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

Insights from the Biorepository and Integrative Genomics pediatric resource

来自生物样本库和整合基因组学儿科资源的见解

Buonaiuto, Silvia; Marsico, Franco; Mohammed, Akram; Chinthala, Lokesh K; Amos-Abanyie, Ernestine K; Prins, Pjotr; Mozhui, Khyobeni; Rooney, Robert J; Williams, Robert W; Davis, Robert L; Finkel, Terri H; Brown, Chester W; Colonna, Vincenza

The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort

生物样本库和整合基因组学资源促进包容性基因组学:来自多样化儿科和混合队列的见解

Buonaiuto, Silvia; Marsico, Franco; Mohammed, Akram; Chinthala, Lokesh K; Amos-Abanyie, Ernestine K; Prins, Pjotr; Mozhui, Kyobeni; Rooney, Robert J; Williams, Robert W; Davis, Robert L; Finkel, Terri H; Brown, Chester W; Colonna, Vincenza

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

全基因组测序对疑似遗传病急性病婴临床管理的影响:一项随机临床试验

Krantz, Ian D; Medne, Livija; Weatherly, Jamila M; Wild, K Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P; Abdul-Rahman, Omar; Euteneuer, Joshua C; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adam J; Vargas-Shiraishi, Ofelia M; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A; Baldridge, Dustin; Cole, F Sessions; Wegner, Daniel J; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J; Pivnick, Eniko K; Ward, Jewell C; Talati, Ajay; Brown, Chester W; Belmont, John W; Ortega, Julia L; Robinson, Keisha D; Brocklehurst, W Tyler; Perry, Denise L; Ajay, Subramanian S; Hagelstrom, R Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J

Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression

未比对的外显子组测序结果提示环状病毒科在儿童HIV-1长期非进展中发挥作用

Mwesigwa, Savannah; Williams, Lesedi; Retshabile, Gaone; Katagirya, Eric; Mboowa, Gerald; Mlotshwa, Busisiwe; Kyobe, Samuel; Kateete, David P; Wampande, Eddie Mujjwiga; Wayengera, Misaki; Mpoloka, Sununguko Wata; Mirembe, Angella N; Kasvosve, Ishmael; Morapedi, Koketso; Kisitu, Grace P; Kekitiinwa, Adeodata R; Anabwani, Gabriel; Joloba, Moses L; Matovu, Enock; Mulindwa, Julius; Noyes, Harry; Botha, Gerrit; Brown, Chester W; Mardon, Graeme; Matshaba, Mogomotsi; Hanchard, Neil A

Exome Sequencing Reveals a Putative Role for HLA-C*03:02 in Control of HIV-1 in African Pediatric Populations

外显子组测序揭示HLA-C*03:02在非洲儿童人群中控制HIV-1感染的潜在作用

Kyobe, Samuel; Mwesigwa, Savannah; Kisitu, Grace P; Farirai, John; Katagirya, Eric; Mirembe, Angella N; Ketumile, Lesego; Wayengera, Misaki; Katabazi, Fred Ashaba; Kigozi, Edgar; Wampande, Edward M; Retshabile, Gaone; Mlotshwa, Busisiwe C; Williams, Lesedi; Morapedi, Koketso; Kasvosve, Ishmael; Kyosiimire-Lugemwa, Jacqueline; Nsangi, Betty; Tsimako-Johnstone, Masego; Brown, Chester W; Joloba, Moses; Anabwani, Gabriel; Bhekumusa, Lukhele; Mpoloka, Sununguko W; Mardon, Graeme; Matshaba, Mogomotsi; Kekitiinwa, Adeodata; Hanchard, Neil A

Obesity-Linked PPARγ S273 Phosphorylation Promotes Insulin Resistance through Growth Differentiation Factor 3

肥胖相关的PPARγ S273磷酸化通过生长分化因子3促进胰岛素抵抗

Jessica A Hall ,Deepti Ramachandran ,Hyun C Roh ,Joanna R DiSpirito ,Thiago Belchior ,Peter-James H Zushin ,Colin Palmer ,Shangyu Hong ,Amir I Mina ,Bingyang Liu ,Zhaoming Deng ,Pratik Aryal ,Christopher Jacobs ,Danielle Tenen ,Chester W Brown ,Julia F Charles ,Gerald I Shulman ,Barbara B Kahn ,Linus T Y Tsai ,Evan D Rosen ,Bruce M Spiegelman ,Alexander S Banks

Obesity-Linked PPARγ S273 Phosphorylation Promotes Insulin Resistance through Growth Differentiation Factor 3

肥胖相关的PPARγ S273磷酸化通过生长分化因子3促进胰岛素抵抗

Jessica A Hall,Deepti Ramachandran,Hyun C Roh,Joanna R DiSpirito,Thiago Belchior,Peter-James H Zushin,Colin Palmer,Shangyu Hong,Amir I Mina,Bingyang Liu,Zhaoming Deng,Pratik Aryal,Christopher Jacobs,Danielle Tenen,Chester W Brown,Julia F Charles,Gerald I Shulman,Barbara B Kahn,Linus T Y Tsai,Evan D Rosen,Bruce M Spiegelman,Alexander S Banks

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

CYFIP2基因(编码胞质FMRP相互作用蛋白2)中新发变异的空间聚集会导致智力障碍和癫痫发作。

Zweier, Markus; Begemann, Anaïs; McWalter, Kirsty; Cho, Megan T; Abela, Lucia; Banka, Siddharth; Behring, Bettina; Berger, Andrea; Brown, Chester W; Carneiro, Maryline; Chen, Jiani; Cooper, Gregory M; Finnila, Candice R; Guillen Sacoto, Maria J; Henderson, Alex; Hüffmeier, Ulrike; Joset, Pascal; Kerr, Bronwyn; Lesca, Gaetan; Leszinski, Gloria S; McDermott, John Henry; Meltzer, Meira R; Monaghan, Kristin G; Mostafavi, Roya; Õunap, Katrin; Plecko, Barbara; Powis, Zöe; Purcarin, Gabriela; Reimand, Tiia; Riedhammer, Korbinian M; Schreiber, John M; Sirsi, Deepa; Wierenga, Klaas J; Wojcik, Monica H; Papuc, Sorina M; Steindl, Katharina; Sticht, Heinrich; Rauch, Anita

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7基因的新生错义突变会导致发育迟缓、先天性异常和畸形特征

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia