Most Recent Additions*
Impact and characterization of serial structural variations across humans and great apes.
Wolfram Höps, Tobias Rausch, Michael Jendrusch, Jan O Korbel, and Fritz J Sedlazeck
Autoregulated splicing of TRA2β programs T cell fate in response to antigen-receptor stimulation
Timofey A Karginov, Antoine Ménoret, Nathan Leclair, Andrew G Harrison, Karthik Chandiran, Jenny E Suarez-Ramirez, Marina Yurieva, Keaton Karlinsey, Penghua Wang, Rachel J O'Neill, Patrick A Murphy, Adam J Adler, Linda S Cauley, Olga Anczuków, Beiyan Zhou, and Anthony T Vella
Development of New Diffuse Large B Cell Lymphoma Mouse Models.
Syed Hassan Mehdi, Ying-Zhi Xu, Leonard D. Shultz, Eunkyung Kim, Yong Gu Lee, Samantha Kendrick, and Donghoon Yoon
Single-cell and bulk transcriptional profiling of mouse ovaries reveals novel genes and pathways associated with DNA damage response in oocytes.
Monique Mills, Chihiro Emori, Parveen Kumar, Zachary Boucher, Joshy George, and Ewelina Bolcun-Filas
Enhlink infers distal and context-specific enhancer-promoter linkages.
Olivier Poirion, Wulin Zuo, Catrina Spruce, Candice N Baker, Sandra Daigle, Ashley A Olson, Daniel A Skelly, Elissa J Chesler, Christopher L. Baker, and Brian S White
Advancing Genomic Cancer Medicine in Rural and Underserved States.
Jens Rueter and Edison Liu
Oncostatin M receptor-dependent signaling assessed by RNA sequencing in mouse hematopoietic stem cells.
Logan S Schwartz, Ruth L. Saxl, Timothy M Stearns, Maria Telpoukhovskaia, and Jennifer J. Trowbridge
Closing the gap: using the ECHO model to improve access to hereditary colorectal cancer risk assessment and genetic counseling in the rural setting
Stephanie Sharp, Linda Steinmark, Emily A Edelman, Kate Reed, Kelly Barnes, and Susan Miesfeldt
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
Clara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J M Jans, Timo Lassmann, Mary Catherine V Letinturier, Stephen B Montgomery, Peter N Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, and Bekim Sadikovic
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M Molster, Lucia Monaco, Carmencita D Padilla, Anne R Pariser, Peter N Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, and Flaminia Macchia
Adducin Regulates Sarcomere Disassembly During Cardiomyocyte Mitosis.
Feng Xiao, Ngoc Uyen Nhi Nguyen, Ping Wang, Shujuan Li, Ching-Cheng Hsu, Suwannee Thet, Wataru Kimura, Xiang Luo, Nicholas T Lam, Ivan Menendez-Montes, Waleed M Elhelaly, Alisson Campos Cardoso, Ana Helena Macedo Pereira, Rohit Singh, Sakthivel Sadayappan, Mohammed Kanchwala, Chao Xing, Feria A Ladha, J Travis Hinson, Roger J Hajjar, Joseph A Hill, and Hesham A Sadek
A cochlear progenitor pool influences patterning of the mammalian sensory epithelium via MYBL2.
Caryl A Young, Emily Burt, and Vidhya Munnamalai
Transcription factor AP-2 gamma affects porcine early embryo development by regulating epigenetic modification.
Daoyu Zhang, Di Wu, Sheng Zhang, Meng Zhang, Yongfeng Zhou, Xinglan An, Qi Li, and Ziyi Li
Per- and polyfluoroalkyl substances (PFAS) and cancer: Detection methodologies, epidemiological insights, potential carcinogenic mechanisms, and future perspectives.
Jie Zheng, Sheng Liu, Junjie Yang, Shujian Zheng, and Boshi Sun
Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier.
Timothy L Cowan, John P Sundberg, Derry C. Roopenian, Thomas J. Sproule, and Dédée F Murrell
A C-terminal motif containing a PKC phosphorylation site regulates γ-Protocadherin-mediated dendrite arborization in the cerebral cortex in vivo.
Camille M Hanes, Kar Men Mah, David M Steffen, Cathy M McLeod, Charles G Marcucci, Leah C Fuller, Robert W. Burgess, Andrew M Garrett, and Joshua A Weiner
A systematic strategy for identifying causal single nucleotide polymorphisms and their target genes on Juvenile arthritis risk haplotypes.
Kaiyu Jiang, Tao Liu, Susan Kales, Ryan Tewhey, Dongkyeong Kim, Yungki Park, and James N Jarvis
B cells in perivascular and peribronchiolar granuloma-associated lymphoid tissue and B-cell signatures identify asymptomatic
Deniz Koyuncu, Thomas Tavolara, Daniel Mario Gatti, Adam C Gower, Melanie L Ginese, Igor Kramnik, Bülent Yener, Usama Sajjad, Muhammad Khalid Khan Niazi, Metin Gurcan, Anas Alsharaydeh, and Gillian Beamer
David J. Glass elected to the U.S. National Academy of Sciences.
Se-Jin Lee, Bruce Spiegelman, and Kevin Campbell
*Updated as of 11/20/24.