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2012 1
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Page 1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Lawson Criterion for Ignition Exceeded in an Inertial Fusion Experiment.
Abu-Shawareb H, Acree R, Adams P, Adams J, Addis B, Aden R, Adrian P, Afeyan BB, Aggleton M, Aghaian L, Aguirre A, Aikens D, Akre J, Albert F, Albrecht M, Albright BJ, Albritton J, Alcala J, Alday C, Alessi DA, Alexander N, Alfonso J, Alfonso N, Alger E, Ali SJ, Ali ZA, Alley WE, Amala P, Amendt PA, Amick P, Ammula S, Amorin C, Ampleford DJ, Anderson RW, Anklam T, Antipa N, Appelbe B, Aracne-Ruddle C, Araya E, Arend M, Arnold P, Arnold T, Asay J, Atherton LJ, Atkinson D, Atkinson R, Auerbach JM, Austin B, Auyang L, Awwal AS, Ayers J, Ayers S, Ayers T, Azevedo S, Bachmann B, Back CA, Bae J, Bailey DS, Bailey J, Baisden T, Baker KL, Baldis H, Barber D, Barberis M, Barker D, Barnes A, Barnes CW, Barrios MA, Barty C, Bass I, Batha SH, Baxamusa SH, Bazan G, Beagle JK, Beale R, Beck BR, Beck JB, Bedzyk M, Beeler RG, Beeler RG, Behrendt W, Belk L, Bell P, Belyaev M, Benage JF, Bennett G, Benedetti LR, Benedict LX, Berger R, Bernat T, Bernstein LA, Berry B, Bertolini L, Besenbruch G, Betcher J, Bettenhausen R, Betti R, Bezzerides B, Bhandarkar SD, Bickel R, Biener J, Biesiada T, Bigelow K, Bigelow-Granillo J, Bigman V, Bionta RM, Birge NW, Bitter M, Black AC, Bleile R, Bleuel DL, Bliss E,… See abstract for full author list ➔ Abu-Shawareb H, et al. Phys Rev Lett. 2022 Aug 12;129(7):075001. doi: 10.1103/PhysRevLett.129.075001. Phys Rev Lett. 2022. PMID: 36018710
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302
Achievement of Target Gain Larger than Unity in an Inertial Fusion Experiment.
Abu-Shawareb H, Acree R, Adams P, Adams J, Addis B, Aden R, Adrian P, Afeyan BB, Aggleton M, Aghaian L, Aguirre A, Aikens D, Akre J, Albert F, Albrecht M, Albright BJ, Albritton J, Alcala J, Alday C, Alessi DA, Alexander N, Alfonso J, Alfonso N, Alger E, Ali SJ, Ali ZA, Allen A, Alley WE, Amala P, Amendt PA, Amick P, Ammula S, Amorin C, Ampleford DJ, Anderson RW, Anklam T, Antipa N, Appelbe B, Aracne-Ruddle C, Araya E, Archuleta TN, Arend M, Arnold P, Arnold T, Arsenlis A, Asay J, Atherton LJ, Atkinson D, Atkinson R, Auerbach JM, Austin B, Auyang L, Awwal AAS, Aybar N, Ayers J, Ayers S, Ayers T, Azevedo S, Bachmann B, Back CA, Bae J, Bailey DS, Bailey J, Baisden T, Baker KL, Baldis H, Barber D, Barberis M, Barker D, Barnes A, Barnes CW, Barrios MA, Barty C, Bass I, Batha SH, Baxamusa SH, Bazan G, Beagle JK, Beale R, Beck BR, Beck JB, Bedzyk M, Beeler RG, Beeler RG, Behrendt W, Belk L, Bell P, Belyaev M, Benage JF, Bennett G, Benedetti LR, Benedict LX, Berger RL, Bernat T, Bernstein LA, Berry B, Bertolini L, Besenbruch G, Betcher J, Bettenhausen R, Betti R, Bezzerides B, Bhandarkar SD, Bickel R, Biener J, Biesiada T, Bigelow K, Bigelow-Granillo J, Bigman V, Bionta RM, Birge NW, Bit… See abstract for full author list ➔ Abu-Shawareb H, et al. Phys Rev Lett. 2024 Feb 9;132(6):065102. doi: 10.1103/PhysRevLett.132.065102. Phys Rev Lett. 2024. PMID: 38394591
Cardiovascular Efficacy and Safety of Bococizumab in High-Risk Patients.
Ridker PM, Revkin J, Amarenco P, Brunell R, Curto M, Civeira F, Flather M, Glynn RJ, Gregoire J, Jukema JW, Karpov Y, Kastelein JJP, Koenig W, Lorenzatti A, Manga P, Masiukiewicz U, Miller M, Mosterd A, Murin J, Nicolau JC, Nissen S, Ponikowski P, Santos RD, Schwartz PF, Soran H, White H, Wright RS, Vrablik M, Yunis C, Shear CL, Tardif JC; SPIRE Cardiovascular Outcome Investigators. Ridker PM, et al. N Engl J Med. 2017 Apr 20;376(16):1527-1539. doi: 10.1056/NEJMoa1701488. Epub 2017 Mar 17. N Engl J Med. 2017. PMID: 28304242 Free article. Clinical Trial.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. Barish S, et al. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232675 Free PMC article.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.
16 results