Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
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
Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.
Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Data on genetic associations of carotid atherosclerosis markers in Mexican American and European American rheumatoid arthritis subjects.
Data In Brief
Arya, Rector R; Escalante, Agustin A; Farook, Vidya S VS; Restrepo, Jose F JF; Battafarano, Daniel F DF; Almeida, Marcio M; Kos, Mark Z MZ; Fourcaudot, Marcel J MJ; Mummidi, Srinivas S; Kumar, Satish S; Curran, Joanne E JE; Jenkinson, Christopher P CP; Blangero, John J; Duggirala, Ravindranath R; Del Rincon, Inmaculada I
A genetic association study of carotid intima-media thickness (CIMT) and plaque in Mexican Americans and European Americans with rheumatoid arthritis.
Atherosclerosis
Arya, Rector R; Escalante, Agustin A; Farook, Vidya S VS; Restrepo, Jose F JF; Battafarano, Daniel F DF; Almeida, Marcio M; Kos, Mark Z MZ; Fourcaudot, Marcel J MJ; Mummidi, Srinivas S; Kumar, Satish S; Curran, Joanne E JE; Jenkinson, Christopher P CP; Blangero, John J; Duggirala, Ravindranath R; Del Rincon, Inmaculada I
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature
Lango Allen, Hana H; Estrada, Karol K; Lettre, Guillaume G; Berndt, Sonja I SI; Weedon, Michael N MN; Rivadeneira, Fernando F; Willer, Cristen J CJ; Jackson, Anne U AU; Vedantam, Sailaja S; Raychaudhuri, Soumya S; Ferreira, Teresa T; Wood, Andrew R AR; Weyant, Robert J RJ; Segrè, Ayellet V AV; Speliotes, Elizabeth K EK; Wheeler, Eleanor E; Soranzo, Nicole N; Park, Ju-Hyun JH; Yang, Jian J; Gudbjartsson, Daniel D; Heard-Costa, Nancy L NL; Randall, Joshua C JC; Qi, Lu L; Vernon Smith, Albert A; Mägi, Reedik R; Pastinen, Tomi T; Liang, Liming L; Heid, Iris M IM; Luan, Jian'an J; Thorleifsson, Gudmar G; Winkler, Thomas W TW; Goddard, Michael E ME; Sin Lo, Ken K; Palmer, Cameron C; Workalemahu, Tsegaselassie T; Aulchenko, Yurii S YS; Johansson, Asa A; Zillikens, M Carola MC; Feitosa, Mary F MF; Esko, Tõnu T; Johnson, Toby T; Ketkar, Shamika S; Kraft, Peter P; Mangino, Massimo M; Prokopenko, Inga I; Absher, Devin D; Albrecht, Eva E; Ernst, Florian F; Glazer, Nicole L NL; Hayward, Caroline C; 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