Browse by Journal Title

2024

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmüller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E. A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nürnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., Elsayed, L.E.O. and Lerche, H.
European Journal of Human Genetics 32 (10): 1338-1342. October 2024

2023

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel, H.L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T.B., Osmond, M., Andrade, A., Schallner, J., Porrmann, J., McDonald, K., Liao, M., Oppermann, H., Platzer, K., Dierksen, N., Mojarrad, M., Eslahi, A., Bakaeean, B., Calame, D.G., Lupski, J.R., Firoozfar, Z., Seyedhassani, S.M., Mohammadi, S.A., Anwaar, N., Rahman, F., Seelow, D., Janz, M., Horn, D., Maroofian, R. and Boschann, F.
European Journal of Human Genetics 31 (8): 905-317. August 2023

2022

Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study.
Konigorski, S., Janke, J., Patone, G., Bergmann, M.M., Lippert, C., Hübner, N., Kaaks, R., Boeing, H. and Pischon, T.
European Journal of Human Genetics 32 (9): 1127-1135. September 2022

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter, M.S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S.W., Rudnik-Schöneborn, S., Bassett, A.S. and Lessel, D.
European Journal of Human Genetics 30 (5): 611-618. May 2022

Combining callers improves the detection of copy number variants from whole-genome sequencing.
Coutelier, M., Holtgrewe, M., Jäger, M., Flöttman, R., Mensah, M.A., Spielmann, M., Krawitz, P., Horn, D., Beule, D. and Mundlos, S.
European Journal of Human Genetics 30 (2): 178-186. February 2022

Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., Yigit, G. and Wollnik, B.
European Journal of Human Genetics 30 (2): 211-218. February 2022

2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas, T.G., Li, D., Nair, D., Alaimo, J.T., Alders, M., Altmüller, J., Barakat, T.S., Bebin, E.M., Bertsch, N.L., Blackburn, P.R., Blesson, A., Bouman, A.M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G.M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L.E., Gunderson, L.B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E.W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J.L., Milunsky, J.M., Napier, M.P., Ortiz-Gonzalez, X.R., Pichurin, P.N., Pinner, J., Powis, Z., Prasad, C., Radio, F.C., Rasmussen, K.J., Renaud, D.L., Rush, E.T., Saunders, C., Selcen, D., Seman, A.R., Shinde, D.N., Smith, E.D., Smol, T., Snijders Blok, L., Stoler, J.M., Tang, S., Tartaglia, M., Thompson, M.L., van de Kamp, J.M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E.H., Zampino, G., Campeau, P. and Bhoj, E.
European Journal of Human Genetics 28 (10): 1422-1431. October 2020

2019

Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blümcke, I. and Lal, D.
European Journal of Human Genetics 27 (11): 1738-1744. November 2019

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz, M., Wachowska, M., Cook, E.C., Lisowski, P., Kuźniewska, B., Szymańska, K., Diecke, S., Prigione, A., Szczałuba, K., Szybińska, A., Koppolu, A., Murcia Pienkowski, V., Kosińska, J., Wiweger, M., Kostrzewa, G., Brzozowska, M., Domańska-Pakieła, D., Jurkiewicz, E., Stawiński, P., Gromadka, A., Zielenkiewicz, P., Demkow, U., Dziembowska, M., Kuźnicki, J., Creamer, T.P. and Płoski, R.
European Journal of Human Genetics 27 (1): 61-69. January 2019

2018

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J., Lal, D., Nürnberg, P., Sander, T., Thiele, H., Krause, R., May, P., Balling, R., Lerche, H. and Neubauer, B.A.
European Journal of Human Genetics 26 (2): 258-264. February 2018

2016

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal, I., Alvarez-Mora, M.I., Rosell, J., Rodríguez-Revenga, L., Karlberg, O., Sauer, S., Syvänen, A.C. and Mila, M.
European Journal of Human Genetics 24 (8): 1117-1123. August 2016

2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
de Brouwer, A.P.M., Nabuurs, S.B., Verhaart, I.E.C., Oudakker, A.R., Hordijk, R., Yntema, H.G., Hordijk-Hos, J.M., Voesenek, K., de Vries, B.B.A., van Essen, T., Chen, W., Hu, H., Chelly, J., den Dunnen, J.T., Kalscheuer, V.M., Aartsma-Rus, A.M., Hamel, B.C.J., van Bokhoven, H. and Kleefstra, T.
European Journal of Human Genetics 22 (4): 480-485. April 2014

2013

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Roncarati, R., Viviani Anselmi, C., Krawitz, P., Lattanzi, G., von Kodolitsch, Y., Perrot, A., di Pasquale, E., Papa, L., Portararo, P., Columbaro, M., Forni, A., Faggian, G., Condorelli, G. and Robinson, P.N.
European Journal of Human Genetics 21 (10): 1105-1111. October 2013

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
Meyer, T., Ruppert, V., Ackermann, S., Richter, A., Perrot, A., Sperling, S.R., Posch, M.G., Maisch, B. and Pankuweit, S.
European Journal of Human Genetics 21 (3): 294-300. March 2013

2011

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jensen, L.R., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., Tzschach, A., Kalscheuer, V.M., Meloni, I., Raynaud, M., van Esch, H., Chelly, J., de Brouwer, A.P., Hackett, A., van der Haar, S., Henn, W., Gecz, J., Riess, O., Bonin, M., Reinhardt, R., Ropers, H.H. and Kuss, A.W.
European Journal of Human Genetics 19 (6): 717-720. June 2011

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Kahrizi, K., Hu, C.H., Garshasbi, M., Abedini, S.S., Ghadami, S., Kariminejad, R., Ullmann, R., Chen, W., Ropers, H.H., Kuss, A.W., Najmabadi, H. and Tzschach, A.
European Journal of Human Genetics 19 (1): 115-117. January 2011

2010

Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy.
Ruppert, V., Meyer, T., Struwe, C., Petersen, J., Perrot, A., Posch, M.G., Oezcelik, C., Richter, A., Maisch, B. and Pankuweit, S.
European Journal of Human Genetics 18 (6): 694-699. June 2010

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Chen, W., Ullmann, R., Langnick, C., Menzel, C., Wotschofsky, Z., Hu, H., Doering, A., Hu, Y., Kang, H., Tzschach, A., Hoeltzenbein, M., Neitzel, H., Markus, S., Wiedersberg, E., Kistner, G., van Ravenswaaij-Arts, C.M., Kleefstra, T., Kalscheuer, V.M. and Ropers, H.H.
European Journal of Human Genetics 18 (5): 539-543. May 2010

2007

Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Everett, K.V., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Eeg-Olofsson, O., Feucht, M., Friis, M., Goutieres, F., Guerrini, R., Heils, A., Kjeldsen, M., Lehesjoki, A.E., Makoff, A., Nabbout, R., Olsson, I., Sander, T., Siren, A., McKeigue, P., Robinson, R., Taske, N., Rees, M. and Gardiner, M.
European Journal of Human Genetics 15 (4): 463-472. April 2007

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
Chen, W., Jensen, L.R., Gecz, J., Fryns, J.P., Moraine, C., de Brouwer, A., Chelly, J., Moser, B., Ropers, H.H. and Kuss, A.W.
European Journal of Human Genetics 15 (3): 375-378. March 2007

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
Jensen, L.R., Lenzner, S., Moser, B., Freude, K., Tzschach, A., Chen, W., Fryns, J.P., Chelly, J., Turner, G., Moraine, C., Hamel, B., Ropers, H.H. and Kuss, A.W.
European Journal of Human Genetics 15 (1): 68-75. January 2007

2004

Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia.
Dietter, J., Spiegel, A., Mey, D.a., Pflug, H.J., Al Kateb, H., Hoffmann, K., Wienker, T.F. and Strauch, K.
European Journal of Human Genetics 12 (7): 542-550. 1 January 2004

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons.
Kaufmann, D., Kenner, O., Nuernberg, P., Vogel, W. and Bartelt, B.
European Journal of Human Genetics 12 (2): 139-149. 1 January 2004

2002

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
Kabaeva, Z.T., Perrot, A., Wolter, B., Dietz, R., Cardim, N., Correia, J.M., Schulte, H.D., Aldashev, A.A., Mirrakhimov, M.M. and Osterziel, K.J.
European Journal of Human Genetics 10 (11): 741-748. November 2002

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.
Appel, S., Filter, M., Reis, A., Hennies, H.C., Bergheim, A., Ogilvie, E., Arndt, S., Simmons, A., Lovett, M., Hide, W., Ramsay, M., Reichwald, K., Zimmermann, W. and Rosenthal, A.
European Journal of Human Genetics 10 (1): 17-25. 1 January 2002

2001

Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes.
Alexander, C., Bernstein, S.L., Rocchi, M. and Auburger, G.
European Journal of Human Genetics 9 : 307-310. 1 April 2001

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
Fritz, B., Aslan, M., Kalscheuer, V., Ramsing, M., Saar, K., Fuchs, B. and Rehder, H.
European Journal of Human Genetics 9 : 910-916. 1 January 2001

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt, D.M., Rickman, L., Whittock, N.V., Eady, R.A., Simrak, D., Dopping-Hepenstal, P.J.C., Stevens, H.P., Armstrong, D.K.B., Hennies, H.C., Kuster, W., Hughes, A.E., Arnemann, J., Leigh, I.M., McGrath, J.A., Kelsell, D.P. and Buxton, R.S.
European Journal of Human Genetics 9 (3): 197-203. 1 January 2001

2000

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations.
Varon, R., Seemanova, E., Chrzanowska, K., Hnateyko, O., Piekutowska-Abramczuk, D., Krajewska-Walasek, M., Sykut-Cegielska, J., Sperling, K. and Reis, A.
European Journal of Human Genetics 8 : 900-902. 1 November 2000

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Buerger, J., Fonknechten, N., Hoeltzenbein, M., Neumann, L., Bratanoff, E., Hazan, J. and Reis, A.
European Journal of Human Genetics 8 (10): 771-776. 1 October 2000

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Wieczorek, D., Krause, M., Majewski, F., Albrecht, B., Horn, D., Riess, O. and Gillessen-Kaesbach, G.
European Journal of Human Genetics 8 (7): 519-526. July 2000

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber, S., Hoffmann, K., Jeck, N., Saar, K., Boeswald, M., Kuwertz-Broeking, E., Meij, I.C., Knoers, N.V.A.M., Cochat, P., Sulakova, T., Bonzel, K.E., Soergel, M., Manz, F., Schaerer, K., Seyberth, H.W., Reis, A. and Konrad, M.
European Journal of Human Genetics 8 : 414-422. 1 June 2000

Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem.
Isaksson, A., Landegren, U., Syvanen, A.C., Bork, P., Stein, C., Ortigao, F. and Brookes, A.J.
European Journal of Human Genetics 8 : 154-156. 1 February 2000

1998

Localisation of a Fanconi anaemia gene to chromosome 9p.
Saar, K., Schindler, D., Wegner, R.D., Reis, A., Wienker, T.F., Hoehn, H., Joenje, H., Sperling, K. and Digweed, M.
European Journal of Human Genetics 6 : 501-508. 1 September 1998

1997

A xanthomatosis-susceptibility gene may exist in a syrian family with familial hypercholesterolemia.
Vergopoulos, A., Bajari, T., Jouma, M., Knoblauch, H., Aydin, A., Bähring, S., Mueller-Myhsok, B., Dresel, A., Joubran, R., Luft, F.C. and Schuster, H.
European Journal of Human Genetics 5 : 315-323. 1 January 1997

1995

No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients.
Devoto, M., Romeo, G., Tankate, L.P., Chevalier, F., Bozon, D., Estivill, X., Casals, T., Abeliovich, D., Lerer, I., Padoan, R., Seia, M., Hill, A., Liechtigallati, S., Kramer, R., Beards, F., Dear, S., Dallapiccola, B., Sangiuolo, F., Macek, M., McMahon, R., Connarty, M., Harvey, J.F., Claustres, M., Desgeorges, M., Devries, R., Scheffer, H., Cankiklain, N., Audrezet, M.P., Bienvenu, T., Chomel, J.C., Dziadek, V., Tummler, B., Schwarz, M., Haworth, A., Benitez, J., Fernandez, E., Mazurczak, T., Bal, J., Cremonesi, L., Ronchetto, P., Cashman, S.M., Ferec, C., Cuppens, H., Bauer, I., Angelicheva, D., Wagner, K., Pacheco, P., Bonizzato, A., Witt, M., McMahon, C.J., Ravnikglavac, M., Reis, A., Stuhrmann, M., Garnerone, S., Curtis, A., Gruning, G., Kanavakis, E., Klaassen, T. and Grade, K.
European Journal of Human Genetics 3 (5): 324-325. 1 January 1995