Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
BLOOD (2013)
期刊
BLOOD
卷 122, 期 23, 页码 3845-3847出版社
AMER SOC HEMATOLOGY
关键词
类别
作者
我是这篇论文的作者
推荐
Chromosome-level genome assembly of goose provides insight into the adaptation and growth of local goose breeds
Qiqi Zhao, Zhenping Lin, Junpeng Chen, Zi Xie, Jun Wang, Keyu Feng, Wencheng Lin, Hongxin Li, Zezhong Hu, Weiguo Chen, Feng Chen, Muhammad Junaid, Huanmin Zhang, Qingmei Xie, Xinheng Zhang
GIGASCIENCE (2023)
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Jack M. Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine R. Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian H. Y. Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz-Picciotto, Patricia Maciel, Dara S. Manoach, Maria Rita Passos-Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele Campos, Simona Cardaropoli, Diana Carli, Marcus C. Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret Pericak-Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia I. S. Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H. C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan J. Sanders, Michael E. Talkowski
NATURE GENETICS (2022)
The chromosome-scale assembly of the Salvia rosmarinus genome provides insight into carnosic acid biosynthesis
Danlu Han, Wenliang Li, Zhuangwei Hou, Chufang Lin, Yun Xie, Xiaofang Zhou, Yuan Gao, Junwen Huang, Jianbin Lai, Li Wang, Liangsheng Zhang, Chengwei Yang
PLANT JOURNAL (2023)
The genome of Shanputao (Vitis amurensis) provides a new insight into cold tolerance of grapevine
Yi Wang, Haiping Xin, Peige Fan, Jisen Zhang, Yongbo Liu, Yang Dong, Zemin Wang, Yingzhen Yang, Qing Zhang, Ray Ming, Gan-Yuan Zhong, Shaohua Li, Zhenchang Liang
PLANT JOURNAL (2021)
Structural Variation of Plastomes Provides Key Insight Into the Deep Phylogeny of Ferns
Xin-Yu Du, Li-Yaung Kuo, Zheng-Yu Zuo, De-Zhu Li, Jin-Mei Lu
FRONTIERS IN PLANT SCIENCE (2022)
The Chromosome-Scale Assembly of the Curcuma alismatifolia Genome Provides Insight Into Anthocyanin and Terpenoid Biosynthesis
Qing Dong, Qing-Cheng Zou, Li-Hui Mao, Dan-Qing Tian, Wei Hu, Xue-Rui Cao, Hua-Qiao Ding
FRONTIERS IN PLANT SCIENCE (2022)
Genus-Wide Characterization of Bumblebee Genomes Provides Insights into Their Evolution and Variation in Ecological and Behavioral Traits
Cheng Sun, Jiaxing Huang, Yun Wang, Xiaomeng Zhao, Long Su, Gregg W. C. Thomas, Mengya Zhao, Xingtan Zhang, Irwin Jungreis, Manolis Kellis, Saverio Vicario, Igor Sharakhov, Semen M. Bondarenko, Martin Hasselmann, Chang N. Kim, Benedict Paten, Luca Penso-Dolfin, Li Wang, Yuxiao Chang, Qiang Gao, Ling Ma, Lina Ma, Zhang Zhang, Hongbo Zhang, Huahao Zhang, Livio Ruzzante, Hugh M. Robertson, Yihui Zhu, Yanjie Liu, Huipeng Yang, Lele Ding, Quangui Wang, Dongna Ma, Weilin Xu, Cheng Liang, Michael W. Itgen, Lauren Mee, Gang Cao, Ze Zhang, Ben M. Sadd, Matthew W. Hahn, Sarah Schaack, Seth M. Barribeau, Paul H. Williams, Robert M. Waterhouse, Rachel Lockridge Mueller
MOLECULAR BIOLOGY AND EVOLUTION (2021)
Genome Sequencing of Amomum tsao-ko Provides Novel Insight Into Its Volatile Component Biosynthesis
Fenghui Sun, Chaochao Yan, Yunyun Lv, Zhonghui Pu, Zedong Liao, Wei Guo, Min Dai
FRONTIERS IN PLANT SCIENCE (2022)
The Jasmine (Jasminum sambac) Genome Provides Insight into the Biosynthesis of Flower Fragrances and Jasmonates
Gang Chen, Salma Mostafa, Zhaogeng Lu, Ran Du, Jiawen Cui, Yun Wang, Qinggang Liao, Jinkai Lu, Xinyu Mao, Bang Chang, Quan Gan, Li Wang, Zhichao Jia, Xiulian Yang, Yingfang Zhu, Jianbin Yan, Biao Jin
GENOMICS PROTEOMICS & BIOINFORMATICS (2023)
A near-complete assembly of asparagus bean provides insights into anthocyanin accumulation in pods
Yi Yang, Zhikun Wu, Zengxiang Wu, Tinyao Li, Zhuo Shen, Xuan Zhou, Xinyi Wu, Guojing Li, Yan Zhang
PLANT BIOTECHNOLOGY JOURNAL (2023)
Dodecaploid Xenopus longipes provides insight into the emergence of size scaling relationships during development
Kelly E. Miller, Clotilde Cadart, Rebecca Heald
CURRENT BIOLOGY (2023)
The genome of the extremophile Artemia provides insight into strategies to cope with extreme environments
Stephanie De Vos, Stephane Rombauts, Louis Coussement, Wannes Dermauw, Marnik Vuylsteke, Patrick Sorgeloos, James S. Clegg, Ziro Nambu, Filip Van Nieuwerburgh, Parisa Norouzitallab, Thomas Van Leeuwen, Tim De Meyer, Gilbert Van Stappen, Yves Van de Peer, Peter Bossier
BMC GENOMICS (2021)
Chromosome-level genome assembly of the Muscovy duck provides insight into fatty liver susceptibility
Ming-Min Xu, Li-Hong Gu, Wan-Yue Lv, Sheng-Chang Duan, Lian-Wei Li, Yuan Du, Li-Zhi Lu, Tao Zeng, Zhuo-Cheng Hou, Zhanshan Sam Ma, Wei Chen, Adeniyi C. Adeola, Jian-Lin Han, Tie-Shan Xu, Yang Dong, Ya-Ping Zhang, Min-Sheng Peng
GENOMICS (2022)
Analysis of complete chloroplast genome sequences and insight into the phylogenetic relationships of Ferula L
Lei Yang, Ozodbek Abduraimov, Komiljon Tojibaev, Khabibullo Shomurodov, Yuan-Ming Zhang, Wen-Jun Li
BMC GENOMICS (2022)
The Visayan Warty Pig (Sus cebifrons) Genome Provides Insight Into Chromosome Evolution and Sensory Adaptation in Pigs
Langqing Liu, Hendrik-Jan Megens, Richard P. M. A. Crooijmans, Mirte Bosse, Qitong Huang, Linda van Sonsbeek, Martien A. M. Groenen, Ole Madsen
MOLECULAR BIOLOGY AND EVOLUTION (2022)
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma (vol 21, pg 1359, 2020)
Hani Harb, Emmanuel Stephen-Victor, Elena Crestani, Mehdi Benamar, Amir Massoud, Ye Cui, Louis-Marie Charbonnier, Sena Arbag, Safa Baris, Amparito Cunnigham, Juan Manuel Leyva-Castillo, Raif S. Geha, Amirhosein J. Mousavi, Boris Guennewig, Klaus Schmitz-Abe, Constantinos Sioutas, Wanda Phipatanakul, Talal A. Chatila
NATURE IMMUNOLOGY (2021)
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections
Hani Harb, Mehdi Benamar, Peggy S. Lai, Paola Contini, Jason W. Griffith, Elena Crestani, Klaus Schmitz-Abe, Qian Chen, Jason Fong, Luca Marri, Gilberto Filaci, Genny Del Zotto, Novalia Pishesha, Stephen Kolifrath, Achille Broggi, Sreya Ghosh, Metin Yusuf Gelmez, Fatma Betul Oktelik, Esin Aktas Cetin, Ayca Kiykim, Murat Kose, Ziwei Wang, Ye Cui, Xu G. Yu, Jonathan Z. Li, Lorenzo Berra, Emmanuel Stephen-Victor, Louis-Marie Charbonnier, Ivan Zanoni, Hidde Ploegh, Gunnur Deniz, Raffaele De Palma, Talal A. Chatila
IMMUNITY (2021)
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma (vol 21, pg 1359, 2020)
Hani Harb, Emmanuel Stephen-Victor, Elena Crestani, Mehdi Benamar, Amir Massoud, Ye Cui, Louis-Marie Charbonnier, Sena Arbag, Safa Baris, Amparito Cunnigham, Juan Manuel Leyva-Castillo, Raif S. Geha, Amirhosein J. Mousavi, Boris Guennewig, Klaus Schmitz-Abe, Constantinos Sioutas, Wanda Phipatanakul, Talal A. Chatila
NATURE IMMUNOLOGY (2021)
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Burcu Kolukisa, Dilek Baser, Bengu Akcam, Jeffrey Danielson, Sevgi Bilgic Eltan, Yesim Haliloglu, Asena Pinar Sefer, Royale Babayeva, Gamze Akgun, Louis-Marie Charbonnier, Klaus Schmitz-Abe, Yasemin Kendir Demirkol, Yu Zhang, Claudia Gonzaga-Jauregui, Raul Jimenez Heredia, Nurhan Kasap, Ayca Kiykim, Esra Ozek Yucel, Veysel Gok, Ekrem Unal, Aysenur Pac Kisaarslan, Serdar Nepesov, Gokhan Baysoy, Zerrin Onal, Gozde Yesil, Tulin Tiraje Celkan, Haluk Cokugras, Yildiz Camcioglu, Ahmet Eken, Kaan Boztug, Bernice Lo, Elif Karakoc-Aydiner, Helen C. Su, Ahmet Ozen, Talal A. Chatila, Safa Baris
ALLERGY (2022)
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Anna R. Duncan, Maya M. Polovitskaya, Hector Gaitan-Penas, Sara Bertelli, Grace E. VanNoy, Patricia E. Grant, Anne O'Donnell-Luria, Zaheer Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz-Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch-Hogrebe, Rami Abou Jamra, Juanita Neira-Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, Lorne Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raul Estevez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
Raffaele Renella, Katelyn Gagne, Ellen Beauchamp, Jonathan Fogel, Aleksej Perlov, Mireia Sola, Thorsten Schlaeger, Inga Hofmann, Akiko Shimamura, Benjamin L. Ebert, Klaus Schmitz-Abe, Kyriacos Markianos, Kristi Murphy, Liang Sun, Shira Rockowitz, Piotr Sliz, Dean R. Campagna, Timothy A. Springer, Christopher Bahl, Suneet Agarwal, Mark D. Fleming, David A. Williams
AMERICAN JOURNAL OF HEMATOLOGY (2022)
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher
Meghan C. Towne, Mari Rossi, Bess Wayburn, Jennifer M. Huang, Kelly Radtke, Wendy Alcaraz, Kelly D. Farwell Hagman, Deepali N. Shinde
HUMAN MUTATION (2022)
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
Boxun Zhao, Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao, Harrison Brand, Michael Talkowski, Eunjung Alice Lee, Pankaj B. Agrawal
EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis
Ye Cui, Mehdi Benamar, Klaus Schmitz-Abe, Varsha Poondi-Krishnan, Qian Chen, Bat-Erdene Jugder, Benoit Fatou, Jason Fong, Yuelin Zhong, Stuti Mehta, Altantsetseg Buyanbat, Beray Selver Eklioglu, Esra Karabiber, Safa Baris, Ayca Kiykim, Sevgi Keles, Emmanuel Stephen-Victor, Claudia Angelini, Louis-Marie Charbonnier, Talal A. Chatila
SCIENCE IMMUNOLOGY (2022)
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Qifei Li, Rohan Agrawal, Klaus Schmitz-Abe, Casie A. Genetti, Melissa A. Fernandes, Noah L. Fryou, Jill A. Madden, Catherine A. Brownstein, Edward C. Smith, Farrah Rajabi, Alan H. Beggs, Pankaj B. Agrawal
EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Safa Baris, Mehdi Benamar, Qian Chen, Mehmet Cihangir Catak, Monica Martinez-Blanco, Muyun Wang, Jason Fong, Michel J. Massaad, Asena Pinar Sefer, Altan Kara, Royala Babayeva, Sevgi Bilgic Eltan, Ayse Deniz Yucelten, Emine Bozkurtlar, Leyla Cinel, Elif Karakoc-Aydiner, Yumei Zheng, Hao Wu, Ahmet Ozen, Klaus Schmitz-Abe, Talal A. Chatila
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty
Julia Schiller, Meghan C. Towne, Rachel Epstein, Jennifer Karlin Thornton, Victoria Suslovitch
JOURNAL OF GENETIC COUNSELING (2023)
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Frances O. O. Flanagan, Alexander M. M. Holtz, Sara O. O. Vargas, Casie A. A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. C. Kennedy, Benjamin A. A. Raby, Mary P. P. Mullen, Martha P. P. Fishman, Pankaj B. B. Agrawal
NPJ GENOMIC MEDICINE (2023)
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children
Mehdi Benamar, Qian Chen, Janet Chou, Amelie M. Jule, Rafik Boudra, Paola Contini, Elena Crestani, Peggy S. Lai, Muyun Wang, Jason Fong, Shira Rockwitz, Pui Lee, Tsz Man Fion Chan, Ekin Zeynep Altun, Eda Kepenekli, Elif Karakoc-Aydiner, Ahmet Ozen, Perran Boran, Fatih Aygun, Pinar Onal, Ayse Ayzit Kilinc Sakalli, Haluk Cokugras, Metin Yusuf Gelmez, Fatma Betul Oktelik, Esin Aktas Cetin, Yuelin Zhong, Maria Lucia Taylor, Katherine Irby, Natasha B. Halasa, Elizabeth H. Mack, Sara Signa, Ignazia Prigione, Marco Gattorno, Nicola Cotugno, Donato Amodio, Raif S. Geha, Mary Beth Son, Jane Newburger, Pankaj B. Agrawal, Stefano Volpi, Paolo Palma, Ayca Kiykim, Adrienne G. Randolph, Gunnur Deniz, Safa Baris, Raffaele De Palma, Klaus Schmitz-Abe, Louis-Marie Charbonnier, Lauren A. Henderson, Talal A. Chatila, David A. Williams, Lucinda Williams, Myriam Armont, Leah Cheng
JOURNAL OF CLINICAL INVESTIGATION (2023)
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs
HUMAN GENETICS AND GENOMICS ADVANCES (2021)