Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa von Backlund, Michael P., Repo, Pauliina, Kangas, Harri, Donner, Kati, Sankila, Eeva-Marja, Krootila, Julia, Paavo, Maarjaliis, Wartiovaara, Kirmo, Kivelä, Tero T., Turunen, Joni A.

Volltext

Functional Analysis of 3′UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia von Sanguino Otero, Javier, Rodríguez-Jiménez, Carmen, Mostaza Prieto, Jose, Rodríguez-Antolín, Carlos, Carazo Alvarez, Ana, Arrieta Blanco, Francisco, Rodríguez-Nóvoa, Sonia

Volltext

Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy von Perrier, Stefanie, Macintosh, Julia, Misiaszek, Agata D., Lambert, Gabrielle, Guerrero, Kether, Tran, Luan T., Müller, Christoph W., Pastinen, Tomi, Maegawa, Gustavo H. B., Thiffault, Isabelle, Bernard, Geneviève

Volltext

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays von Bouvet, Delphine, Blondel, Amélie, de Sainte Agathe, Jean-Madeleine, Leroy, Gwendoline, Saint-Martin, Cécile, Bellanné-Chantelot, Christine

Volltext

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease von Durkie, Miranda, Watson, Christopher M., Winship, Peter, Hogg, Anne-Cecile, Nyanhete, Rodney, Cooley, Sharon, Valluru, Manoj K., Shaw-Smith, Charles, Bingham, Coralie, Gilchrist, Mark, Kenny, Janna, Consortium, Genomics England Research, Ong, Albert C. M.

Volltext

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene von Manjunath, V., Thenral, S. G., Lakshmi, B. R., Nalini, Atchayaram, Bassi, A., Karthikeyan, K. Priya, Piyusha, K., Menon, R., Malhotra, A., Praveena, L. S., Anjanappa, R. M., Murugan, S. M. Sakthivel, Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, V., Vengalil, Seena, Nashi, Saraswati, Sanga, S., Acharya, M., Raju, R., Pai, V. R., Ramprasad, V. L., Gupta, R.

Volltext

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy von Gouronc, Aurélie, Javey, Elodie, Leuvrey, Anne-Sophie, Nourisson, Elsa, Friedmann, Sylvie, Reichert, Valérie, Derive, Nicolas, Francannet, Christine, Keren, Boris, Lévy, Jonathan, Planes, Marc, Ruaud, Lyse, Amiel, Jeanne, Dollfus, Hélène, Scheidecker, Sophie, Muller, Jean

Volltext

Polygenic risk score for acute rejection based on donor-recipient non-HLA genotype mismatch von Cao, Rui, Schladt, David P, Dorr, Casey, Matas, Arthur J, Oetting, William S, Jacobson, Pamala A, Israni, Ajay, Chen, Jinbo, Guan, Weihua

Volltext

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD von Snoek, Rozemarijn, van Setten, Jessica, Keating, Brendan J, Israni, Ajay K, Jacobson, Pamala A, Oetting, William S, Matas, Arthur J, Mannon, Roslyn B, Zhang, Zhongyang, Zhang, Weijia, Hao, Ke, Murphy, Barbara, Reindl-Schwaighofer, Roman, Heinzl, Andreas, Oberbauer, Rainer, Viklicky, Ondrej, Conlon, Peter J, Stapleton, Caragh P, Bakker, Stephan J L, Snieder, Harold, Peters, Edith D J, van der Zwaag, Bert, Knoers, Nine V A M, de Borst, Martin H, van Eerde, Albertien M

Volltext

Dosing equation for tacrolimus using genetic variants and clinical factors von Passey, Chaitali, Birnbaum, Angela K., Brundage, Richard C., Oetting, William S., Israni, Ajay K., Jacobson, Pamala A.

Volltext

Tacrolimus troughs and genetic determinants of metabolism in kidney transplant recipients: A comparison of four ancestry groups von Mohamed, Moataz E., Schladt, David P., Guan, Weihua, Wu, Baolin, Setten, Jessica, Keating, Brendan J., Iklé, David, Remmel, Rory P., Dorr, Casey R., Mannon, Roslyn B., Matas, Arthur J., Israni, Ajay K., Oetting, William S., Jacobson, Pamala A., Cecka, J. Michael, Connett, John, Cosio, Fernando G., Gaston, Robert, Gourishankar, Sita, Grande, Joseph P., Hunsicker, Lawrence, Kasiske, Bertram, Rush, David

Volltext

A Genome-Wide Association Study of Behavioral Disinhibition von McGue, Matt, Zhang, Yiwei, Miller, Michael B., Basu, Saonli, Vrieze, Scott, Hicks, Brian, Malone, Steve, Oetting, William S., Iacono, William G.

Volltext

Functional Fcgamma receptor polymorphisms are associated with human allergy von Wu, Jianming, Lin, Rui, Huang, Jinhai, Guan, Weihua, Oetting, William S, Sriramarao, P, Blumenthal, Malcolm N

Volltext

Implementing pharmacogenomics in modern health care: The 2017 scientific meeting of the Human Genome Variation Society von Lanting, Pauline, Oetting, William S.

Volltext

Donor and recipient polygenic risk scores influence the risk of post-transplant diabetes von Shaked, Abraham, Loza, Bao-Li, Van Loon, Elisabet, Olthoff, Kim M., Guan, Weihua, Jacobson, Pamala A., Zhu, Andrew, Fishman, Claire E., Gao, Hui, Oetting, William S., Israni, Ajay K., Testa, Giuliano, Trotter, James, Klintmalm, Goran, Naesens, Maarten, Asrani, Sumeet K., Keating, Brendan J.

Volltext

High-order SNP combinations associated with complex diseases: efficient discovery, statistical power and functional interactions von Fang, Gang, Haznadar, Majda, Wang, Wen, Yu, Haoyu, Steinbach, Michael, Church, Timothy R, Oetting, William S, Van Ness, Brian, Kumar, Vipin

Volltext

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B von Loftus, Stacie K., Gillis, Meredith F., Lundh, Linnea, Baxter, Laura L., Wedel, Julia C., Watkins-Chow, Dawn E., Donovan, Frank X., Sergeev, Yuri V., Oetting, William S., Pavan, William J., Adams, David R.

Volltext

Knowledge and attitudes of incoming pharmacy students toward pharmacogenomics and survey reliability von Wen, Ya-Feng, Jacobson, Pamala A, Oetting, William S, Pereira, Chrystian, Brown, Jacob T

Volltext

The Ultimate Guide to DMD Variants von Oetting, William S.

Volltext

Steroid–tacrolimus drug–drug interaction and the effect of CYP3A genotypes von Saqr, Abdelrahman, Al‐Kofahi, Mahmoud, Mohamed, Moataz, Dorr, Casey, Remmel, Rory P., Onyeaghala, Guillaume, Oetting, William S., Guan, Weihua, Mannon, Roslyn B., Matas, Arthur J., Israni, Ajay, Jacobson, Pamala A.

Volltext