CRC 1453 Seminar Series - Distinguished Speaker Professor Katalin Susztak – Perelman School of Medicine, University of Pennsylvania, USA
Topic: Going from kidney function GWAS to kidney disease mechanism
(2023) A SEC61A1 variant is associated with autosomal dominant polycystic liver disease. Liver Int, doi: 10.1111/liv.15493.
(2022) Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Ann Hum Genet, doi: 10.1111/ahg.12454.
(2022) Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier. Kidney Int, doi: 10.1016/j.kint.2021.11.030.
(2022) Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant, doi: 10.1093/ndt/gfab218.
(2022) The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol, doi: 10.1007/s00467-021-04974-4.
(2022) Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. J Am Soc Nephrol, doi: 10.1681/ASN.2021050596.
(2022) Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy. J Clin Invest, doi: 10.1172/JCI147253.
(2022) Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease. Pediatr Nephrol, doi: 10.1007/s00467-022-05441-4.
(2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet, doi: 10.1016/j.ajhg.2022.03.015.
(2022) Correction to: The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol, doi: 10.1007/s00467-021-05207-4. Erratum for: Pediatr Nephrol. 2022 Mar;37(3):473-487. PMID: 34426882.
(2022) Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases. Orphanet J Rare Dis, doi: 10.1186/s13023-022-02265-1.
(2022) Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study. Nephrol Dial Transplant, doi: 10.1093/ndt/gfac006.
(2022) Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int, doi: 10.1016/j.kint.2022.01.028.
(2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Hum Mol Genet, doi: 10.1093/hmg/ddac027.
(2022) Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest, doi: 10.1172/JCI161852. Erratum for: J Clin Invest. 2020 Jan 2;130(1):335-344. PMID: 35642643; PMCID: PMC9151686.
(2022) Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing. Kidney Int Rep, doi: 10.1016/j.ekir.2022.01.1061.
(2022) Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int Rep, doi: 10.1016/j.ekir.2022.05.035.
(2021) Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial Clin Genet, doi: 10.1111/cge.13861.
(2021) Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021 Am J Kidney Dis, doi: 10.1053/j.ajkd.2020.10.021.
(2021) The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation Genet Med, doi: 10.1038/s41436-021-01127-8.
(2021) Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases J Biol Chem, doi: 10.1016/j.jbc.2021.100590.
(2021) Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants Kidney Int, doi: 10.1016/j.kint.2021.04.019.
(2021) Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia Brain, doi: 10.1093/brain/awab041.
(2021) mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol, doi: 10.1681/ASN.2021030333.
(2021) Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Genet Med, doi: 10.1038/s41436-021-01283-x. Erratum for: Genet Med. 2021 Jul;23(7):1219-1224.
(2020) Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function J Clin Invest, doi: 10.1172/JCI129937.
(2020) Eculizumab in chemotherapy-induced thrombotic microangiopathy Clin Nephrol Case Stud, doi: 10.5414/CNCS109836.
(2020) Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes Genet Med, doi: 10.1038/s41436-020-0816-3.
(2020) Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia Clin Endocrinol (Oxf), doi: 10.1111/cen.14267.
(2020) Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment Kidney Int, doi: 10.1016/j.kint.2020.05.027.
(2020) [Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies] [Article in German] Klin Padiatr, doi: 10.1055/a-1179-0728.
(2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat, doi: 10.1002/humu.24127.
(2019) Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness Mol Vis, 25:851-858. eCollection 2019.
(2019) TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome J Am Soc Nephrol, doi: 10.1681/ASN.2019040414.
(2019) Molecular based newborn screening in Germany: Follow-up for cystinosis Mol Genet Metab Rep, doi: 10.1016/j.ymgmr.2019.100514.
(2019) Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation BMC Nephrol, doi: 10.1186/s12882-019-1523-7.
(2019) Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome Kidney Int, doi: 10.1016/j.kint.2019.06.016.
(2019) Management of bone disease in cystinosis: Statement from an international conference J Inherit Metab Dis, doi: 10.1002/jimd.12134.
(2019) Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome Front Genet, doi: 10.3389/fgene.2019.00465.
(2019) Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome Eur J Endocrinol, doi: 10.1530/EJE-19-0119.
(2019) International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people Nat Rev Nephrol, doi: 10.1038/s41581-019-0155-2.
(2019) Diagnostic Utility of Exome Sequencing for Kidney Disease N Engl J Med, doi: 10.1056/NEJMc1903250.
(2019) ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea Treatment Klin Padiatr, doi: 10.1055/a-0889-8307.
(2019) Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Kidney Int, doi: 10.1016/j.kint.2019.01.038.
(2019) Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting Urolithiasis, doi: 10.1007/s00240-019-01116-2.
(2019) HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry Pediatr Nephrol, doi: 10.1007/s00467-018-4188-8.
(2019) Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest Nephron, doi: 10.1159/000493532.
(2019) Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome J Med Genet, doi: 10.1136/jmedgenet-2018-105470.
(2018) A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS) Pril (Makedon Akad Nauk Umet Odd Med Nauki), doi: 10.2478/prilozi-2018-0052.
(2018) Polycystic kidney disease Nat Rev Dis Primers, doi: 10.1038/s41572-018-0047-y.
(2018) Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide J Natl Cancer Inst, doi: 10.1093/jnci/djy171.
(2018) Novel causative variants in patients with achromatopsia Ophthalmic Genet, doi: 10.1080/13816810.2018.1522653.
(2018) The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development J Biol Chem, doi: 10.1074/jbc.RA117.000847.
(2018) Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series Clin Kidney J, doi: 10.1093/ckj/sfy006.
(2018) Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F Ophthalmic Genet, doi: 10.1080/13816810.2018.
(2018) Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants Eur J Hum Genet, doi: 10.1038/s41431-018-0212-5.
(2018) A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes Cell Rep, doi: 10.1016/j.celrep.2018.04.059.
(2018) Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease J Pediatr, doi: 10.1016/j.jpeds.2018.03.052.
(2018) Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 Hum Mutat, doi: 10.1002/humu.23539.
(2018) Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1 Pediatr Nephrol, doi: 10.1007/s00467-018-3961-z.
(2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses Front Pediatr, doi: 10.3389/fped.2017.00221.
(2018) Treating C3 glomerulopathy with eculizumab BMC Nephrol, doi: 10.1186/s12882-017-0802-4.
(2018) Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X Am J Med Genet A, doi: 10.1002/ajmg.a.38570.
(2018) Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies Am J Med Genet A, doi: 10.1002/ajmg.a.38562.
(2018) Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews JAMA Pediatr, doi: 10.1001/jamapediatrics.2017.3938.
(2017) Advances in renal genetic diagnosis Cell Tissue Res 369, 93-104.
(2017) Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism J Clin Invest 127, 2612-2625.
(2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease Nat Genet 49, 1025-1034.
(2017) The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon J Am Soc Nephrol.
(2017) Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease Front Pediatr 5, 18.
(2017) Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies. Clin Kidney J, doi: 10.1093/ckj/sfx053.
(2017) Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies Clin J Am Soc Nephrol, doi: 10.2215/CJN.01280217.
(2017) Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease PLoS One, doi: 10.1371/journal.pone.0185779.
(2017) Recent advances in the molecular diagnosis of polycystic kidney disease Expert Rev Mol Diagn, doi: 10.1080/14737159.2017.1386099.
(2016) Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin BMC Med Genet 17, 73.
(2016) MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum Eur J Med Genet 59, 386-91.
(2016) [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female] Internist (Berl) 57, 1022-1028.
(2016) Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome Nephrol Dial Transplant 31, 1114-21.
(2016) Clinical utility gene card for: Meckel syndrome - update 2016 Eur J Hum Genet 24.
(2016) C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies Ophthalmic Genet 37, 290-3.
(2016) Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH Am J Kidney Dis 67, 532-3.
(2016) ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS J Am Soc Nephrol 27, 63-8.
(2016) LRP5 variants may contribute to ADPKD Eur J Hum Genet 24, 237-42.
(2015) Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation Br J Ophtalmol, pii: bjophthalmol-2015-306844
(2015) Transcriptional regulator PRDM12 is essential for human pain perception Nat Genet 47, 803-808
(2015) Rationale, design and objectives of ARegPKD, a European ARPKD registry study BMC Nephrol, doi: 10.1186/s12882-015-0002-z
(2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations Eur J Hum Genet, doi: 10.1038/ejhg.2015.56
(2015) Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1 Clin J Am Soc Nephrol, 10, 825-831
(2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening Eur J Hum Genet, doi: 10.1038/ejhg.2015.57
(2015) An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease PLoS One 10, e0116680
(2015) A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations Ophthalmic Genet 36, 79-84
(2015) ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Pediatr Nephrol 30, 15-30
(2015) Tectonic gene mutations in patients with Joubert syndrome Eur J Hum Genet 5, 616-6120
(2015) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol 83, 297-300
(2014) A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula Br J Ophthalmol, doi: 10.1136/bjophthalmol-2014-305836
(2014) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol
(2014) Tectonic gene mutations in patients with Joubert syndrome Eur J Hum Genet, doi: 10.1038/ejhg.2014.160
(2014) Transcriptional complexity in autosomal recessive polycystic kidney disease Clin J Am Soc Nephrol 9, 1729-36
(2014) Mutation of POC1B in a severe syndromic retinal ciliopathy Hum Mutat 35, 1153-62
(2014) Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus") Pediatr Ophthalmol Strabismus 51, e51-4
(2014) Eculizumab as first-line therapy for atypical hemolytic uremic syndrome Pediatrics 133, e1759-63
(2014) Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis Journal 111, 5343-8.
(2014) Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy Journal 18, 203-5.
(2014) Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation Journal 18, 134-9.
(2014) Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness Hum Mutat 35, 565-70
(2014) Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD J Am Soc Nephrol 25, 1653-61
(2014) Mutations in the human UBR1 gene and the associated phenotypic spectrum Journal 35, 521-31.
(2014) Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies Pediatr Nephrol 29, 1451-6
(2013) Genetic characteristics of the human hepatic stellate cell line LX-2 PLoS One 8, e75692.
(2013) First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations J Neuroophthalmol 33, 349-53.
(2013) Ruptured Cerebral Aneurysm and Acute Bilateral Carotid Artery Dissection in a Patient with Polycystic Kidney Disease and Polycystic Liver Disease Cerebrovasc Dis 35, 590-591.
(2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 Nat Genet.
(2013) A de novo GLI3 mutation in a patient with acrocallosal syndrome Am J Med Genet A 161, 1394-400.
(2013) Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome Transpl Int 26, 640-50.
(2013) Autosomal-recessive polycystic kidney disease gets more complex Gastroenterology 144, 1155-6.
(2013) Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS) Virchows Arch 462, 455-64.
(2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Hum Mol Genet 22, 2177-85.
(2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease Hum Mutat 34, 714-24.
(2013) Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia Nephrol Dial Transplant 28, 227-32.
(2013) Extended mutation spectrum of Usher syndrome in Finland Acta Ophthalmol 91, 325-34.
(2013) Diagnostic applications of next generation sequencing - working towards quality standards J Lab Med (in press).
(2012) COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9 Nephrol Dial Transplant 27, 4236-40.
(2012) Epigenetics and imprinting Arch Pediatr 19, 1145-7.
(2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ Hum Mol Genet 21, 5528-38.
(2012) 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 Orphanet J Rare Dis 7, 59.
(2012) Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing J Invest Dermatol 132, 2473-6.
(2012) A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy BMC Nephrol 13, 27.
(2012) Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease Pediatr Nephrol 27, 1197-200.
(2012) Novel mutation in the glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity Blood Coagul Fibrinolysis 23, 335-7.
(2012) Educational paper: ciliopathies Eur J Pediatr 171, 1285-300.
(2012) Diagnostic applications of next generation sequencing - working towards quality standards J Lab Med.
(2012) Ciliopathies Eur J Pediatr.
(2012) Clinical and genetic spectrum of cilia-related disorders (ciliopathies) Pädiatr Praxis 78, 493-506.
(2011) Mutations in multiple PKD genes may explain early and severe polycystic kidney disease J Am Soc Nephrol 22, 2047-56.
(2011) Cyclin B1 expression and p53 status in squamous cell carcinomas of the head and neck Anticancer Res 31, 3151-7.
(2011) Preschoolers' comprehension of pronouns and reflexives: the impact of the task J Child Lang, 1-27.
(2011) Human tumor-induced and naturally occurring Treg cells differentially affect NK cells activated by either IL-2 or target cells Eur J Immunol 41, 3564-73.
(2011) Educational paper : Ciliopathies Eur J Pediatr.
(2011) Inhibition of glycogen synthase kinase 3beta induces dermal fibrosis by activation of the canonical Wnt pathway Ann Rheum Dis 70, 2191-8.
(2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies Kidney Int 80, 1239-45.
(2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome Am J Hum Genet 89, 94-110.
(2011) Local inhibition of angiogenesis results in an atrophic non-union in a rat osteotomy model Eur Cell Mater 22, 1-11.
(2011) Dendritic cell generation and CD4+ CD25high FOXP3+ regulatory t cells in human head and neck carcinoma during radio-chemotherapy Eur J Med Res 16, 57-62.
(2011) Clinical utility gene card for: Meckel syndrome Eur J Hum Genet 19.
(2011) Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Am J Hum Genet 88, 362-71.
(2011) Synthesis of novel tricalcium phosphate-bioactive glass composite and functionalization with rhBMP-2 J Mater Sci Mater Med 22, 763-71.
(2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Nat Genet 43, 189-96.
(2011) Genitopatellar syndrome, sensorineural hearing loss, and cleft palate Oral Maxillofac Surg 15, 103-6.
(2010) Congenital fibrocystic liver diseases Best Pract Res Clin Gastroenterol 24, 573-84.
(2010) Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD) J Pediatr Hematol Oncol 32, e314-6.
(2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Nat Genet 42, 840-50.
(2010) Genetic variation of DKK3 may modify renal disease severity in ADPKD J Am Soc Nephrol 21, 1510-20.
(2010) The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease Kidney Blood Press Res 33, 129-38.
(2010) Von Nierenzysten und Zystennieren Päd Hautnah 2, 92-98.
(2010) Zystennieren-eine Übersicht MedGenet.
(2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies Nat Genet 41, 739-45.
(2009) Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD) Nephrol Dial Transplant 24, 1819-27.
(2008) Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation N Engl J Med 359, 318-9.
(2008) Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR Nephrol Dial Transplant 23, 3026-9.
(2008) Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat Eur J Med Genet 51, 325-31.
(2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome Hum Mutat 29, 45-52.
(2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome Am J Hum Genet 81, 713-25.
(2007) Early manifestations of polycystic kidney disease Lancet 369, 2157.
(2007) Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 Am J Hum Genet 81, 158-64.
(2007) Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome Hum Mutat 28, 638-9.
(2006) Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia Am J Hum Genet 79, 1105-9.
(2006) Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease J Hum Genet 51, 788-93.
(2006) Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease Mol Diagn Ther 10, 163-74.
(2006) Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2 Gene Expr Patterns 6, 978-84.
(2006) Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation Pediatr Transplant 10, 362-6.
(2005) Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy Nat Genet 37, 1312-4.
(2005) Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) J Med Genet 42, e63.
(2005) A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) Hepatology 41, 1113-21.
(2005) Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 25, 225-31.
(2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Kidney Int 67, 829-48.
(2005) Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature Am J Med Genet A 134A, 226-8.
(2005) Diagnostik der Charcot-Marie-Tooth-Neuropathien Medgen 17, 444-452.
(2004) A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) Neurology 63, 1327-8.
(2004) PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 23, 487-95.
(2004) PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 23, 453-63.
(2003) X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease Acta Orthop Scand 74, 737-41.
(2003) Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy Am J Hum Genet 73, 1106-19.
(2003) Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) Am J Med Genet A 121A, 151-5.
(2003) Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations J Am Soc Nephrol 14, 2004-14.
(2003) Autosomal recessive polycystic kidney disease (ARPKD) J Nephrol 16, 453-8.
(2003) Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation Arch Neurol 60, 605-9.
(2003) Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 Hum Mol Genet 12, 349-56.
(2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) J Am Soc Nephrol 14, 76-89.
(2002) Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene J Am Soc Nephrol 13, 2246-58.
(2001) Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain J Neurol Sci 192, 49-51.
(2001) A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa Mol Genet Metab 73, 179-87.
(2001) A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany Brain Res Mol Brain Res 88, 183-5.
(2000) Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy Muscle Nerve 23, 818-23.