Genetics in Medicine

ISSNs: 1098-3600

Additional searchable ISSN (electronic): 1530-0366

Lippincott Williams and Wilkins Ltd.

Scopus rating (2022): CiteScore 15.4 SJR 2.745 SNIP 2.761

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	Lippincott Williams and Wilkins Ltd.
ZDB-ID	1455352-1
ZDB-ID	2063504-7

Keywords

ASJC Scopus subject areas

Genetics (clinical)

Library keywords

570 Biology

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 othersNiermeijer, 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

A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children

Friedrich, U. A., Bienias, M., Zinke, C., Prazenicova, M., Lohse, J., Jahn, A., Menzel, M., & 12 othersLanganke, J., Walter, C., Wagener, R., Brozou, T., Varghese, J., Dugas, M., Erlacher, M., Schröck, E., Suttorp, M., Borkhardt, A., Hauer, J. & Auer, F., Aug 2023, In: Genetics in Medicine. 25, 8, 100875.

Research output: Contribution to journal › Research article › Contributed

Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Hjeij, R., Aprea, I., Poeta, M., Nöthe-Menchen, T., Bracht, D., Raidt, J., Honecker, B. I., & 9 othersDougherty, G. W., Olbrich, H., Schwartz, O., Keller, U., Nüsse, H., Diderich, K. E. M., Vogelberg, C., Santamaria, F. & Omran, H., May 2023, In: Genetics in medicine. 25, 5, 100798.

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

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Solve-RD Consortia, Orphanomix Group, Schröck, E. & Rump, A., Apr 2023, In: Genetics in medicine. 25, 4, p. 1-15 15 p., 100018.