Genetics in Medicine, 1098-3600


  1. 2020
  2. Lenz, D., Smith, D. E. C., Crushell, E., Husain, R. A., Salomons, G. S., Alhaddad, B., ... Staufner, C. (2020). Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1. Genetics in Medicine.
  3. Undiagnosed Diseases Network, Care4Rare Canada Consortium, Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., ... Gordon, C. T. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine, 1215-1226.
  4. Deciphering Developmental Disorder Study, Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., ... Delpienne, C. (2020). Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in Medicine, 22(3), 524-537.,
  5. Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., ... Callewaert, B. (2020). A clinical scoring system for congenital contractural arachnodactyly. Genetics in Medicine, 22(1), 124-131.
  6. 2019
  7. Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., ... Nielsen, M. (2019). An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. Genetics in Medicine, 21(12), 2706-2712.
  8. van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., ... Mancini, G. M. S. (2019). Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome . Genetics in Medicine, 21(9), 2160-2161.
  9. Drost, M., Tiersma, Y., Thompson, B. A., Frederiksen, J. H., Keijzers, G., Glubb, D., ... Tavtigian, S. V. (2019). A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine, 21(7), 1486-1496.
  10. van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., ... Mancini, G. M. S. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine, 21(6), 1295-1307.
  11. 2018
  12. 2017
  13. Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., ... Schaaf, C. P. (2017). The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine, 19(1), 45-52.
  14. 2016
  15. Monroe, G. R., Frederix, G. W., Savelberg, S. M. C., de Vries, T. I., Duran, K. J., van der Smagt, J. J., ... van Haaften, G. (2016). Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genetics in Medicine, 18(9), 949-956.
  16. Suerink, M., van der Klift, H. M., ten Broeke, S. W., Dekkers, O. M., Bernstein, I., Capella Munar, G., ... Nielsen, M. (2016). The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genetics in Medicine, 18(4), 405-409.
  17. 2015
  18. 2013
  19. van der Werf, C. S., Sribudiani, Y., Verheij, J. B. G. M., Carroll, M., O'Loughlin, E., Chen, C-H., ... Hofstra, R. M. W. (2013). Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. Genetics in Medicine, 15(4), 310-313.
  20. Vergult, S., Hoogeboom, A. J. M., Bijlsma, E. K., Sante, T., Klopocki, E., De Wilde, B., ... Menten, B. (2013). Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. Genetics in Medicine, 15(3), 195-202.
  21. 2011
  22. Lammens, C. R. M., Aaronson, N. K., Hes, F. J., Links, T. P., Zonnenberg, B. A., Lenders, J. W. M., ... Bleiker, E. M. A. (2011). Compliance with periodic surveillance for Von-Hippel-Lindau disease. Genetics in Medicine, 13(6), 519-527.
  23. 2010
  24. van Dijk, F. S., Huizer, M., Kariminejad, A., Marcelis, C. L., Plomp, A. S., Terhal, P. A., ... Pals, G. (2010). Complete COL1A1 allele deletions in osteogenesis imperfecta. Genetics in Medicine, 12(11), 736-741.
  25. Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Med, A. B., Case, L. E., ... Watson, M. S. (2010). Glycogen Storage Disease Type III diagnosis and management guidelines. Genetics in Medicine, 12(7), 446-463.
  26. 2009
  27. Cotton, R. G. H., Al Aqeel, A. I., Al-Mulla, F., Carrera, P., Claustres, M., Ekong, R., ... Publication Credit Incentives Work (2009). Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project. Genetics in Medicine, 11(12), 843-849.
  28. 2005
  29. Dedoussis, GV., Panagiotakos, DB., Vidra, NV., Louizou, E., Chrysohoou, C., Germanos, A., ... CARDIOGENE Study Grp (2005). Association between TNF-alpha -308GA polymorphism and the development of acute coronary syndromes in Greek subjects: The CARDIO2000-GENE Study. Genetics in Medicine, 7(6), 411-416.

ID: 5006460