, Sohee, Hanis, Craig L., Hansen, Torben, Heard-Costa, Nancy L., Henderson, Brian E., Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E., Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A., Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M., Linneberg, Allan, Liu, Jianjun, Loos, Ruth J. F., Lyssenko, Valeriya, Ma, Ronald C. W., Martínez-Hernández, Angélica, Meigs, James B., Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morris, Andrew D., Morrison, Alanna C., Ng, Maggie C. Y., Nilsson, Peter M., O’Donnell, Christopher J., Orozco, Lorena, Palmer, Colin N. A., Park, Kyong Soo, Post, Wendy S., Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M., Reiner, Alexander P., Revilla-Monsalve, Cristina, Rich, Stephen S., Rotter, Jerome I., Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, Small, Kerrin S., So, Wing Yee, Spector, Timothy D., Strauch, Konstantin, Strom, Tim M., Tai, E. Shyong, Tam, Claudia H. T., Teo, Yik Ying, Thameem, Farook, Tomlinson, Brian, Tracy, Russell P., Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Teresa, van Dam, Rob M., Vasan, Ramachandran S., Wilson, James G., Witte, Daniel R., Wong, Tien-Yin, Burtt, Noel P., Zaitlen, Noah, McCarthy, Mark I., Boehnke, Michael, Pollin, Toni I., Flannick, Jason, Mercader, Josep M., O’Donnell-Luria, Anne, Baxter, Samantha, Florez, Jose C., MacArthur, Daniel G., Udler, Miriam S.
Published 2022

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

by Mahajan A., SIM XUELING, Ng H.J., Manning A., Rivas M.A., Highland H.M., Locke A.E., Grarup N., Im H.K., Cingolani P., Flannick J., Fontanillas P., Fuchsberger C., Gaulton K.J., Teslovich T.M., Rayner N.W., Robertson N.R., Beer N.L., Rundle J.K., Bork-Jensen J., Ladenvall C., Blancher C., Buck D., Buck G., Burtt N.P., Gabriel S., Gjesing A.P., Groves C.J., Hollensted M., Huyghe J.R., Jackson A.U., Jun G., Justesen J.M., Mangino M., Murphy J., Neville M., Onofrio R., Small K.S., Stringham H.M., Syvänen A.-C., Trakalo J., Abecasis G., Bell G.I., Blangero J., Cox N.J., Duggirala R., Hanis C.L., Seielstad M., Wilson J.G., Christensen C., Brandslund I., Rauramaa R., Surdulescu G.L., Doney A.S.F., Lannfelt L., Linneberg A., Isomaa B., Tuomi T., Jørgensen M.E., Jørgensen T., Kuusisto J., Uusitupa M., Salomaa V., Spector T.D., Morris A.D., Palmer C.N.A., Collins F.S., Mohlke K.L., Bergman R.N., Ingelsson E., Lind L., Tuomilehto J., Hansen T., Watanabe R.M., Prokopenko I., Dupuis J., Karpe F., Groop L., Laakso M., Pedersen O., Florez J.C., Morris A.P., Altshuler D., Meigs J.B., Boehnke M., McCarthy M.I., Lindgren C.M., Gloyn A.L., Abboud H.E., Afzal U., Aguilar D., Arya R., Atzmon G., Aung T., Banks E., Barroso I., Barzilai N., Below J.E., Bharadwaj D., Blackwell T.W., Bonnycastle L.L., Bowden D., Carey J., Carneiro M.O., Chambers J.C., Chan E., Chan J., Chandak G.R., Chen P., Chen Y., Chen H., Cheng C.-Y., Chia K.S., Cho Y.S., Correa A., Curran J.E., Daly M.J., Day-Williams A.G., DeFronzo R.A., DePristo M., Donnelly P.J., Ebrahim S.B., Elliott P., Esko T., Fadista J., Farjoun Y., Farmer A.J., Farook V.S., Fennell T., Ferreira T., Fingerlin T., Forsén T., Fowler S.P., Franks P.W., Frayling T.M., Freedman B.I., Froguel P., Gamazon E.R., Gieger C., Glaser B., Go M.J., Goldstein J.I., Grallert H., Grant G., Green T., Griswold M., Hale D.E., Han B.-G., Hartl C., Hattersley A.T., Hicks P.J., Hodgkiss D., Horikoshi M., Hrabé de Angelis M., Hu C., Hu F.B., Huh I., Kamran Ikram M., Illig T., Jablonski K.A., Jenkinson C.P., Jia W., Kang H.M., Khor C.-C., Kim Y., Kim Y.J., Kim B.-J., Kinnunen L., Kooner J.S., Kravic J., Kriebel J., Kumar A., Kumar S., Kuulasmaa T., Kwon M.-S., Langenberg C., Lauritzen T., Lee S., Lee J., Lee J., Lee J.-Y., Lehman D.M., Lehne B., Levy J.C., Li J., Liang L., Lim W.Y., Lin K.-H., Liu J., Loh M., Ma R.C.W., Ma C., Mägi R., Maguire J., Maxwell T.J., McVean G., Meisinger C., Meitinger T., Melander O., Metspalu A., Mihailov E., Milani L., Moutsianas L., Müller-Nurasyid M., K. Musani S., Nagai Y., Narisu N., Neale B.M., Ng M.C.Y., Nilsson P., O'Rahilly S.P., Orho-Melander M., Owen K.R., Palmer N.D., Park T., Pasko D., Pearson R.D., Perry J.R.B., Peters A., Pollin T.I., Poplin R., Prabhakaran D., Puppala S., Purcell S., Qi L., Qi Q., Roden M., Rolandsson O., Rosengren A.H., Sandhu M., Schwarzmayr T., Scott L.J., Scott R.A., Scott J., Scott W.R., Sehmi J., Shakir K., Sladek R., Smith J.D., Stancáková A., Strauch K., Strom T.M., Swift A., Tai E.S., Tajes J.F., Tan S.-T., Tandon N., Taylor H.A., Jr., Teo Y.Y., Thameem F., Thorand B., van de Bunt M., Varga T.V., Walker M., Wareham N.J., Welch R.P., Wieland T., Wilson G., Sr., Wong T.Y., Wood A.R., Yoon J., Zeggini E., Zhang W.
Published 2018