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WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, N. and Krawczyk, H.E. and Jamra, R.A. and Lin, S.J. and Yigit, G. and Hüning, I. and Polo, A.M. and Vona, B. and Huang, K. and Schmidt, J. and Altmüller, J. and Luppe, J. and Platzer, K. and Dörgeloh, B.B. and Busche, A. and Biskup, S. and Mendes, M.I. and Smith, D.E.C. and Salomons, G.S. and Zibat, A. and Bültmann, E. and Nürnberg, P. and Spielmann, M. and Lemke, J.R. and Li, Y. and Zenker, M. and Varshney, G.K. and Hillen, H.S. and Kratz, C.P. and Wollnik, B.
Human Mutation 43 (10): 1454-1471. October 2022

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin, S.J. and Vona, B. and Porter, H.M. and Izadi, M. and Huang, K. and Lacassie, Y. and Rosenfeld, J.A. and Khan, S. and Petree, C. and Ali, T.A. and Muhammad, N. and Khan, S.A. and Muhammad, N. and Liu, P. and Haymon, M.L. and Rüschendorf, F. and Kong, I.K. and Schnapp, L. and Shur, N. and Chorich, L. and Layman, L. and Haaf, T. and Pourkarimi, E. and Kim, H.G. and Varshney, G.K.
Human Mutation 43 (10): 1472-1489. October 2022

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Marko, H.L. and Hornig, N.C. and Betz, R.C. and Holterhus, P.M. and Altmüller, J. and Thiele, H. and Fabiano, M. and Schweikert, H.U. and Braun, D. and Schweizer, U.
Human Mutation 43 (3): 420-433. March 2022


Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N. and Paketci, C. and Altmueller, J. and Fuhrmann, N. and Wunderlich, G. and Schrank, B. and Unver, O. and Yilmaz, S. and Boostani, R. and Karimiani, E.G. and Motameny, S. and Thiele, H. and Nürnberg, P. and Maroofian, R. and Yis, U. and Wirth, Br. and Karakaya, M.
Human Mutation 42 (4): 460-472. April 2021


The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit, G. and Saida, K. and DeMarzo, D. and Miyake, N. and Fujita, A. and Yang Tan, T. and White, S.M. and Wadley, A. and Toliat, M.R. and Motameny, S. and Franitza, M. and Stutterd, C.A. and Chong, P.F. and Kira, R. and Sengoku, T. and Ogata, K. and Guillen Sacoto, M.J. and Fresen, C. and Beck, B.B. and Nürnberg, P. and Dieterich, C. and Wollnik, B. and Matsumoto, N. and Altmüller, J.
Human Mutation 41 (3): 591-599. March 2020


Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Kolokotronis, K. and Kühnisch, J. and Klopocki, E. and Dartsch, J. and Rost, S. and Huculak, C. and Mearini, G. and Störk, S. and Carrier, L. and Klaassen, S. and Gerull, B.
Human Mutation 40 (8): 1101-1114. August 2019


An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptors.
Kleinau, G. and Kreuchwig, A. and Worth, C.L. and Krause, G.
Human Mutation 31 (6): E1519-E1525. June 2010

Quantifying the effect of sequence variation on regulatory interactions.
Manke, T. and Heinig, M. and Vingron, M.
Human Mutation 31 (4): 477-483. April 2010


Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
Lebrun, A.H. and Storch, S. and Rueschendorf, F. and Schmiedt, M.L. and Kyttaelae, A. and Mole, S.E. and Kitzmueller, C. and Saar, K. and Mewasingh, L.D. and Boda, V. and Kohlschuetter, A. and Ullrich, K. and Braulke, T. and Schulz, A.
Human Mutation 30 (5): E651-E661. May 2009


A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
Fokstuen, S. and Lyle, R. and Munoz, A. and Gehrig, C. and Lerch, R. and Perrot, A. and Osterziel, K.J. and Geier, C. and Beghetti, M. and Mach, F. and Sztajzel, J. and Sigwart, U. and Antonarakis, S.E. and Blouin, J.L.
Human Mutation 29 (6): 879-885. June 2008


Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
Bocciardi, R. and Giorda, R. and Buttgereit, J. and Gimelli, S. and Divizia, M.T. and Beri, S. and Garofalo, S. and Tavella, S. and Lerone, M. and Zuffardi, O. and Bader, M. and Ravazzolo, R. and Gimelli, G.
Human Mutation 28 (7): 724-731. July 2007

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann, R. and Turner, G. and Kirchhoff, M. and Chen, W. and Tonge, B. and Rosenberg, C. and Field, M. and Vianna-Morgante, A.M. and Christie, L. and Krepischi-Santos, A.C. and Banna, L. and Brereton, A.V. and Hill, A. and Bisgaard, A.M. and Mueller, I. and Hultschig, C. and Erdogan, F. and Wieczorek, G. and Ropers, H.H.
Human Mutation 28 (7): 674-682. July 2007


SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
Elsharawy, A. and Manaster, C. and Teuber, M. and Rosenstiel, P. and Kwiatkowski, R. and Huse, K. and Platzer, M. and Becker, A. and Nuernberg, P. and Schreiber, S. and Hampe, J.
Human Mutation 27 : 1129-1134. November 2006

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay, E. and Li, Y. and Uzumcu, A. and Uyguner, O. and Collin, R.W. and Caylan, R. and Ulubil-Emiroglu, M. and Kersten, F.F. and Hafiz, G. and van Wijk, E. and Kayserili, H. and Rohmann, E. and Wagenstaller, J. and Hoefsloot, L.H. and Strom, T.M. and Nuernberg, G. and Baserer, N. and den Hollander, A.I. and Cremers, F.P. and Cremers, C.W. and Becker, C. and Brunner, H.G. and Nuernberg, P. and Karaguzel, A. and Basaran, S. and Kubisch, C. and Kremer, H. and Wollnik, B.
Human Mutation 27 : 633-639. July 2006

GENOMIZER: an integrated analysis system for genome-wide association data.
Franke, A. and Wollstein, A. and Teuber, M. and Wittig, M. and Lu, T. and Hoffmann, K. and Nuernberg, P. and Krawczak, M. and Schreiber, S. and Hampe, J.
Human Mutation 27 : 583-588. June 2006

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
Wenzel, K. and Carl, M. and Perrot, A. and Zabojszcza, J. and Assadi, M. and Ebeling, M. and Geier, C. and Robinson, P.N. and Kress, W. and Osterziel, K.J. and Spuler, S.
Human Mutation 27 : 599-600. June 2006

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Stadt, U.Z. and Beutel, K. and Kolberg, S. and Schneppenheim, R. and Kabisch, H. and Janka, G. and Hennies, H.C.
Human Mutation 27 (1): 62-68. January 2006


Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
Sperling, S. and Grimm, C.H. and Dunkel, I. and Mebus, S. and Sperling, H.P. and Ebner, A. and Galli, R. and Lehrach, H. and Fusch, C. and Berger, F. and Hammer, S.
Human Mutation 26 (6): 575-582. December 2005

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch, S. and Lumsden, A. and Guenther, U.P. and Foernzler, D. and Christen-Zaech, S. and Daugherty, C. and Ramesar, R.K. and Lebwohl, M. and Hohl, D. and Neldner, K.H. and Lindpaintner, K. and Richards, R.I. and Struk, B.
Human Mutation 26 (3): 235-248. 1 September 2005

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl, K.M. and Krieg, P. and Kuester, W. and Traupe, H. and Andre, F. and Wittstruck, N. and Fuerstenberger, G. and Hennies, H.C.
Human Mutation 26 (4): 351-361. 22 August 2005

Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Kulle, B. and Schirmer, M. and Toliat, M.R. and Suk, A. and Becker, C. and Tzvetkov, M.V. and Brockmoeller, J. and Bickeboeller, H. and Hasenfuss, G. and Nuernberg, P. and Wojnowski, L.
Human Mutation 25 (6): 557-565. 1 January 2005

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) [Erratum in: Hum Mutat. vol 26, pg 495-6, 2005].
Ruf, N. and Uhlenberg, B. and Terkeltaub, R. and Nuernberg, P. and Rutsch, F.
Human Mutation 25 (1): 98. 1 January 2005


Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method.
Hofmann, W. and Goergens, H. and John, A. and Horn, D. and Huettner, C. and Arnold, N. and Scherneck, S. and Schackert, H.K.
Human Mutation 22 (1): 103-104. 1 July 2003

A phylogenetic approach to assessing the significance of missense mutations in disease genes.
Koref, M.E.S. and Gangeswaran, R. and Koref, I.P.S. and Shanahan, N. and Hancock, J.M.
Human Mutation 22 (1): 51-58. July 2003


Go!Poly: A gene-oriented polymorphism database.
Zhang, G. and Zhang, S. and Chen, W. and Qiu, W. and Wu, H. and Wang, J. and Luo, J. and Gu, X. and Cotton, R.G.
Human Mutation 18 (5): 382-387. November 2001

Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66.
Delbrueck, S.J.W. and Kidd, K.K. and Hoehe, M.R.
Human Mutation 17 (6): 524. June 2001

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
Hoffmann, B. and Schmidt-Traub, H. and Perrot, A. and Osterziel, K.J. and Gessner, R.
Human Mutation 17 (6): 524. June 2001

Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes.
Immervoll, T. and Loesgen, S. and Duetsch, G. and Gohlke, H. and Herbon, N. and Klugbauer, S. and Dempfle, A. and Bickeboeller, H. and Becker-Follmann, J. and Rueschendorf, F. and Saar, K. and Reis, A. and Wichmann, H.E. and Wjst, M.
Human Mutation 18 : 327-336. 1 January 2001

Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information.
Rohde, K. and Fuerst, R.
Human Mutation 17 (4): 289-295. 1 January 2001


A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6).
Aguilera, I. and Garcia-Lozano, J.R. and Bautista, J. and Nunez-Roldan, A.
Human Mutation 13 : 259. 1 December 1999


A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
Gerull, B. and Osterziel, K.J. and Witt, C. and Dietz, R. and Thierfelder, L.
Human Mutation 11 : 179-182. 1 January 1998

Novel DNA sequence differences in the beta 2- adrenergic receptor gene promoter region.
Timmermann, B. and Li, G.H. and Luft, F.C. and Lund-Johansen, P. and Skrabal, F. and Hoehe, M.R.
Human Mutation 11 : 343-344. 1 January 1998

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
Kubisch, C. and Wicklein, E.M. and Jentsch, T.J.
Human Mutation 12 (1): 27-32. 1998


A novel mutation in the BRCA1 gene in a German early-onset breast cancer family.
Waindzoch, B. and Grade, K. and Jandrig, B. and Mueller, M. and Schlag, P.M. and Scherneck, S.
Human Mutation 8 : 393. 1 January 1996


Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Tuffery, S. and Lenk, U. and Roberts, R.G. and Coubes, C. and Demaille, J. and Claustres, M.
Human Mutation 6 (2): 126-135. 1 January 1995

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
Varon, R. and Stuhrmann, M. and Macek, M. and Kufardjieva, A. and Angelicheva, D. and Magdorf, K. and Jordanova, A. and Savov, A. and Wahn, U. and Lalov, V. and Ivanova, T. and Ellemunter, H. and Vavrova, V. and Ferak, V. and Kayserova, H. and Reis, A. and Kalaydjieva, L.
Human Mutation 6 : 219-225. 1 January 1995


A 32-bp deletion (2991DEL32) in the cystic-fibrosis gene associated with CFTR messenger-RNA reduction.
Dork, T. and Will, K. and Grade, K. and Krawczak, M. and Tummler, B.
Human Mutation 4 : 65-70. 1 January 1994

Population variation of common cystic fibrosis mutations.
Reis, A.
Human Mutation 4 : 167-177. 1 January 1994


Prevalence of cystic fibrosis mutations in the east german population.
Coutelle, C. and Brueckner, R. and Grade, K. and Behrens, F. and Gedschold, J. and Hein, J. and Szibor, R. and Bauer, I. and Brock, J. and Graupner, I. and Urner, U. and Leucht, B.
Human Mutation 1 : 109-112. 1 January 1992

This list was generated on Tue Feb 7 02:33:14 2023 CET.
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