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  1. 1.   Molecular and genetic characterization of sex-linked orange coat color in the domestic cat
  2. Kaelin, Christopher B; McGowan, Kelly A; Trotman, Joshaya C; Koroma, Donald C; David, Victor A; Menotti-Raymond, Marilyn; Graff, Emily C; Schmidt-Küntzel, Anne; Oancea, Elena; Barsh, Gregory S
  3. Current Biology : CB. 2025, May 12;
  1. 2.   CR1 variants contribute to FSGS susceptibility across multiple populations
  2. Skitchenko, Rostislav; Modrusan, Zora; Loboda, Alexander; Kopp, Jeffrey B; Winkler,Cheryl; Sergushichev, Alexey; Gupta, Namrata; Stevens, Christine; Daly, Mark J; Shaw, Andrey; Artomov, Mykyta
  3. iScience. 2025, Apr 18; 28(4): 112234.
  1. 3.   Repression of ZNFX1 by LncRNA ZFAS1 mediates tobacco-induced pulmonary carcinogenesis
  2. Xi, Sichuan; Shan, Jigui; Wu, Xinwei; Wang, Haitao; Zhang, Mary R; Oyetunji, Shakirat; Xu, Hong; Xiao, Zuoxiang; Tolunay, Tuana; Carr, Shamus R; Hoang, Chuong D; Schrump, David S
  3. Cellular & Molecular Biology Letters. 2025, Apr 10; 30(1): 44.
  1. 4.   Deletion of a single CTCF motif at the boundary of a chromatin domain with three FGF genes disrupts gene expression and embryonic development
  2. Chakraborty, Shreeta; Wenzlitschke, Nina; Anderson,Matthew; Eraso, Ariel; Baudic, Manon; Thompson, Joyce J; Evans, Alicia A; Shatford-Adams, Lilly M; Chari,Raj; Awasthi,Roackie; Dale, Ryan K; Lewandoski,Mark; Petros, Timothy J; Rocha, Pedro P
  3. Developmental Cell. 2025, Feb 24;
  1. 5.   Epigenetic associations with kidney disease in individuals of African ancestry with APOL1 high-risk genotypes and Human Immunodeficiency Virus
  2. Hung, Rachel K Y; Costeira, Ricardo; Chen, Junyu; Schlosser, Pascal; Grundner-Culemann, Franziska; Booth, John W; Sharpe, Claire C; Bramham, Kate; Sun, Yan V; Marconi, Vincent C; Teumer, Alexander; Winkler,Cheryl; Post, Frank A; Bell, Jordana T
  3. Nephrology, Dialysis, Transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2024, Oct 24;
  1. 6.   Frameshift mutation spectra overlap between constitutional mismatch repair deficiency tumors and Lynch syndrome tumors
  2. Song,Yurong; Baugher,Ryan; Young,Todd; Somerville,Brandon; Mori,Yuriko; Pinto,Ligia; Nichols, Kim E; Shoemaker, Robert H
  3. The Journal of Clinical Investigation. 2024, Oct 22;
  1. 7.   A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
  2. Vocke, Cathy D; Ricketts, Christopher J; Pack, Svetlana; Raffeld, Mark; Hewitt, Stephen; Lebensohn, Alexandra P; O'Brien, Lidenys; Gautam, Rabindra; Reynolds, Krista; Schmidt,Laura; Choo, Kristin; Kenigsberg, Alex; Gurram, Sandeep; Chew, Emily Y; Nilubol, Naris; Chittaboina, Prashant; Merino, Maria J; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2024, Sep 24;
  1. 8.   Multi-generational benefits of genetic rescue
  2. Onorato, Dave P; Cunningham, Mark W; Lotz, Mark; Criffield, Marc; Shindle, David; Johnson, Annette; Clemons, Bambi C F; Shea, Colin P; Roelke-Parker,Melody; Johnson, Warren E; McClintock, Brett T; Pilgrim, Kristine L; Schwartz, Michael K; Oli, Madan K
  3. Scientific reports. 2024, Jul 30; 14(1): 17519.
  1. 9.   African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations
  2. Breeze, Charles E; Lin, Bridget M; Winkler,Cheryl; Franceschini, Nora
  3. BMC Genomics. 2024, May 08; 25(1): 452.
  1. 10.   Polymorphic residues in HLA-B that mediate HIV control distinctly modulate peptide interactions with both TCR and KIR molecules
  2. Tano-Menka, Rhoda; Singh, Nishant K; Muzhingi, Itai; Li, Xiaolong; Mandanas, Michael V; Kaseke, Clarety; Crain, Charles R; Zhang, Angela; Ogunshola, Funsho J; Vecchiarello, Liza; Piechocka-Trocha, Alicja; Bashirova,Arman; Birnbaum, Michael E; Carrington,Mary; Walker, Bruce D; Gaiha, Gaurav D
  3. Structure (London, England : 1993). 2024, May 07;
  1. 11.   The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participants
  2. Mørup, Sara Bohnstedt; Leung, Preston; Reilly, Cavan; Sherman,Brad; Chang,Weizhong; Milojevic, Maja; Milinkovic, Ana; Liappis, Angelike; Borgwardt, Line; Petoumenos, Kathy; Paredes, Roger; Mistry, Shweta S; MacPherson, Cameron R; Lundgren, Jens; Helleberg, Marie; Reekie, Joanne; Murray, Daniel D
  3. AIDS Research and Therapy. 2024, May 03; 21(1): 27.
  1. 12.   Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans
  2. McQuillan, Michael A; Verhulst, Simon; Hansen, Matthew E B; Beggs, William; Meskel, Dawit Wolde; Belay, Gurja; Nyambo, Thomas; Mpoloka, Sununguko Wata; Mokone, Gaonyadiwe George; Fokunang, Charles; Njamnshi, Alfred K; Chanock, Stephen J; Aviv, Abraham; Tishkoff, Sarah A
  3. American Journal of Human Genetics. 2024, May 02; 111(5): 927-938.
  1. 13.   Specialized replication of heterochromatin domains ensures self-templated chromatin assembly and epigenetic inheritance
  2. Nathanailidou, Patroula; Dhakshnamoorthy, Jothy; Xiao, Hua; Zofall, Martin; Holla, Sahana; O'Neill,Maura; Andresson,Thorkell; Wheeler, David; Grewal, Shiv I S
  3. Proceedings of the National Academy of Sciences of the United States of America. 2024, Feb 06; 121(6): e2315596121.
  1. 14.   Radiation cataract in Heterogeneous Stock mice after gamma-ray or HZE ion exposure
  2. Kleiman, Norman J; Edmondson,Elijah; Weil, Michael M; Fallgren, Christina M; King, Adam; Schmidt, Catherine; Hall, Eric J
  3. Life Sciences in Space Research. 2024, Feb; 40: 97-105.
  1. 15.   Mismatch repair protein MLH1 suppresses replicative stress in BRCA2 deficient breast tumors
  2. Sengodan,Satheesh; Hu, Xiaoju; Peddibhotla, Vaishnavi; Balamurugan, Kuppusamy; Mitrophanov,Alex; McKennett,Lois; Kharat, Suhas S; Sanawar, Rahul; Singh, Vinod Kumar; Albaugh,Mary; Burkett,Sandra; Zhao,Yongmei; Tran,Bao; Malys,Tyler; Sterneck,Esta; De, Subhajyoti; Sharan,Shyam
  3. The Journal of Clinical Investigation. 2024, Jan 25; 134(7):
  1. 16.   Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers
  2. Lim, Wan Ching; Marques Da Costa, Maria Eugenia; Godefroy, Karine; Jacquet, Eric; Gragert, Loren; Rondof, Windy; Marchais, Antonin; Nhiri, Naima; Dalfovo, Davide; Viard,Mathias; Labaied, Nizar; Khan, Asif M; Dessen, Philippe; Romanel, Alessandro; Pasqualini, Claudia; Schleiermacher, Gudrun; Carrington,Mary; Zitvogel, Laurence; Scoazec, Jean-Yves; Geoerger, Birgit; Salmon, Jerome
  3. Frontiers in Immunology. 2024, Jan 22; 14: 1265469.
  1. 17.   Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
  2. Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlíková Pourová, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan C; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith S; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond J; Lyons, Michael J; Douglas, Jessica; Nowak, Catherine B; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo,Lino; Tomassoni Ardori,Francesco; Palko,Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Ange-Line, Bruel; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan J; Randolph, Linda M; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Abdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane Mr; Shoubridge, Cheryl; Corbett, Mark A; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen A; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
  3. The Journal of clinical investigation. 2024, Jan 2; 134(1): e171235.
  1. 18.   Clinical and molecular characterization of children and adults with respiratory bocavirus infection in Mexico: a cross-sectional nested study within the ILI002 prospective observational study
  2. Gamiño-Arroyo, Ana Estela; Arellano-Galindo, José; Del Carmen Guerra-de-Blas, Paola; Ortega-Villa, Ana M; Mateja,Allyson; Llamosas-Gallardo, Beatriz; Ortíz-Hernández, Ana A; Valdéz-Vázquez, Rafael; Ramírez-Venegas, Alejandra; Galindo-Fraga, Arturo; Guerrero, Ma Lourdes; Ramos-Cervantes, Pilar; Mendoza-Garcés, Luis; González-Matus, Mónica; Marroquín-Rojas, Carmen; Xicohtencatl-Cortes, Juan; Ochoa, Sara A; Cruz-Córdova, Ariadna; Powers,John; Ruiz-Palacios, Guillermo Miguel; Beigel, John; Moreno-Espinosa, Sarbelio
  3. Lancet Regional Health. Americas. 2024, Jan; 29: 100647.
  1. 19.   Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs
  2. Biswas,Kajal; Mitrophanov,Alex; Sahu,Sounak; Sullivan,Teresa; Southon,Eileen; Nousome,Darryl; Reid, Susan; Narula, Sakshi; Smolen, Julia; Sengupta, Trisha; Riedel-Topper, Maximilian; Kapoor, Medha; Babbar, Anav; Stauffer,Stacey; Cleveland, Linda; Tandon, Mayank; Malys,Tyler; Sharan,Shyam
  3. Cell Reports Methods. 2023, Nov 20; 3(11): 100628.
  1. 20.   Joint associations between established genetic susceptibility loci, pesticide exposures, and risk of prostate cancer
  2. Hurwitz, Lauren M; Beane Freeman, Laura E; Andreotti, Gabriella; Hofmann, Jonathan N; Parks, Christine G; Sandler, Dale P; Lubin, Jay H; Liu,Jia; Jones,Kristine; Berndt, Sonja I; Koutros, Stella
  3. Environmental Research. 2023, Nov 15; 237(Pt 2): 117063.
  1. 21.   Protocol for the saturation and multiplexing of genetic variants using CRISPR-Cas9
  2. Sahu,Sounak; Sullivan,Teresa; Southon,Eileen; Caylor,Dylan; Geh, Josephine; Sharan,Shyam
  3. STAR Protocols. 2023, Nov 08; 4(4): 102702.
  1. 22.   HLA-DPA1*02:01~B1*01:01 is a risk haplotype for primary sclerosing cholangitis mediating activation of NKp44+ NK cells
  2. Zecher, Britta F; Ellinghaus, David; Schloer, Sebastian; Niehrs, Annika; Padoan, Benedetta; Baumdick, Martin E; Yuki,Yuko; Martin, Maureen P; Glow, Dawid; Schröder-Schwarz, Jennifer; Niersch, Jennifer; Brias, Sébastien; Müller, Luisa M; Habermann, Robin; Kretschmer, Paul; Früh, Tristan; Dänekas, Janis; Wehmeyer, Malte H; Poch, Tobias; Sebode, Marcial; Ellinghaus, Eva; Degenhardt, Frauke; Körner, Christian; Hoelzemer, Angelique; Fehse, Boris; Oldhafer, Karl J; Schumacher, Udo; Sauter, Guido; Carrington,Mary; Franke, Andre; Bunders, Madeleine J; Christoph, Schramm; Altfeld, Marcus
  3. Gut. 2023, Oct 03;
  1. 23.   A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
  2. McDermott, David H; Velez, Daniel; Cho, Elena; Cowen, Edward W; DiGiovanna, John J; Pastrana, Diana V; Buck, Christopher B; Calvo, Katherine R; Gardner, Pamela J; Rosenzweig, Sergio D; Stratton, Pamela; Merideth, Melissa A; Kim, H Jeffrey; Brewer, Carmen; Katz, James D; Kuhns,Doug; Malech, Harry L; Follmann, Dean; Fay, Michael P; Murphy, Philip M
  3. The Journal of Clinical Investigation. 2023, Oct 2; 133(19): e164918.
  1. 24.   Enhancing Anti-SARS-CoV-2 Neutralizing Immunity by Genetic Delivery of Enveloped Virus-like Particles Displaying SARS-CoV-2 Spikes
  2. Yang, Yongping; Kong, Wing-Pui; Liu, Cuiping; Ruckwardt, Tracy J; Tsybovsky,Yaroslav; Wang, Lingshu; Wang, Shuishu; Biner, Daniel W; Chen, Man; Liu, Tracy; Merriam, Jonah; Olia, Adam S; Ou, Li; Qiu, Qi; Shi, Wei; Stephens,Tyler; Yang, Eun Sung; Zhang, Baoshan; Zhang, Yi; Zhou, Qiong; Rawi, Reda; Koup, Richard A; Mascola, John R; Kwong, Peter D
  3. Vaccines. 2023, Aug 31; 11(9):
  1. 25.   In utero exposure to diethylstilbestrol and blood DNA methylation in adult women: Results from a meta-analysis of two cohort studies
  2. Bodelon, Clara; Gierach, Gretchen L; Hatch, Elizabeth E; Riseberg, Emily; Hutchinson,Amy; Yeager,Meredith; Sandler, Dale P; Taylor, Jack A; Hoover, Robert N; Xu, Zongli; Titus, Linda; Palmer, Julie R; Troisi, Rebecca
  3. Environmental Research. 2023, Aug 15; 231(Pt. 1): 115990.
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