The conservation of human functional variants and their effects across livestock species.
Communications Biology
Zhao, Rongrong R; Talenti, Andrea A; Fang, Lingzhao L; Liu, Shuli S; Liu, George G; Chue Hong, Neil P NP; Tenesa, Albert A; Hassan, Musa M; Prendergast, James G D JGD
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Communications Biology
Choquet, Hélène H; Melles, Ronald B RB; Yin, Jie J; Hoffmann, Thomas J TJ; Thai, Khanh K KK; Kvale, Mark N MN; Banda, Yambazi Y; Hardcastle, Alison J AJ; Tuft, Stephen J SJ; Glymour, M Maria MM; Schaefer, Catherine C; Risch, Neil N; Nair, K Saidas KS; Hysi, Pirro G PG; Jorgenson, Eric E
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ