Genetics in Medicine

ISSNs: 1098-3600

Additional searchable ISSN (electronic): 1530-0366

Elsevier Science B.V.

Scopus rating (2024): CiteScore 14.1 SJR 2.683 SNIP 2.384

Journal

Titles	Genetics in Medicine Genetics in medicine
Additional searchable titles	Genetics in medicine : official journal of the American College of Medical Genetics, Genetics in medicine : official journal of the American College of Medical Genetics.
ISSNs	1098-3600
Additional searchable ISSN (electronic)	1530-0366
Publisher	Elsevier Science B.V.
ZDB-ID	1455352-1
ZDB-ID	2063504-7

Keywords

ASJC Scopus subject areas

Genetics (clinical)

Library keywords

570 Biology

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

van Oirsouw, A. S. E., Nedbalova, P., Hancarova, M., Prchal, J., Prchalova, D., Vlckova, M. & Bendova, S. & 72 others, Monaghan, K. G., Dyer, L. M., Chen, Y., Carere, D. A., Te Bogt, E. A. M., Fisher, H., Scheuerle, A. E., Riley, S., Jain, M., Mu, W., Bodurtha, J. N., van Eerde, A. M., Stokman, M. F., Longo, N., Balasubramanian, M., Spiller, M., Costain, G., von der Lippe, C., Tveten, K., Jortveit, M., Holla, Ø. L., Isidor, B., Cogné, B., Glinton, K. E., Vuocolo, B., Sierra, R. A., Angle, B., Bontempo, K., Koop, K., Rabin, R., Pappas, J., Staffenberg, D. A., Joset, P., Miny, P., Filges, I., Alali, A., Vitalone, K., Rosenfeld, J. A., Bi, W., Bradbrook, S., Perrier, R., Ramanathan, S., Gold, J.-A., Bralo, M. P., Gómez-Cano, M. Á., Olney, A. H., Nielsen, S., Ziegler, A., Bonneau, D., Prouteau, C., Bruel, A.-L., Caille-Benigni, C., Lambert, L., Yu, A. C., Robin, N. H., Goodloe, D., Fischer, J., Porrmann, J., Hennig, Y. D., Jamra, R. A., Herman, I., Johnson, I. R., Hérissant, L., Jouret, G., van Gassen, K. L. I., van Binsbergen, E., van der Zwaag, B., Kamermans, A., Oegema, R., Sedlacek, Z., Fenckova, M. & van Jaarsveld, R. H., Nov 2025, In: Genetics in Medicine. 27, 11, 101555.

Research output: Contribution to journal › Research article › Contributed

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., de Jong, M. M., Links, T. P., Brems, H. & Aerden, M. & 43 others, Brunet, J., Lleuger-Pujol, R., Hüneburg, R., Aretz, S., Colas, C., Villy, M.-C., Woodward, E. R., Evans, D. G., Bosch, D. G. M., Donze, S. H., Foretová, L., Blatnik, A., Leter, E. M., Tischkowitz, M., Jahn, A., de Putter, R., Dupont, J., Briskemyr, S., Steinke-Lange, V., Baldassarri, M., Anastasiadou, V. C., Irmejs, A., Oliveira, C., van der Post, R. S., Mensenkamp, A. R., Tesi, B., Mu, N., Benusiglio, P. R., Gerasimenko, A., Innella, G., Turchetti, D., Houdayer, C., Branchaud, M., Høberg-Vetti, H., Haavind, M. T., Balmaña, J., Torres, M., Genuardi, M., Panfili, A., Jørgensen, K., Mæhle, L., Hoogerbrugge, N. & Vos, J. R., Oct 2025, In: Genetics in Medicine. 27, 10, 101467.

Research output: Contribution to journal › Research article › Contributed › peer-review

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Berger, E., Jauss, R.-T., Ranells, J. D., Zonic, E., von Wintzingerode, L., Wilson, A. & Wagner, J. & 42 others, Tuttle, A., Thomas-Wilson, A., Schulte, B., Rabin, R., Pappas, J., Odgis, J. A., Muthaffar, O., Mendez-Fadol, A., Lynch, M., Levy, J., Lehalle, D., Lake, N. J., Krey, I., Kozenko, M., Knierim, E., Jouret, G., Jobanputra, V., Isidor, B., Hunt, D., Hsieh, T.-C., Holtz, A. M., Haack, T. B., Gold, N. B., Dunstheimer, D., Donge, M., Deb, W., De La Rosa Poueriet, K. A., Danyel, M., Christodoulou, J., Chopra, S., Callewaert, B., Busche, A., Brick, L., Bigay, B. G., Arlt, M., Anikar, S. S., Almohammal, M. N., Almanza, D., Alhashem, A., Bertoli-Avella, A., Sticht, H. & Abou Jamra, R., May 2025, In: Genetics in Medicine. 27, 5, 101326.

Research output: Contribution to journal › Research article › Contributed › peer-review

Erratum: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (Genetics in Medicine (2023) 25(10), (S1098360023009401), (10.1016/j.gim.2023.100927))

Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C. & Müller, C. & 20 others, Niermeijer, J. M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M., Barakat, T. S., Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., Nov 2023, Genetics in medicine, 25, 11, p. 100964.

Research output: Contribution to specialist publication › Corrections (errata and retractions) › peer-review

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Research output: Contribution to journal › Research article › Contributed › peer-review

View all research output (12)

Research Portal of the TU Dresden

Genetics in Medicine

Keywords

ASJC Scopus subject areas

Library keywords

Related content

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Erratum: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (Genetics in Medicine (2023) 25(10), (S1098360023009401), (10.1016/j.gim.2023.100927))

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias