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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, F. and Schuler, E. and Al-Maawali, A. and Chaurasia, A. and Syrbe, S. and Al-Kindi, A. and Bhavani, G.S. and Shukla, A. and Altmüller, J. and Nürnberg, P. and Banka, S. and Girisha, K.M. and Li, Y. and Wollnik, B. and Yigit, G.
Human Genetics 142 (4): 543-552. April 2023


A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
Cinque, L. and Micale, L. and Manara, E. and Esposito, A. and Palumbo, O. and Chiariello, A.M. and Bianco, S. and Guerri, G. and Bertelli, M. and Giuffrida, M.G. and Bernardini, L. and Notarangelo, A. and Nicodemi, M. and Castori, M.
Human Genetics 141 (2): 217-227. February 2022


Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J. and Goergens, J. and Pochechueva, T. and Kotter, A. and Schwenzer, N. and Sitte, M. and Werner, G. and Altmueller, J. and Thiele, H. and Nürnberg, P. and Isensee, J. and Li, Y. and Müller, C. and Leube, B. and Reinhardt, H.C. and Hucho, T. and Salinas, G. and Helm, M. and Jachimowicz, R.D. and Wieczorek, D. and Kohl, T. and Lehnart, S.E. and Yigit, G. and Wollnik, B.
Human Genetics 140 (12): 1679-1693. December 2021

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, A.E. and Hedergott, A. and Preising, M. and Rading, S. and Fricke, J. and Herkenrath, P. and Nürnberg, P. and Altmüller, J. and von Ameln, S. and Lorenz, B. and Neugebauer, A. and Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona, B. and Mazaheri, N. and Lin, S.J. and Dunbar, L.A. and Maroofian, R. and Azaiez, H. and Booth, K.T. and Vitry, S. and Rad, A. and Rüschendorf, F. and Varshney, P. and Fowler, B. and Beetz, C. and Alagramam, K.N. and Murphy, D. and Shariati, G. and Sedaghat, A. and Houlden, H. and Petree, C. and VijayKumar, S. and Smith, R.J.H. and Haaf, T. and El-Amraoui, A. and Bowl, M.R. and Varshney, G.K. and Galehdari, H.
Human Genetics 140 (6): 915-931. June 2021


De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R. and Berger, H. and Till, K. and Salinas, G. and Sturm, M. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Funke, R. and Apeshiotis, N. and Langen, H. and Wollnik, B. and Borchers, A. and Pauli, S.
Human Genetics 139 (11): 1363-1379. November 2020


Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, N.C. and Lüdecke, H.J. and Hamdan, F.F. and Altmüller, J. and Beleggia, F. and Elcioglu, N.H. and Freyer, C. and Gerkes, E.H. and Demirkol, Y.K. and Knupp, K.G. and Kuechler, A. and Li, Y. and Lowenstein, D.H. and Michaud, J.L. and Park, K. and Stegmann, A.P.A. and Veenstra-Knol, H.E. and Wieland, T. and Wollnik, B. and Engels, H. and Strom, T.M. and Kleefstra, T. and Wieczorek, D.
Human Genetics 136 (7): 821-834. July 2017


A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, S. and Hussain, M.S. and Sur, I. and Altmüller, J. and Thiele, H. and Abdullah, U. and Waseem, S.S. and Moawia, A. and Nürnberg, G. and Noegel, A.A. and Baig, S.M. and Nürnberg, P.
Human Genetics 135 (2): 157-170. February 2016


Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S. and Mizumoto, S. and Kogawa, R. and Becker, C. and Altmüller, J. and Thiele, H. and Rueschendorf, F. and Toliat, M.R. and Kaleschke, G. and Haemmerle, J.M. and Hoehne, W. and Sugahara, K. and Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Kakar, N. and Ahmad, J. and Morris-Rosendahl, D.J. and Altmüller, J. and Friedrich, K. and Barbi, G. and Nürnberg, P. and Kubisch, C. and Dobyns, W.B. and Borck, G.
Human Genetics 134 (1): 45-51. January 2015


The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.
Aranda-Orgilles, B. and Trockenbacher, A. and Winter, J. and Aigner, J. and Koehler, A. and Jastrzebska, E. and Stahl, J. and Mueller, E.C. and Otto, A. and Wanker, E.E. and Schneider, R. and Schweiger, S.
Human Genetics 123 (2): 163-176. March 2008


Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi, H. and Motazacker, M.M. and Garshasbi, M. and Kahrizi, K. and Tzschach, A. and Chen, W. and Behjati, F. and Hadavi, V. and Nieh, S.E. and Abedini, S.S. and Vazifehmand, R. and Firouzabadi, S.G. and Jamali, P. and Falah, M. and Seifati, S.M. and Grueters, A. and Lenzner, S. and Jensen, L.R. and Rueschendorf, F. and Kuss, A.W. and Ropers, H.H.
Human Genetics 121 (1): 43-48. March 2007


A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Budny, B. and Chen, W. and Omran, H. and Fliegauf, M. and Tzschach, A. and Wisniewska, M. and Jensen, L.R. and Raynaud, M. and Shoichet, S.A. and Badura, M. and Lenzner, S. and Latos-Bielenska, A. and Ropers, H.H.
Human Genetics 120 (2): 171-178. September 2006

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Wolf, M.T. and Mucha, B.E. and Hennies, H.C. and Attanasio, M. and Panther, F. and Zalewski, I. and Karle, S.M. and Otto, E.A. and Deltas, C.C. and Fuchshuber, A. and Hildebrandt, F.
Human Genetics 119 (6): 649-658. July 2006

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi, M. and Motazacker, M.M. and Kahrizi, K. and Behjati, F. and Abedini, S.S. and Nieh, S.E. and Firouzabadi, S.G. and Becker, C. and Rueschendorf, F. and Nuernberg, P. and Tzschach, A. and Vazifehmand, R. and Erdogan, F. and Ullmann, R. and Lenzner, S. and Kuss, A.W. and Ropers, H.H. and Najmabadi, H.
Human Genetics 118 (6): 708-715. February 2006


Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
Miller, K. and Pabst, B. and Ritter, H. and Nuernberg, P. and Siebert, R. and Schmidtke, J. and Arslan-Kirchner, M.
Human Genetics 112 (4): 343-347. April 2003

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter, J. and Lehmann, T. and Suckow, V. and Kijas, Z. and Kulozik, A. and Kalscheuer, V. and Hamel, B. and Devriendt, K. and Opitz, J. and Lenzner, S. and Ropers, H.H. and Schweiger, S.
Human Genetics 112 (3): 249-254. March 2003

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
Eckl, K.M. and Stevens, H.P. and Lestringant, G.G. and Westenberger-Treumann, M. and Traupe, H. and Hinz, B. and Frossard, P.M. and Stadler, R. and Leigh, I.M. and Nuernberg, P. and Reis, A. and Hennies, H.C.
Human Genetics 112 (1): 50-56. January 2003


Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
Stoeber, G. and Seelow, D. and Rueschendorf, F. and Ekici, A. and Beckmann, H. and Reis, A.
Human Genetics 111 (4-5): 323-330. October 2002

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns, K. and Pfister, M. and Pennings, R.J.E. and Bom, S.J.H. and Flothmann, K. and Caethoven, G. and Kremer, H. and Schatteman, I. and Koeln, K.A. and Toth, T. and Kupka, S. and Blin, N. and Nuernberg, P. and Thiele, H. and van de Heyning, P.H. and Reardon, W. and Stephens, D. and Cremers, C.W.R.J. and Smith, R.J.H. and Van Camp, G.
Human Genetics 110 (5): 389-394. May 2002

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Aung, T. and Ocaka, L. and Ebenezer, N.D. and Morris, A.G. and Krawczak, M. and Thiselton, D.L. and Alexander, C. and Votruba, M. and Brice, G. and Child, A.H. and Francis, P.J. and Hitchings, R.A. and Lehmann, O.J. and Bhattacharya, S.S.
Human Genetics 110 : 52-56. 1 January 2002


A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
Thiselton, D.L. and Alexander, C. and Morris, A. and Brooks, S. and Rosenberg, T. and Eiberg, H. and Kjer, B. and Kjer, P. and Bhattacharya, S.S. and Votruba, M.
Human Genetics 109 : 498-502. 1 November 2001

Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
Sauermann, U. and Nuernberg, P. and Bercovitch, F.B. and Berard, J.D. and Trefilov, A. and Widdig, A. and Kessler, M. and Schmidtke, J. and Krawczak, M.
Human Genetics 108 (3): 249-254. 7 March 2001

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
Chandler, D. and Tinschert, S. and Lohan, K. and Harrop, K. and Goldblatt, J. and Nagy, M. and Hummel, S. and Braun, H.S. and Laing, N. and Nuernberg, P.
Human Genetics 108 : 394-397. 1 January 2001


Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.
Winterer, G. and Smolka, M. and Smochowiec, J. and Mulert, C. and Ziller, M. and Mahlberg, R. and Wuebben, Y. and Gallinat, J. and Rommelspacher, H. and Herrman, W.M. and Sander, T.
Human Genetics 107 : 513-518. 1 November 2000


Detection of 6q deletions in breast carcinoma cell lines by fluorescence in situ hybridization.
Zhang, Y.M. and Matthiesen, P. and Siebert, R. and Harder, S. and Theile, M. and Scherneck, S. and Schlegelberger, B.
Human Genetics 103 : 727-729. 1 December 1998

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
Hennies, H.C. and Raghunath, M. and Wiebe, V. and Vogel, M. and Velten, F. and Traupe, H. and Reis, A.
Human Genetics 102 : 314-318. 1 January 1998


Localization of the gene for Wieacker Wolff syndrome in the pericentromeric region of the X chromosome.
Kloos, D.U. and Jakubiczka, S. and Wienker, T.F. and Wolff, G. and Wieacker, P.
Human Genetics 100 : 426-430. 1 January 1997

Localisation of a gene for Papillon-Lefevre syndrome to chromosome 11q14-q21 by homozygosity mapping.
Laass, M.W. and Hennies, H.C. and Preis, S. and Stevens, H.P. and Jung, M. and Leigh, I.M. and Wienker, T.F. and Reis, A.
Human Genetics 101 : 376-382. 1 January 1997

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with female survival.
Macek, M. and Krebsova, A. and Nash, E. and Hamosh, A. and Reis, A. and Varon-Mateeva, R. and Schmidtke, J. and Maestri, N.E. and Sperling, K. and Krawczak, M. and Cutting, G.R.
Human Genetics 99 : 565-572. 1 January 1997

The role of oxygen metabolism for the pathological phenotype of fanconi anemia.
Ruppitsch, W. and Meisslitzer, C. and Weirichschwaiger, H. and Klocker, H. and Scheidereit, C. and Schweiger, M. and Hirschkauffmann, M.
Human Genetics 99 : 710-719. 1 January 1997


Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
Oksche, A. and Moeller, A. and Dickson, J. and Rosendahl, W. and Rascher, W. and Bichet, D.G. and Rosenthal, W.
Human Genetics 98 (5): 587-589. November 1996

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.
Buerger, J. and Metzke, H. and Paternotte, C. and Schilling, F. and Hazan, J. and Reis, A.
Human Genetics 98 : 371-375. 1 January 1996

DNA polymorphisms in adhesion molecule genes: a new risk factor for early atherosclerosis.
Wenzel, K. and Ernst, M. and Rohde, K. and Baumann, G. and Speer, A.
Human Genetics 97 (1): 15-20. 1 January 1996


Mapping of a human rRNA gene in the YAC contig surrounding the sma candidate gene.
Huschenbett, J. and Gasch, A. and Katzer, A. and Affeldt, M. and Speer, A.
Human Genetics 96 (3): 335-338. 1 January 1995


Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.
Grade, K. and Grunewald, I. and Graupner, I. and Behrens, F. and Coutelle, C.
Human Genetics 94 : 154-158. 1 January 1994

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
Hennies, H.C. and Zehender, D. and Kunze, J. and Kuester, W. and Reis, A.
Human Genetics 93 : 649-654. 1 January 1994

Fine mapping of human PI 3-kinase associated p85 alpha transcripts in the YAC contig surrounding the spinal muscular atrophy gene.
Huschenbett, J. and Gasch, A. and Katzer, A. and Speer, A.
Human Genetics 94 : 427-431. 1 January 1994

Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.
Jung, U. and Urner, U. and Grade, K. and Coutelle, C.
Human Genetics 94 : 19-24. 1 January 1994

Skipping of multiple CFTR exons is not a result of single exon omissions.
Rickers, A. and Rininsland, F. and Osborne, L. and Reiss, J.
Human Genetics 94 : 311-313. 1 January 1994

Polymorphism in the human E-selectin gene detected by PCR- SSCP.
Wenzel, K. and Hanke, R. and Speer, A.
Human Genetics 94 : 452-453. 1 January 1994


Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
Schuster, H. and Fischer, H.J. and Keller, C. and Wolfram, G. and Zoellner, N.
Human Genetics 91 : 287-289. 1 January 1993


Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene - a european study.
van Essen, A.J. and Abbs, S. and Baiget, M. and Bakker, E. and Boileau, C. and van Broeckhoven, C. and Bushby, K. and Clarke, A. and Claustres, M. and Covone, A.E. and Ferrari, M. and Ferlini, A. and Galluzzi, G. and Grimm, T. and Grubben, C. and Jeanpierre, M. and Kaariainen, H. and Liechtigallati, S. and Melis, M.A. and van Ommen, G.J.B. and Poncin, J.E. and Scheffer, H. and Schwartz, M. and Speer, A. and Stuhrmann, M. and Verellen-Dumoulin, C. and Wilcox, D.E. and Tenkate, L.P.
Human Genetics 88 (3): 249-257. 1 January 1992


A pooling strategy for heterozygote screening of the lamdaF508 cystic fibrosis mutation.
Gille, C. and Grade, K. and Coutelle, C.
Human Genetics 86 : 289-291. 1 January 1991

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