Browse by Journal Title

2024

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M. and Elseed, M.A. and Mohammed, I.N. and Hamed, A.A. and Abd Allah, A.S.I. and Yahia, A. and Siddig, R.A. and Altmüller, J. and Toliat, M.R. and Elmahdi, E.O. and Amin, M. and Ahmed, E. A. and Eltazi, I.Z.M. and Elmugadam, F.A. and Abdelgadir, W.A. and Eltaraifee, E. and Ibrahim, M.O.M. and Ali, N.M.H. and Malik, H.M. and Babai, A.M. and Bakhit, Y.H. and Nürnberg, P. and Ibrahim, M.E. and Salih, M.A. and Schubert, J. and Elsayed, L.E.O. and Lerche, H.
European Journal of Human Genetics 5 February 2024 (In Press)

2023

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel, H.L. and Zhao, M. and Wollert-Wulf, B. and Danyel, M. and Ehmke, N. and Stoltenburg, C. and Damseh, N. and Al-Ashhab, M. and Balci, T.B. and Osmond, M. and Andrade, A. and Schallner, J. and Porrmann, J. and McDonald, K. and Liao, M. and Oppermann, H. and Platzer, K. and Dierksen, N. and Mojarrad, M. and Eslahi, A. and Bakaeean, B. and Calame, D.G. and Lupski, J.R. and Firoozfar, Z. and Seyedhassani, S.M. and Mohammadi, S.A. and Anwaar, N. and Rahman, F. and Seelow, D. and Janz, M. and Horn, D. and 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. and Janke, J. and Patone, G. and Bergmann, M.M. and Lippert, C. and Hübner, N. and Kaaks, R. and Boeing, H. and Pischon, T.
European Journal of Human Genetics 11 August 2022 (In Press)

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter, M.S. and Zech, M. and Hempel, M. and Altmüller, J. and Heung, T. and Pölsler, L. and Santer, R. and Thiele, H. and Trost, B. and Kubisch, C. and Scherer, S.W. and Rudnik-Schöneborn, S. and 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. and Holtgrewe, M. and Jäger, M. and Flöttman, R. and Mensah, M.A. and Spielmann, M. and Krawitz, P. and Horn, D. and 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. and Schreiber, G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Li, Y. and Kaulfuß, S. and Funke, R. and Wilken, B. and 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. and Li, D. and Nair, D. and Alaimo, J.T. and Alders, M. and Altmüller, J. and Barakat, T.S. and Bebin, E.M. and Bertsch, N.L. and Blackburn, P.R. and Blesson, A. and Bouman, A.M. and Brockmann, K. and Brunelle, P. and Burmeister, M. and Cooper, G.M. and Denecke, J. and Dieux-Coëslier, A. and Dubbs, H. and Ferrer, A. and Gal, D. and Bartik, L.E. and Gunderson, L.B. and Hasadsri, L. and Jain, M. and Karimov, C. and Keena, B. and Klee, E.W. and Kloth, K. and Lace, B. and Macchiaiolo, M. and Marcadier, J.L. and Milunsky, J.M. and Napier, M.P. and Ortiz-Gonzalez, X.R. and Pichurin, P.N. and Pinner, J. and Powis, Z. and Prasad, C. and Radio, F.C. and Rasmussen, K.J. and Renaud, D.L. and Rush, E.T. and Saunders, C. and Selcen, D. and Seman, A.R. and Shinde, D.N. and Smith, E.D. and Smol, T. and Snijders Blok, L. and Stoler, J.M. and Tang, S. and Tartaglia, M. and Thompson, M.L. and van de Kamp, J.M. and Wang, J. and Weise, D. and Weiss, K. and Woitschach, R. and Wollnik, B. and Yan, H. and Zackai, E.H. and Zampino, G. and 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. and May, P. and Artomov, M. and Kobow, K. and Coras, R. and Pérez-Palma, E. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Leu, C. and Palotie, A. and Daly, M.J. and Klein, K.M. and Beschorner, R. and Weber, Y.G. and 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. and Wachowska, M. and Cook, E.C. and Lisowski, P. and Kuźniewska, B. and Szymańska, K. and Diecke, S. and Prigione, A. and Szczałuba, K. and Szybińska, A. and Koppolu, A. and Murcia Pienkowski, V. and Kosińska, J. and Wiweger, M. and Kostrzewa, G. and Brzozowska, M. and Domańska-Pakieła, D. and Jurkiewicz, E. and Stawiński, P. and Gromadka, A. and Zielenkiewicz, P. and Demkow, U. and Dziembowska, M. and Kuźnicki, J. and 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. and Lal, D. and May, P. and Reinthaler, E.M. and Jabbari, K. and Thiele, H. and Nothnagel, M. and Jurkowski, W. and Feucht, M. and Nürnberg, P. and Lerche, H. and Zimprich, F. and Krause, R. and Neubauer, B.A. and Reinthaler, E.M. and Zimprich, F. and Feucht, M. and Steinböck, H. and Neophytou, B. and Geldner, J. and Gruber-Sedlmayr, U. and Haberlandt, E. and Ronen, G.M. and Altmüller, J. and Lal, D. and Nürnberg, P. and Sander, T. and Thiele, H. and Krause, R. and May, P. and Balling, R. and 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. and Alvarez-Mora, M.I. and Rosell, J. and Rodríguez-Revenga, L. and Karlberg, O. and Sauer, S. and 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. and Nabuurs, S.B. and Verhaart, I.E.C. and Oudakker, A.R. and Hordijk, R. and Yntema, H.G. and Hordijk-Hos, J.M. and Voesenek, K. and de Vries, B.B.A. and van Essen, T. and Chen, W. and Hu, H. and Chelly, J. and den Dunnen, J.T. and Kalscheuer, V.M. and Aartsma-Rus, A.M. and Hamel, B.C.J. and 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. and Viviani Anselmi, C. and Krawitz, P. and Lattanzi, G. and von Kodolitsch, Y. and Perrot, A. and di Pasquale, E. and Papa, L. and Portararo, P. and Columbaro, M. and Forni, A. and Faggian, G. and 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. and Ruppert, V. and Ackermann, S. and Richter, A. and Perrot, A. and Sperling, S.R. and Posch, M.G. and 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. and Chen, W. and Moser, B. and Lipkowitz, B. and Schroeder, C. and Musante, L. and Tzschach, A. and Kalscheuer, V.M. and Meloni, I. and Raynaud, M. and van Esch, H. and Chelly, J. and de Brouwer, A.P. and Hackett, A. and van der Haar, S. and Henn, W. and Gecz, J. and Riess, O. and Bonin, M. and Reinhardt, R. and 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. and Hu, C.H. and Garshasbi, M. and Abedini, S.S. and Ghadami, S. and Kariminejad, R. and Ullmann, R. and Chen, W. and Ropers, H.H. and Kuss, A.W. and 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. and Meyer, T. and Struwe, C. and Petersen, J. and Perrot, A. and Posch, M.G. and Oezcelik, C. and Richter, A. and 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. and Ullmann, R. and Langnick, C. and Menzel, C. and Wotschofsky, Z. and Hu, H. and Doering, A. and Hu, Y. and Kang, H. and Tzschach, A. and Hoeltzenbein, M. and Neitzel, H. and Markus, S. and Wiedersberg, E. and Kistner, G. and van Ravenswaaij-Arts, C.M. and Kleefstra, T. and 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. and Chioza, B. and Aicardi, J. and Aschauer, H. and Brouwer, O. and Callenbach, P. and Covanis, A. and Dulac, O. and Eeg-Olofsson, O. and Feucht, M. and Friis, M. and Goutieres, F. and Guerrini, R. and Heils, A. and Kjeldsen, M. and Lehesjoki, A.E. and Makoff, A. and Nabbout, R. and Olsson, I. and Sander, T. and Siren, A. and McKeigue, P. and Robinson, R. and Taske, N. and 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. and Jensen, L.R. and Gecz, J. and Fryns, J.P. and Moraine, C. and de Brouwer, A. and Chelly, J. and Moser, B. and 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. and Lenzner, S. and Moser, B. and Freude, K. and Tzschach, A. and Chen, W. and Fryns, J.P. and Chelly, J. and Turner, G. and Moraine, C. and Hamel, B. and 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. and Spiegel, A. and Mey, D.a. and Pflug, H.J. and Al Kateb, H. and Hoffmann, K. and 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. and Kenner, O. and Nuernberg, P. and 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. and Perrot, A. and Wolter, B. and Dietz, R. and Cardim, N. and Correia, J.M. and Schulte, H.D. and Aldashev, A.A. and 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. and Filter, M. and Reis, A. and Hennies, H.C. and Bergheim, A. and Ogilvie, E. and Arndt, S. and Simmons, A. and Lovett, M. and Hide, W. and Ramsay, M. and Reichwald, K. and 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. and Bernstein, S.L. and 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. and Aslan, M. and Kalscheuer, V. and Ramsing, M. and Saar, K. and 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. and Rickman, L. and Whittock, N.V. and Eady, R.A. and Simrak, D. and Dopping-Hepenstal, P.J.C. and Stevens, H.P. and Armstrong, D.K.B. and Hennies, H.C. and Kuster, W. and Hughes, A.E. and Arnemann, J. and Leigh, I.M. and McGrath, J.A. and 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. and Seemanova, E. and Chrzanowska, K. and Hnateyko, O. and Piekutowska-Abramczuk, D. and Krajewska-Walasek, M. and Sykut-Cegielska, J. and 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. and Fonknechten, N. and Hoeltzenbein, M. and Neumann, L. and Bratanoff, E. and 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. and Krause, M. and Majewski, F. and Albrecht, B. and Horn, D. and 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. and Hoffmann, K. and Jeck, N. and Saar, K. and Boeswald, M. and Kuwertz-Broeking, E. and Meij, I.C. and Knoers, N.V.A.M. and Cochat, P. and Sulakova, T. and Bonzel, K.E. and Soergel, M. and Manz, F. and Schaerer, K. and Seyberth, H.W. and 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. and Landegren, U. and Syvanen, A.C. and Bork, P. and Stein, C. and 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. and Schindler, D. and Wegner, R.D. and Reis, A. and Wienker, T.F. and Hoehn, H. and Joenje, H. and 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. and Bajari, T. and Jouma, M. and Knoblauch, H. and Aydin, A. and Bähring, S. and Mueller-Myhsok, B. and Dresel, A. and Joubran, R. and 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. and Romeo, G. and Tankate, L.P. and Chevalier, F. and Bozon, D. and Estivill, X. and Casals, T. and Abeliovich, D. and Lerer, I. and Padoan, R. and Seia, M. and Hill, A. and Liechtigallati, S. and Kramer, R. and Beards, F. and Dear, S. and Dallapiccola, B. and Sangiuolo, F. and Macek, M. and McMahon, R. and Connarty, M. and Harvey, J.F. and Claustres, M. and Desgeorges, M. and Devries, R. and Scheffer, H. and Cankiklain, N. and Audrezet, M.P. and Bienvenu, T. and Chomel, J.C. and Dziadek, V. and Tummler, B. and Schwarz, M. and Haworth, A. and Benitez, J. and Fernandez, E. and Mazurczak, T. and Bal, J. and Cremonesi, L. and Ronchetto, P. and Cashman, S.M. and Ferec, C. and Cuppens, H. and Bauer, I. and Angelicheva, D. and Wagner, K. and Pacheco, P. and Bonizzato, A. and Witt, M. and McMahon, C.J. and Ravnikglavac, M. and Reis, A. and Stuhrmann, M. and Garnerone, S. and Curtis, A. and Gruning, G. and Kanavakis, E. and Klaassen, T. and Grade, K.
European Journal of Human Genetics 3 (5): 324-325. 1 January 1995