| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 658 | 2006 |
| Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2) BG Hinkes, B Mucha, CN Vlangos, R Gbadegesin, J Liu, K Hasselbacher, ... Pediatrics 119 (4), e907-e919, 2007 | 575 | 2007 |
| Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome RG Ruf, A Lichtenberger, SM Karle, JP Haas, FE Anacleto, M Schultheiss, ... Journal of the American Society of Nephrology 15 (3), 722-732, 2004 | 573 | 2004 |
| Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders K Hasselbacher, RC Wiggins, V Matejas, BG Hinkes, B Mucha, ... Kidney international 70 (6), 1008-1012, 2006 | 231 | 2006 |
| Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome RG Ruf, M Schultheiss, A Lichtenberger, SM Karle, I Zalewski, B Mucha, ... Kidney international 66 (2), 564-570, 2004 | 186 | 2004 |
| Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome B Hinkes, C Vlangos, S Heeringa, B Mucha, R Gbadegesin, J Liu, ... Journal of the American Society of Nephrology 19 (2), 365-371, 2008 | 181 | 2008 |
| Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 B Mucha, F Ozaltin, BG Hinkes, K Hasselbacher, RG Ruf, M Schultheiss, ... Pediatric research 59 (2), 325-331, 2006 | 168 | 2006 |
| Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains MTF Wolf, BE Mucha, M Attanasio, I Zalewski, SM Karle, HPH Neumann, ... Kidney international 64 (5), 1580-1587, 2003 | 102 | 2003 |
| No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations M Schultheiss, RG Ruf, BE Mucha, R Wiggins, A Fuchshuber, ... Pediatric nephrology 19, 1340-1348, 2004 | 87 | 2004 |
| Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis N He, A Zahirieh, Y Mei, B Lee, S Senthilnathan, B Wong, B Mucha, ... Clinical Journal of the American Society of Nephrology 2 (1), 31-37, 2007 | 81 | 2007 |
| Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly JM Capo-Chichi, J Tcherkezian, FF Hamdan, JC Décarie, S Dobrzeniecka, ... Journal of medical genetics 50 (11), 740-744, 2013 | 62 | 2013 |
| Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome R Gbadegesin, B Hinkes, C Vlangos, B Mucha, J Liu, J Hopcian, ... Pediatric Nephrology 22, 509-513, 2007 | 58 | 2007 |
| mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion‐insertion mutation A Fuchshuber, B Mucha, ER Baumgartner, M Vollmer, F Hildebrandt Human mutation 16 (2), 179-179, 2000 | 48 | 2000 |
| Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing MTF Wolf, BE Mucha, HC Hennies, M Attanasio, F Panther, I Zalewski, ... Human genetics 119, 649-658, 2006 | 38 | 2006 |
| Arbeitsgemeinschaft fü r Paediatrische Nephrologie Study Group: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1 … BG Hinkes, B Mucha, CN Vlangos, R Gbadegesin, J Liu, K Hasselbacher, ... Pediatrics 119, e907-e919, 2007 | 36 | 2007 |
| Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy RG Feichtinger, BE Mucha, H Hengel, Z Orfi, C Makowski, J Dort, ... Genetics in Medicine 21 (11), 2521-2531, 2019 | 33 | 2019 |
| A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay BE Mucha, S Banka, NF Ajeawung, S Molidperee, GG Chen, MK Koenig, ... Genetics in Medicine 21 (5), 1058-1064, 2019 | 30* | 2019 |
| TBC1D24-related disorders BE Mucha, RCM Hennekam, S Sisodiya, PM Campeau | 30 | 2017 |
| Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish BE Mucha, M Hashiguchi, J Zinski, EM Shore, MC Mullins Bone 109, 225-231, 2018 | 22 | 2018 |
| A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings GP Barry, BML Ny, EH Zackai, L Grunwald, BJ Forbes Ophthalmic Genetics 31 (4), 193-195, 2010 | 17 | 2010 |
Fatih OzaltinHacettepe University Faculty of MedicineAdresse e-mail validée de hacettepe.edu.tr
