2024

Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3).
Susgun, S. ORCID: https://orcid.org/0000-0001-9689-3111, Ben-Mahmoud, A. ORCID: https://orcid.org/0000-0003-3520-8015, Rüschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Ku, B. ORCID: https://orcid.org/0000-0003-1784-8975, Hussain, S.I. ORCID: https://orcid.org/0000-0003-1589-7626, Schulz, S. ORCID: https://orcid.org/0009-0004-4522-4486, Puk, O. ORCID: https://orcid.org/0000-0002-4302-6513, Biskup, S. ORCID: https://orcid.org/0000-0002-1573-861X, Labonne, J.D.J., Don, D.W. ORCID: https://orcid.org/0000-0003-3372-0349, Gupta, V. ORCID: https://orcid.org/0000-0002-3613-6378, Choi, T.I. ORCID: https://orcid.org/0000-0003-2667-3804, Khan, S. ORCID: https://orcid.org/0000-0001-5037-1473, Wasif, N. ORCID: https://orcid.org/0000-0002-3455-8833, Lacassie, Y. ORCID: https://orcid.org/0000-0002-6231-4967, Layman, L.C. ORCID: https://orcid.org/0000-0002-7369-9575, Ugur Iseri, S.A. ORCID: https://orcid.org/0000-0002-5790-6853, Kim, C.H. ORCID: https://orcid.org/0000-0002-3019-0699 and Kim, H.G. ORCID: https://orcid.org/0000-0003-4497-4686
Human Mutation 2024 : 1-13. 5 January 2024

2022

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, N., Krawczyk, H.E., Jamra, R.A., Lin, S.J. ORCID: https://orcid.org/0000-0002-7559-6529, Yigit, G., Hüning, I., Polo, A.M., Vona, B. ORCID: https://orcid.org/0000-0002-6719-3447, Huang, K., Schmidt, J., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Luppe, J., Platzer, K., Dörgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M. ORCID: https://orcid.org/0000-0003-1618-9269, Varshney, G.K., Hillen, H.S., 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. ORCID: https://orcid.org/0000-0002-7559-6529, Vona, B. ORCID: https://orcid.org/0000-0002-6719-3447, Porter, H.M. ORCID: https://orcid.org/0000-0002-9554-8006, Izadi, M. ORCID: https://orcid.org/0000-0002-7203-0220, Huang, K. ORCID: https://orcid.org/0000-0002-2512-7812, Lacassie, Y. ORCID: https://orcid.org/0000-0002-6231-4967, Rosenfeld, J.A. ORCID: https://orcid.org/0000-0001-5664-7987, Khan, S. ORCID: https://orcid.org/0000-0001-5037-1473, Petree, C. ORCID: https://orcid.org/0000-0002-9379-2400, Ali, T.A. ORCID: https://orcid.org/0000-0003-1823-7690, Muhammad, N., Khan, S.A. ORCID: https://orcid.org/0000-0001-5436-8917, Muhammad, N. ORCID: https://orcid.org/0000-0002-8421-7615, Liu, P. ORCID: https://orcid.org/0000-0002-4177-709X, Haymon, M.L., Rüschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Kong, I.K. ORCID: https://orcid.org/0000-0002-1906-9898, Schnapp, L., Shur, N., Chorich, L. ORCID: https://orcid.org/0000-0001-7060-9872, Layman, L. ORCID: https://orcid.org/0000-0002-7369-9575, Haaf, T., Pourkarimi, E. ORCID: https://orcid.org/0000-0001-9598-3465, Kim, H.G. ORCID: https://orcid.org/0000-0003-4497-4686 and Varshney, G.K. ORCID: https://orcid.org/0000-0002-0429-1904
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., Hornig, N.C., Betz, R.C., Holterhus, P.M., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Fabiano, M., Schweikert, H.U., Braun, D. and Schweizer, U. ORCID: https://orcid.org/0000-0003-1380-4780
Human Mutation 43 (3): 420-433. March 2022

2021

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N., Paketci, C., Altmueller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br. ORCID: https://orcid.org/0000-0003-4051-5191 and Karakaya, M. ORCID: https://orcid.org/0000-0001-5395-8894
Human Mutation 42 (4): 460-472. April 2021

2020

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit, G., Saida, K., DeMarzo, D., Miyake, N. ORCID: https://orcid.org/0000-0003-0987-310X, Fujita, A., Yang Tan, T., White, S.M., Wadley, A., Toliat, M.R., Motameny, S., Franitza, M., Stutterd, C.A., Chong, P.F., Kira, R., Sengoku, T. ORCID: https://orcid.org/0000-0001-9461-8714, Ogata, K., Guillen Sacoto, M.J., Fresen, C., Beck, B.B., Nürnberg, P., Dieterich, C., Wollnik, B. ORCID: https://orcid.org/0000-0003-2589-0364, Matsumoto, N. and Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521
Human Mutation 41 (3): 591-599. March 2020

2019

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Kolokotronis, K., Kühnisch, J. ORCID: https://orcid.org/0000-0003-4744-5421, Klopocki, E. ORCID: https://orcid.org/0000-0003-1438-2081, Dartsch, J. ORCID: https://orcid.org/0000-0002-7947-2881, Rost, S., Huculak, C., Mearini, G., Störk, S. ORCID: https://orcid.org/0000-0002-1771-7249, Carrier, L. ORCID: https://orcid.org/0000-0001-8776-5820, Klaassen, S. ORCID: https://orcid.org/0000-0001-5925-9912 and Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826
Human Mutation 40 (8): 1101-1114. August 2019

2018

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya, M. ORCID: https://orcid.org/0000-0001-5395-8894, Storbeck, M., Strathmann, E.A., Delle Vedove, A., Hölker, I., Altmueller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Naghiyeva, L., Schmitz-Steinkrüger, L., Vezyroglou, K., Motameny, S., Alawbathani, S., Thiele, H., Polat, A.I., Okur, D., Boostani, R., Karimiani, E.G., Wunderlich, G., Ardicli, D., Topaloglu, H., Kirschner, J., Schrank, B., Maroofian, R., Magnusson, O., Yis, U., Nürnberg, P., Heller, R. and Wirth, B. ORCID: https://orcid.org/0000-0003-4051-5191
Human Mutation 39 (9): 1284-1298. September 2018

2017

The role of de novo mutations in the development of amyotrophic lateral sclerosis.
van Doormaal, P.T.C. ORCID: https://orcid.org/0000-0001-8047-0288, Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M, Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nürnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V. and Volk, A.E.
Human Mutation 38 (11): 1534-1541. November 2017

2014

Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U. and Bolz, H.J.
Human Mutation 35 (10): 1153-1162. October 2014

2013

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga, R.E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Alvarez, V., Gamez, J., Garbern, J.Y., Nürnberg, P., Zuchner, S. and Beetz, C.
Human Mutation 34 (6): 860-863. 20 May 2013

2012

Assessing the enrichment performance in targeted resequencing experiments.
Frommolt, P., Abdallah, A.T., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Thiele, H., Becker, C., Stemshorn, K., Fischer, M., Freilinger, T. and Nürnberg, P.
Human Mutation 33 (4): 635-41. April 2012

2010

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., Kreuchwig, A., Worth, C.L. ORCID: https://orcid.org/0000-0002-1796-9606 and Krause, G.
Human Mutation 31 (6): E1519-E1525. June 2010

Quantifying the effect of sequence variation on regulatory interactions.
Manke, T., Heinig, M. ORCID: https://orcid.org/0000-0002-5612-1720 and Vingron, M.
Human Mutation 31 (4): 477-483. April 2010

2009

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
Lebrun, A.H., Storch, S., Rueschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Schmiedt, M.L., Kyttaelae, A., Mole, S.E., Kitzmueller, C., Saar, K., Mewasingh, L.D., Boda, V., Kohlschuetter, A., Ullrich, K., Braulke, T. and Schulz, A. ORCID: https://orcid.org/0000-0002-4576-8035
Human Mutation 30 (5): E651-E661. May 2009

2008

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
Fokstuen, S., Lyle, R., Munoz, A., Gehrig, C., Lerch, R., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Osterziel, K.J., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Beghetti, M., Mach, F., Sztajzel, J., Sigwart, U., Antonarakis, S.E. and Blouin, J.L.
Human Mutation 29 (6): 879-885. June 2008

2007

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., Giorda, R., Buttgereit, J., Gimelli, S., Divizia, M.T., Beri, S., Garofalo, S., Tavella, S., Lerone, M., Zuffardi, O., Bader, M. ORCID: https://orcid.org/0000-0003-4780-4164, 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., Turner, G., Kirchhoff, M. ORCID: https://orcid.org/0000-0002-2324-2761, Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627, Tonge, B., Rosenberg, C., Field, M., Vianna-Morgante, A.M., Christie, L., Krepischi-Santos, A.C., Banna, L., Brereton, A.V., Hill, A., Bisgaard, A.M., Mueller, I., Hultschig, C., Erdogan, F., Wieczorek, G. and Ropers, H.H.
Human Mutation 28 (7): 674-682. July 2007

2006

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
Elsharawy, A., Manaster, C., Teuber, M., Rosenstiel, P., Kwiatkowski, R., Huse, K., Platzer, M., Becker, A., Nuernberg, P., 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., Li, Y., Uzumcu, A., Uyguner, O., Collin, R.W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F.F., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., Wagenstaller, J., Hoefsloot, L.H., Strom, T.M., Nuernberg, G., Baserer, N., den Hollander, A.I., Cremers, F.P., Cremers, C.W., Becker, C., Brunner, H.G., Nuernberg, P., Karaguzel, A., Basaran, S., Kubisch, C., Kremer, H. and Wollnik, B.
Human Mutation 27 : 633-639. July 2006

GENOMIZER: an integrated analysis system for genome-wide association data.
Franke, A., Wollstein, A., Teuber, M., Wittig, M., Lu, T., Hoffmann, K., Nuernberg, P., Krawczak, M., 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., Carl, M., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Zabojszcza, J. ORCID: https://orcid.org/0000-0001-8810-0492, Assadi, M., Ebeling, M., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Robinson, P.N., Kress, W., Osterziel, K.J. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
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., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, H.C. ORCID: https://orcid.org/0000-0001-7210-2389
Human Mutation 27 (1): 62-68. January 2006

2005

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
Sperling, S. ORCID: https://orcid.org/0000-0002-7135-3298, Grimm, C.H., Dunkel, I., Mebus, S., Sperling, H.P., Ebner, A., Galli, R., Lehrach, H., Fusch, C., 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., Lumsden, A., Guenther, U.P., Foernzler, D., Christen-Zaech, S., Daugherty, C., Ramesar, R.K., Lebwohl, M., Hohl, D., Neldner, K.H., Lindpaintner, K., 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. ORCID: https://orcid.org/0000-0001-8838-3998, Krieg, P., Kuester, W., Traupe, H., Andre, F., Wittstruck, N. ORCID: https://orcid.org/0009-0000-4378-3226, Fuerstenberger, G. and Hennies, H.C. ORCID: https://orcid.org/0000-0001-7210-2389
Human Mutation 26 (4): 351-361. 22 August 2005

Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Kulle, B., Schirmer, M., Toliat, M.R., Suk, A., Becker, C., Tzvetkov, M.V., Brockmoeller, J., Bickeboeller, H., Hasenfuss, G., 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., Uhlenberg, B., Terkeltaub, R., Nuernberg, P. and Rutsch, F.
Human Mutation 25 (1): 98. 1 January 2005

2003

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method.
Hofmann, W., Goergens, H., John, A., Horn, D., Huettner, C., Arnold, N., 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., Gangeswaran, R., Koref, I.P.S., Shanahan, N. and Hancock, J.M.
Human Mutation 22 (1): 51-58. July 2003

2001

Go!Poly: A gene-oriented polymorphism database.
Zhang, G., Zhang, S., Chen, W., Qiu, W., Wu, H., Wang, J., Luo, J., 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., 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., Schmidt-Traub, H., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, 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., Loesgen, S., Duetsch, G., Gohlke, H., Herbon, N., Klugbauer, S., Dempfle, A., Bickeboeller, H., Becker-Follmann, J., Rueschendorf, F., Saar, K., Reis, A., 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

1999

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

1998

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
Gerull, B. ORCID: https://orcid.org/0000-0002-1363-8826, Osterziel, K.J., Witt, C., 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., Li, G.H., Luft, F.C. ORCID: https://orcid.org/0000-0002-8635-1199, Lund-Johansen, P., 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., Wicklein, E.M. and Jentsch, T.J. ORCID: https://orcid.org/0000-0002-3509-2553
Human Mutation 12 (1): 27-32. 1998

1996

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

1995

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Tuffery, S., Lenk, U., Roberts, R.G., Coubes, C., 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., Stuhrmann, M., Macek, M., Kufardjieva, A., Angelicheva, D., Magdorf, K., Jordanova, A., Savov, A., Wahn, U., Lalov, V., Ivanova, T., Ellemunter, H., Vavrova, V., Ferak, V., Kayserova, H., Reis, A. and Kalaydjieva, L.
Human Mutation 6 : 219-225. 1 January 1995

1994

A 32-bp deletion (2991DEL32) in the cystic-fibrosis gene associated with CFTR messenger-RNA reduction.
Dork, T., Will, K., Grade, K., 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

1992

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