G. Nürnberg

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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

A. Audhya, G. Nürnberg, P. Nürnberg, 2013, Proceedings of the National Academy of Sciences.

Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study.

F. Kronenberg, A. Ziegler, S. Coassin, 2016, Atherosclerosis.

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

S. Lindberg, H. Omran, W. Sale, 2013, Nature Genetics.

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

M. Poot, H. Hoehn, D. Lessel, 2010, Human Genetics.

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

W. Schwindt, G. Nürnberg, P. Nürnberg, 2010, Human mutation.

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

J. Al-Aama, B. Lorenz, T. Neuhann, 2013, PloS one.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

I. Ebermann, R. Heller, G. Nürnberg, 2013, European Journal of Human Genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Peter Nürnberg, Ivan Dikic, Melanie Bahlo, 2014, Nature Genetics.

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

B. Keavney, M. Santibanez-Koref, P. Chinnery, 2012, Movement disorders : official journal of the Movement Disorder Society.

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome‐like phenotype

I. Demuth, K. Sperling, D. Schindler, 2010, Human mutation.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

A. Mégarbané, I. Ebermann, H. Bolz, 2009, European Journal of Human Genetics.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

D. Horn, M. Holtgrewe, K. Sperling, 2022, Human Genetics.

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Colin A. Johnson, H. Bolz, B. Schermer, 2013, Human molecular genetics.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

H. Hennies, G. Nürnberg, D. Metze, 2010, American journal of human genetics.

A TUBB6 mutation is associated with autosomal dominant non‐progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

R. Lang-Roth, R. Heller, G. Nürnberg, 2017, Human molecular genetics.

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

W. Berger, G. Nürnberg, P. Nürnberg, 2008, American journal of human genetics.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

H. Zentgraf, I. Ebermann, H. Bolz, 2011, The Journal of clinical investigation.

Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13–22 locus

T. Wienker, K. Lesch, F. Rüschendorf, 2002, Molecular Psychiatry.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

G. Nürnberg, P. Nürnberg, A. Shuper, 2012, Pediatric neurology.

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

R. Rossi, G. Nürnberg, P. Nürnberg, 2012, Molecular genetics and metabolism.

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

H. Zentgraf, R. Reinhardt, H. Omran, 2009, American journal of human genetics.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

E. Becirovic, H. Bolz, C. Neuhaus, 2017, Scientific Reports.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

D. Horn, S. Mundlos, M. Spielmann, 2016, Genome research.

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

F. Baas, H. J. Schelhaas, B. V. van Engelen, 2012, Human molecular genetics.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

G. Nürnberg, P. Nürnberg, C. Kubisch, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

M. Westerfield, I. Ebermann, H. Bolz, 2015, Human molecular genetics.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

A. Wyatt, G. Holder, E. Blair, 2010, Human Genetics.

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

G. Nürnberg, P. Nürnberg, K. Huehne, 2011, Journal of neurogenetics.

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.

A. Hoischen, B. Wirth, A. Hart, 2017, American journal of human genetics.

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

S. Fauser, G. Nürnberg, P. Nürnberg, 2013, PloS one.

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

K. Lohmann, G. Nürnberg, P. Nürnberg, 2013, JAMA neurology.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

J. Hurst, A. Wilkie, G. Nürnberg, 2012, BMC Medical Genetics.

First HPSE2 missense mutation in urofacial syndrome

G. Nürnberg, P. Nürnberg, C. Hübner, 2012, Clinical genetics.

Recessive HYDIN mutations cause primary ciliary dyskinesia without situs abnomalities

R. Reinhardt, H. Omran, G. Nürnberg, 2012 .

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

R. Lang-Roth, G. Nürnberg, P. Nürnberg, 2017, Audiology and Neurotology.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

M. Baumgartner, T. Suormala, G. Nürnberg, 2009, Nature Genetics.

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

D. Berney, M. Racine, G. Nürnberg, 2009, The Journal of clinical endocrinology and metabolism.

Homozygous truncating PTPRF mutation causes athelia

D. Wieczorek, G. Nürnberg, P. Nürnberg, 2014, Human Genetics.

A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3

H. Hennies, H. Kayserili, G. Nürnberg, 2007, Clinical genetics.

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

G. Nürnberg, P. Nürnberg, Filippo Beleggia, 2013, Human Genetics.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

J. Oldenburg, G. Nürnberg, P. Nürnberg, 2012, Human Genetics.

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

U. Wolfrum, H. Bolz, K. Nagel-Wolfrum, 2016, Human mutation.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

E. Salido, G. Nürnberg, M. Wolf, 2012, European Journal of Human Genetics.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

G. Mirza, J. Ragoussis, M. Farrall, 2009, Human mutation.

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

S. Ehl, H. Hennies, G. Nürnberg, 2009, American journal of human genetics.

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome

G. Nürnberg, C. Becker, P. Nürnberg, 2005, Pediatric Nephrology.

Glucocorticoid Deficiency Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial

D. Berney, M. Racine, G. Nürnberg, 2009 .

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

M. Hurles, R. Reinhardt, H. Omran, 2012, American journal of human genetics.

Mutations in different components of FGF signaling in LADD syndrome

C. Cremers, H. Brunner, H. Kayserili, 2006, Nature Genetics.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss

G. Nürnberg, C. Becker, P. Nürnberg, 2020, Clinical genetics.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Jacqueline K. White, N. Karp, R. Ramirez-Solis, 2012, American journal of human genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

H. Bolz, C. Neuhaus, T. Eisenberger, 2017, Genetics in Medicine.

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

U. Stephani, G. Nürnberg, C. Becker, 2008, International journal of molecular medicine.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

Young-Ae Lee, G. Nürnberg, R. Bayoumi, 2001, Journal of medical genetics.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

M. Teitell, R. Goodyear, G. Richardson, 2012, American journal of human genetics.

Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II

T. Wienker, G. Nürnberg, A. Reis, 2011, European Archives of Psychiatry and Clinical Neuroscience.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

U1 snRNA‐mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

H. Omran, W. Berger, G. Nürnberg, 2011, Human mutation.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

I. Ebermann, H. Scholl, H. Bolz, 2007, Human mutation.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Peter Nürnberg, Thomas Gudermann, Dominik Seelow, 2006, Nature Genetics.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Monte Westerfield, Peter Nürnberg, Bernhard Schermer, 2010, The Journal of clinical investigation.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

K. Steel, M. Ptok, U. Zimmermann, 2015, Orphanet Journal of Rare Diseases.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Carsten Bergmann, Peter Nürnberg, Bernhard Schermer, 2008, American journal of human genetics.

Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

H. Bolz, A. Koschak, S. Baig, 2011, Nature Neuroscience.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

F. Baas, E. Aronica, C. Angelini, 2013, Brain : a journal of neurology.

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

T. Rosenberg, H. Eiberg, G. Nürnberg, 2009, Investigative ophthalmology & visual science.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

H. Bolz, G. Nürnberg, P. Nürnberg, 2011, Molecular vision.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American Journal of Human Genetics.

A large duplication involving the IHH locus mimics acrocallosal syndrome

K. Grzeschik, H. Kayserili, G. Nürnberg, 2012, European Journal of Human Genetics.

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

R. Hegele, G. Nürnberg, P. Nürnberg, 2010, American journal of human genetics.

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

S. Levy, N. Katsanis, T. Hurd, 2013, Kidney international.

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

D. Horn, S. Mundlos, B. Müller-Myhsok, 2012, European Journal of Human Genetics.

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.

T. Wienker, K. Lesch, F. Rüschendorf, 2000, American journal of human genetics.

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima–Media Thickness

F. Kronenberg, A. Ziegler, S. Coassin, 2016, Stroke.

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3

E. Meinl, H. Kehrer-Sawatzki, G. Nürnberg, 2008, European Journal of Human Genetics.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

G. Nürnberg, P. Nürnberg, C. Kubisch, 2012, European journal of medical genetics.

Dysfunction of the MDM2/p53 axis is linked to premature aging.

C. Prives, J. Högel, David R. Tong, 2017, The Journal of clinical investigation.

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

D. Lessel, S. Nampoothiri, G. Nürnberg, 2013, Molecular genetics & genomic medicine.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

A. Munnich, C. Skinner, C. Schwartz, 2012, Molecular cell.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

D. Seelow, H. Schild, A. Ekici, 2006, American journal of human genetics.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

K. Tory, A. Nayır, C. Antignac, 2009, Journal of Medical Genetics.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Bethan E. Hoskins, A. Bakkaloğlu, F. Hildebrandt, 2006, Kidney international.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A. Noegel, S. Baig, G. Nürnberg, 2016, Human Genetics.

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

G. Nürnberg, C. Becker, P. Nürnberg, 2010, Molecular Syndromology.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

G. Nürnberg, P. Nürnberg, J. Altmüller, 2013, The Journal of investigative dermatology.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Ingeborg Krägeloh-Mann, Francesco Muntoni, Peter Nürnberg, 2008, Nature Genetics.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

D. Wieczorek, M. Passos-Bueno, G. Nürnberg, 2014, Genetics in Medicine.

A mutation in the signal sequence of LRP5 in a family with an osteoporosis‐pseudoglioma syndrome (OPPG)‐like phenotype indicates a novel disease mechanism for trinucleotide repeats

A. Ramírez, Minrong Ai, H. Kayserili, 2009, Human mutation.

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Peter Nürnberg, Arif B Ekici, André Reis, 2015, eLife.

TALPID 3 controls centrosome and cell polarity and the human ortholog KIAA 0586 is 1 mutated in Joubert syndrome ( JBTS 23 ) 2 3

Peter Nürnberg, Arif B Ekici, André Reis, 2015 .

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

D. Seelow, F. Hildebrandt, M. Attanasio, 2007, Nature Genetics.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

John Hwa, Véronique Baudouin, Murim Choi, 2013, Nature Genetics.

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

G. Nürnberg, C. Becker, P. Nürnberg, 2008, American journal of medical genetics. Part A.

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

T. Wienker, A. Pfeufer, B. Wirth, 1999, American journal of human genetics.

Mutation in the ARH Gene and a Chromosome 13q Locus Influence Cholesterol Levels in a New Form of Digenic-Recessive Familial Hypercholesterolemia

K. Strauch, A. Busjahn, F. Luft, 2002, Circulation research.

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.

T. Wienker, F. Rüschendorf, G. Nürnberg, 2001, American journal of medical genetics.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

H. Eiberg, G. Nürnberg, P. Nürnberg, 2008, American journal of medical genetics. Part A.

Homozygous truncating PTPRF mutation causes athelia

D. Wieczorek, G. Nürnberg, P. Nürnberg, 2014, Human Genetics.

Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the MPL gene

Manfred Stuhrmann, Jörg Schmidtke, Peter Nürnberg, 2009, British journal of haematology.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

S. Haas, P. Huppke, S. Kaler, 2012, American journal of human genetics.

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

T. Wienker, E. Seemanová, R. Wegner, 1997, American journal of human genetics.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

P. Scambler, R. Hennekam, P. Hammond, 2009, American journal of human genetics.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Carsten Bergmann, Peter Nürnberg, Ahmad Mansour, 2012, Orphanet Journal of Rare Diseases.

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEUROHEPATOPATHY SYNDROME

I. Ebermann, H. Bolz, G. Nürnberg, 2008, Neurology.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

B. Lorenz, T. Rosenberg, S. Feil, 2008, Molecular vision.

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

D. Seelow, D. Horn, S. Mundlos, 2011, American journal of human genetics.

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

H. Hennies, A. Noegel, P. Frommolt, 2012, American journal of human genetics.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

M. Votruba, P. Yu-Wai-Man, G. Arno, 2019, Annals of neurology.

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

W. Berger, G. Nürnberg, P. Nürnberg, 2014, PloS one.

Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

R. Schüle, V. Álvarez, Michael A. Gonzalez, 2013, Human mutation.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Genetic heterogeneity in Pakistani microcephaly families revisited

G. Nürnberg, P. Nürnberg, J. Altmüller, 2017, Clinical genetics.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

J. Vincent, P. Gönczy, C. Enzinger, 2014, Human molecular genetics.

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21‐q23

G. Nürnberg, C. Becker, J. Schmidtke, 2008, Clinical genetics.

Mutations in CDK5RAP2 cause Seckel syndrome

H. Kayserili, G. Nürnberg, P. Nürnberg, 2015, Molecular genetics & genomic medicine.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.

T. Wienker, F. Rüschendorf, G. Nürnberg, 2000, American journal of human genetics.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

E. Becirovic, H. Bolz, C. Neuhaus, 2017, Scientific Reports.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

J. Oldenburg, G. Nürnberg, P. Nürnberg, 2011, Human Genetics.

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family

J. Erdmann, G. Nürnberg, J. Altmüller, 2022, Journal of Human Genetics.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

G. Nürnberg, V. Mihaylova, V. Guergueltcheva, 2009, Neurology.

Title: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Running head: SSBP1 missense variants cause optic atrophy

Wai-man, M. Votruba, M. Michaelides, 2019 .

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.