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Article

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, G., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J., Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 59 (6): 549-553. 20 May 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Harter, P., Ernst, C., Burges, A., Schmidt, S., Reuss, A., Borde, J., De Gregorio, N., Dietrich, D., El-Balat, A., Kayali, M., Gevensleben, H., Hilpert, F., Altmüller, J., Heimbach, A., Meier, W., Schoemig-Markiefka, B., Thiele, H., Kimmig, R., Nürnberg, P., Kast, K., Richters, L., Sehouli, J., Schmutzler, R.K. and Hahnen, E.
Journal of Medical Genetics 59 (3): 248-252. March 2022

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marmé, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nürnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmüller, J., Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T.W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R.K. and Harter, P.
Journal of Medical Genetics 56 (9): 574-580. September 2019

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Pauli, S., Altmüller, J., Schröder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nürnberg, P., Thiele, H., Li, Y., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 56 (4): 261-264. April 2019

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C.E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmüller, J., Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Müller, C., Novelli, A., Ortega, J., Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M. and Hennekam, R.C.
Journal of Medical Genetics 55 (12): 837-846. December 2018

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
Broekaert, I.J., Becker, K., Gottschalk, I., Körber, F., Dötsch, J., Thiele, H., Altmüller, J., Nürnberg, P., Hünseler, C. and Cirak, S.
Journal of Medical Genetics 55 (9): 637-640. September 2018

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
Spielmann, M., Hernandez-Miranda, L.R., Ceccherini, I., Weese-Mayer, D.E., Kragesteen, B.K., Harabula, I., Krawitz, P., Birchmeier, C., Leonard, N. and Mundlos, S.
Journal of Medical Genetics 54 (11): 754-761. November 2017

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmüller, J., Thiele, H., Weber, B.H.F., Schrock, E., Dobyns, W.B., Bier, A. and Rump, A.
Journal of Medical Genetics 53 (6): 419-425. June 2016

Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes, F., Barbosa, M., Ameur, A., Soares, G., de Sá, J., Dias, A.I., Oliveira, G., Cabral, P., Temudo, T., Calado, E., Cruz, I.F., Vieira, J.P., Oliveira, R., Esteves, S., Sauer, S., Jonasson, I., Syvänen, A.C., Gyllensten, U., Pinto, D. and Maciel, P.
Journal of Medical Genetics 53 (3): 190-199. March 2016

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill, C.M., Liu, T., Schjeide, B.M., Roehr, J.T., Akkad, D.A., Damotte, V., Alcina, A., Ortiz, M.A., Arroyo, R., Lopez de Lapuente, A., Blaschke, P., Winkelmann, A., Gerdes, L.A., Luessi, F., Fernadez, O., Izquierdo, G., Antiguedad, A., Hoffjan, S., Cournu-Rebeix, I., Gromoeller, S., Faber, H., Liebsch, M., Meissner, E., Chanvillard, C., Touze, E., Pico, F., Corcia, P., Doerner, T., Steinhagen-Thiessen, E., Baeckman, L., Heekeren, H.R., Li, S.C., Lindenberger, U., Chan, A., Hartung, H.P., Aktas, O., Lohse, P., Kuempfel, T., Kubisch, C., Epplen, J.T., Zettl, U.K., Fontaine, B., Vandenbroeck, K., Matesanz, F., Urcelay, E., Bertram, L. and Zipp, F.
Journal of Medical Genetics 49 (9): 558-562. September 2012

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Fokstuen, S., Munoz, A., Melacini, P., Iliceto, S., Perrot, A., Ozcelik, C., Jeanrenaud, X., Rieubland, C., Farr, M., Faber, L., Sigwart, U., Mach, F., Lerch, R., Antonarakis, S.E. and Blouin, J.L.
Journal of Medical Genetics 48 (8): 572-576. August 2011

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch, M.G., Gramlich, M., Sunde, M., Schmitt, K.R., Lee, S.H.Y., Richter, S., Kersten, A., Perrot, A., Panek, A.N., Al Khatib, I., Nemer, G., Megarbane, A., Dietz, R., Stiller, B., Berger, F., Harvey, R.P. and Oezcelik, C.
Journal of Medical Genetics 47 (4): 230-235. April 2010

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Erdogan, F., Larsen, L.A., Zhang, L., Tuemer, Z., Tommerup, N., Chen, W., Jacobsen, J.R., Schubert, M., Jurkatis, J., Tzschach, A., Ropers, H.H. and Ullmann, R.
Journal of Medical Genetics 45 (11): 704-709. November 2008

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer, J., Dreweke, A., Becker, C., Goehring, I., Thiel, C.T., Peippo, M.M., Rauch, R., Hofbeck, M., Trautmann, U., Zweier, C., Zenker, M., Hueffmeier, U., Kraus, C., Ekici, A.B., Rueschendorf, F., Nuernberg, P., Reis, A. and Rauch, A.
Journal of Medical Genetics 44 (10): 629-636. October 2007

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K.H., Maegawa, G.H., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, H.C. and Horn, D.
Journal of Medical Genetics 43 (5): e22. May 2006

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Tukel, T., Uzumcu, A., Gezer, A., Kayserili, H., Yuksel-Apak, M., Uyguner, O., Gultekin, S.H., Hennies, H.C., Nuernberg, P., Desnick, R.J. and Wollnik, B.
Journal of Medical Genetics 42 (5): 408-415. May 2005

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert, K., De Leenheer, E.M.R., Chen, W., Lee, Y., Nuernberg, P., Pennings, R.J.E., Vanderstraeten, K., Thys, M., Cremers, C.W.R.J., Smith, R.J.H. and Van Camp, G.
Journal of Medical Genetics 41 (6): 450-453. June 2004

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele, H., McCann, C., vant Padje, S., Schwabe, G.C., Hennies, H.C., Camera, G., Opitz, J., Laxova, R., Mundlos, S. and Nuernberg, P.
Journal of Medical Genetics 41 (3): 213-218. March 2004

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M., Rueschendorf, F., Krause, S., Goebel, H.H., Koehler, K., Becker, C., Pongratz, D., Mueller-Hoecker, J., Nuernberg, P., Stoltenburg-Didinger, G., Lochmueller, H. and Huebner, A.
Journal of Medical Genetics 41 (11): 842-848. 1 January 2004

Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch, A., Rueschendorf, F., Huang, J., Trautmann, U., Becker, C., Thiel, C., Jones, K.W., Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 1 January 2004

Clinical and genetic characteristics of a cardiac actin gene mutations in hypertrophic cardiomyopathy.
Mogensen, J., Perrot, A., Andersen, P.S., Havndrup, O., Klausen, I.C., Christiansen, M., Bross, P., Egeblad, H., Bundgaard, H., Osterziel, K.J., Haltern, G., Lapp, H., Reinecke, P., Gregersen, N. and Borglum, A.D.
Journal of Medical Genetics 41 : E10. January 2004

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf, R.G., Berkman, J., Wolf, M.T.F., Nuernberg, P., Gattas, M., Ruf, E.M., Hyland, V., Kromberg, J., Glass, I., Macmillan, J., Otto, E., Nuernberg, G., Lucke, B., Hennies, H.C. and Hildebrandt, F.
Journal of Medical Genetics 40 (7): 515-519. July 2003

Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families.
Hofmann, W., Wappenschmidt, B., Berhane, S., Schmutzler, R. and Scherneck, S.
Journal of Medical Genetics 39 : E36. 1 July 2002

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Bayoumi, R., Saar, K., Lee, Y.A., Nuernberg, G., Reis, A., Nur-E-Kamal, M. and Al Gazali, L.I.
Journal of Medical Genetics 38 (6): 369-373. 1 January 2001

Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation.
Thies, C., Handrock, M., Sperling, K. and Reis, A.
Journal of Medical Genetics 33 : 597-599. 1 January 1996

The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.
Teare, M.D., Rohde, K. and Santibanez-Koref, M.F.
Journal of Medical Genetics 31 : 448-452. 1 January 1994

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Koch, M.C., Ricker, K., Otto, M., Wolf, F., Zoll, B., Lorenz, C., Steinmeyer, K. and Jentsch, T.J.
Journal of Medical Genetics 30 (11): 914-917. November 1993

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMB family.
Lenk, U., Demuth, S., Kraeft, U., Hanke, R. and Speer, A.
Journal of Medical Genetics 30 : 206-209. 1 January 1993

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.
Lenk, U., Hanke, R., Kraeft, U., Grade, K., Grunewald, I. and Speer, A.
Journal of Medical Genetics 30 : 951-954. 1 January 1993

On the genetics of mandibular prognathism: analysis of large European noble families.
Wolff, G., Wienker, T.F. and Sander, H.
Journal of Medical Genetics 30 : 112-116. 1 January 1993

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).
Wolff, G., Mayerova, A., Wienker, T.F., Atalianis, P., Ioannou, P. and Warburg, M.
Journal of Medical Genetics 29 : 816-819. 1 January 1992

Letter

We need a detailed phenome in the phenomenon of genetics and congenital heart disease.
Posch, M.G., Berger, F., Perrot, A. and Oezcelik, C.
Journal of Medical Genetics 45 (5): 320. May 2008

The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene.
Hofmann, W., Horn, D., Huettner, C., Classen, E. and Scherneck, S.
Journal of Medical Genetics 40 : e23. 1 March 2003

Limited contribution of interchromosomal gene conversion to NF1 gene mutation.
Luijten, M., Fahsold, R., Mischung, C., Westerveld, A., Nuernberg, P. and Hulsebos, T.J.
Journal of Medical Genetics 38 (7): 481-485. July 2001

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
Horn, D., Rupprecht, E., Kunze, J. and Spranger, J.
Journal of Medical Genetics 38 : 262-265. 1 January 2001

A novel mutation and novel features in Nijmegen breakage syndrome.
Maraschio, P., Danesino, C., Antoccia, A., Ricordy, R., Tanzarella, C., Varon, R., Reis, A., Besana, D., Guala, A. and Tiepolo, L.
Journal of Medical Genetics 38 : 113-117. 1 January 2001

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.
Toennies, H., Schulze, I., Hennies, H.C., Neumann, L.M., Keitzer, R. and Neitzel, H.
Journal of Medical Genetics 38 : 617-621. 1 January 2001

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
Vanita, V.S., Sarhadi, V., Reis, A., Jung, M., Singh, D., Sperling, K., Singh, J.R. and Buerger, J.
Journal of Medical Genetics 38 : 392-396. 1 January 2001