Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital CataractHANSEN, Lars; MIKKELSEN, Annemette; NÜRNBERG, Peter et al.Investigative ophthalmology & visual science. 2009, Vol 50, Num 7, pp 3291-3303, issn 0146-0404, 13 p.Article

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafnessMEGARBANE, André; SLIM, Rima; NÜRNBERG, Gudrun et al.European journal of human genetics. 2009, Vol 17, Num 8, pp 1076-1079, issn 1018-4813, 4 p.Article

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyKURTH, Ingo; PAMMINGER, Torsten; NURNBERG, Gudrun et al.Nature genetics. 2009, Vol 41, Num 11, pp 1179-1181, issn 1061-4036, 3 p.Article

Mutations in PYCR1 cause cutis laxa with progeroid featuresREVERSADE, Bruno; ESCANDE-BEILLARD, Nathalie; SHAHWAN, Monzer et al.Nature genetics. 2009, Vol 41, Num 9, pp 1016-1021, issn 1061-4036, 6 p.Article

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral NeuropathyHORVATH, Rita; HOLINSKI-FEDER, Elke; NURNBERG, Peter et al.Movement disorders. 2012, Vol 27, Num 6, pp 789-793, issn 0885-3185, 5 p.Article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4SAYER, John A; OTTO, Edgar A; UTSCH, Boris et al.Nature genetics. 2006, Vol 38, Num 6, pp 674-681, issn 1061-4036, 8 p.Article

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26BAYOUMI, Riad; SAAR, Kathrin; LEE, Young-Ae et al.Journal of medical genetics. 2001, Vol 38, Num 6, pp 369-373, issn 0022-2593Article

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3KUHL, Angelika; MELBERG, Atle; MEINL, Edgar et al.European journal of human genetics. 2008, Vol 16, Num 3, pp 367-373, issn 1018-4813, 7 p.Article

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining juvenile Cataract with Microcornea and Renal GlucosuriaKLOECKENER-GRUISSEM, Barbara; VANDEKERCKHOVE, Kristof; NÜRNBERG, Gudrun et al.American journal of human genetics. 2008, Vol 82, Num 3, pp 772-779, issn 0002-9297, 8 p.Article

Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12HALEVY, Ayelet; BASEL-VANAGAITE, Lina; NÜRNBERG, Peter et al.Pediatric neurology. 2012, Vol 46, Num 6, pp 363-368, issn 0887-8994, 6 p.Article

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemiaAL-KATEB, Hussam; BÄHRING, Sylvia; HOFFMANN, Katrin et al.Circulation research. 2002, Vol 90, Num 9, pp 951-958, issn 0009-7330Article

Splitting schizophrenia : Periodic catatonia-susceptibility locus on chromosome 15q15STÖBER, Gerald; SAAR, Kathrin; BECKMANN, Helmut et al.American journal of human genetics. 2000, Vol 67, Num 5, pp 1201-1207, issn 0002-9297Article

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal FunctionHUSSAIN, Muhammad Sajid; BAIG, Shahid Mahmood; FROMMOLT, Peter et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 871-878, issn 0002-9297, 8 p.Article

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIPROPERS, Fabienne; DERIVERY, Emmanuel; VARON, Raymonda et al.Human molecular genetics (Print). 2011, Vol 20, Num 13, pp 2585-2590, issn 0964-6906, 6 p.Article

A large duplication involving the IHH locus mimics acrocallosal syndromeYUKSEL-APAK, Memnune; BÖGERSHAUSEN, Nina; GRZESCHIK, Karl-Heinz et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 639-644, issn 1018-4813, 6 p.Article

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophyUGUR ISERI, Sibel; WYATT, Alexander W; NÜRNBERG, Gudrun et al.Human genetics. 2010, Vol 128, Num 1, pp 51-60, issn 0340-6717, 10 p.Article

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paragangliomaNIEMANN, Stephan; BECKER-FOLLMANN, Johannes; NÜRNBERG, Gudrun et al.American journal of medical genetics. 2001, Vol 98, Num 1, pp 32-36, issn 0148-7299Article

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin DiseaseOJI, Vinzenz; ECKL, Katja-Martina; SCHÄFER-KORTING, Monika et al.American journal of human genetics. 2010, Vol 87, Num 2, pp 274-281, issn 0002-9297, 8 p.Article

A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan FamilyBOULOUIZ, Redouane; YUN LI; BARAKAT, Abdelhamid et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 23, pp 3086-3089, issn 1552-4825, 4 p.Article

Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13LEE, Young-Ae; RÜSCHENDORF, Franz; WINDEMUTH, Christine et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 1020-1024, issn 0002-9297Article

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyWETERMAN, Marian A. J; SORRENTINO, Vincenzo; ZELCER, Noam et al.Human molecular genetics (Print). 2012, Vol 21, Num 2, pp 358-370, issn 0964-6906, 13 p.Article

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing LossYUN LI; POHL, Esther; VELTMAN, Joris A et al.American journal of human genetics. 2010, Vol 86, Num 3, pp 479-484, issn 0002-9297, 6 p.Article

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11ZUR STADT, Udo; ROHR, Jan; MAUL-PAVICIC, Andrea et al.American journal of human genetics. 2009, Vol 85, Num 4, pp 482-492, issn 0002-9297, 11 p.Article

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid DeficiencyMETHERELL, Louise A; NAVILLE, Danielle; LIN LIN et al.The Journal of clinical endocrinology and metabolism. 2009, Vol 94, Num 10, pp 3865-3871, issn 0021-972X, 7 p.Article

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm DefectsLOGES, Niki Tomas; OLBRICH, Heike; KNOWLES, Michael R et al.American journal of human genetics. 2009, Vol 85, Num 6, pp 883-889, issn 0002-9297, 7 p.Article