日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia

ACAA2基因的一种复发性变异会导致一种显性遗传综合征,其特征为脂肪营养不良、脂肪瘤病、婴儿脂肪性肝炎和低血糖症。

Simha, Vinaya; LoPiccolo, Mary Kate; Platt, Anna; Brown, Rebecca J; Johnson, Xandria; Carere, Deanna Alexis; Donnelly, Colleen; Snyder, Matthew T; Xing, Chao; Mathews, Thomas P; Gopal, Purva; Ward, Stephen C; Tomchick, Diana R; Agarwal, Anil K; DeBerardinis, Ralph J; Garg, Abhimanyu

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Vahidi Mehrjardi, Mohammad Yahya; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W; Maroofian, Reza

DSOF: A Rapid Method to Determine the Abundance of Microalgae and Methanotrophic Bacteria in Coculture Using a Combination of Differential Sedimentation, Optical Density, and Fluorescence

DSOF:一种结合差示沉降、光密度和荧光法快速测定共培养体系中微藻和甲烷氧化菌丰度的方法

Cartin-Caballero, Carlos; Collet, Christophe; Gapes, Daniel; Gostomski, Peter A; Stott, Matthew B; Carere, Carlo R

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies

神经发育和先天性异常患者中RUNX1T1基因的种系新生突变

Aref-Eshghi, Erfan; Anderson, Katherine J; Boulay, Lauren; Brown, Kathleen; Duis, Jessica; Giummo, Christine A; Ogawa, Jessica; Carere, Deanna Alexis; Normand, Elizabeth A; Qian, Yaping; McWalter, Kirsty; Torti, Erin

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

在患有多种先天性异常和发育迟缓的个体中,发现了ARHGEF40基因p.Arg225位点的错义变异

Napier, Melanie P; Ryan, Erin; Reich, Adi; Suhl, Joshua A; Masser-Frye, Diane; Jones, Marilyn; Beaudreau, Celese; Robin, Nathaniel; Goodloe, Dana; Folk, Leandra; Morrow, Michelle M; Carere, Deanna Alexis

A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

在患有巨头畸形、智力障碍和癫痫的个体中发现了一种 PPP2R5C 的复发性变异

Muir, Alison M; Reich, Adi; Zou, Fanggeng; Carere, Deanna Alexis; Harasink, Sue Moyer; Tran, Lily; McGivern, Bobbi

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies

PHACTR4 RPEL3 结构域中新生错义变异与重叠的先天性异常有关

Torti, Erin; Mullegama, Sureni V; De Bie, Isabelle; Mercier, Angelique; Carere, Deanna Alexis; Folk, Leandra; Juusola, Jane; Monaghan, Kristin G; Wentzensen, Ingrid M; Redlich, Olivia L; Reich, Adi; McGivern, Bobbi

Predator cues and environmental complexity shape the behaviour and life history of juvenile lobsters (Homarus gammarus)

捕食者线索和环境复杂性塑造了幼年龙虾(Homarus gammarus)的行为和生活史。

Polverino, Giovanni; Latini, Lorenzo; Nascetti, Giuseppe; Grignani, Giacomo; Bello, Eleonora; Gili, Claudia; Carere, Claudio; Canestrelli, Daniele