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L. Heidet · SciRah

Researcher profile · Semantic Scholar

L. Heidet

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L. Heidet — researcher profile on SciRah

h-index: 46
Works: 130
Citations: 6,987

Most-cited papers

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
O. Gross, C. Licht, H. Anders, B. Hoppe +23 more
2012Kidney International343 citations Open access
Semantic Scholar
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
C. Kashtan, Jie Ding, G. Garosi, L. Heidet +7 more
2018Kidney International299 citations Open access
Semantic Scholar
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
L. Heidet, S. Décramer, Audrey Pawtowski, V. Moriniére +7 more
2010American Society of Nephrology. Clinical Journal269 citations Open access
Semantic Scholar
Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice
S. Roselli, L. Heidet, M. Sich, A. Henger +3 more
2004Molecular and Cellular Biology253 citations Open access
Semantic Scholar
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
Christelle Arrondel, N. Vodovar, B. Knebelmann, J. Grünfeld +3 more
2002Journal of the American Society of Nephrology221 citations
Semantic Scholar
Alport syndrome
L. Heidet, Bertrand Knebelmann, Marie Claire Gubler
2020Definitions172 citations Open access
Semantic Scholar
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
V. Moriniére, K. Dahan, P. Hilbert, M. Lison +12 more
2014Journal of the American Society of Nephrology160 citations Open access
Semantic Scholar
Evidence of digenic inheritance in Alport syndrome
M. Mencarelli, L. Heidet, H. Storey, M. van Geel +16 more
2015Journal of Medical Genetics158 citations Open access
Semantic Scholar
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
N. Knoers, C. Antignac, C. Bergmann, K. Dahan +7 more
2021Nephrology, Dialysis and Transplantation153 citations Open access
Semantic Scholar
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.
Johanna Temme, F. Peters, Katharina Lange, Y. Pirson +7 more
2012Kidney International146 citations Open access
Semantic Scholar
Update of PAX2 Mutations in Renal Coloboma Syndrome and Establishment of a Locus-Specific Database
Matthew Bower, R. Salomon, J. Allanson, C. Antignac +44 more
2012Human Mutation143 citations Open access
Semantic Scholar
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative
C. Kashtan, Jie Ding, M. Gregory, O. Gross +4 more
2012Pediatric nephrology (Berlin, West)137 citations Open access
Semantic Scholar
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Esther López-Rivera, Yangfan P. Liu, M. Verbitsky, Blair R. Anderson +78 more
2017New England Journal of Medicine122 citations Open access
Semantic Scholar
Hepatocyte nuclear factor 1β controls nephron tubular development
Filippo Massa, S. Garbay, R. Bouvier, Yoshinobu Sugitani +5 more
2013Development121 citations Open access
Semantic Scholar
Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2
K. El Karoui, Amandine Viau, O. Dellis, A. Bagattin +13 more
2016Nature Communications116 citations Open access
Semantic Scholar
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.
G. Bollée, K. Dahan, M. Flamant, V. Moriniére +7 more
2011American Society of Nephrology. Clinical Journal115 citations Open access
Semantic Scholar
Cystinuria: clinical practice recommendation.
A. Servais, K. Thomas, L. Strologo, J. Sayer +16 more
2020Kidney International108 citations Open access
Semantic Scholar
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
L. Heidet, V. Moriniére, Charline Henry, L. De Tomasi +21 more
2017Journal of the American Society of Nephrology105 citations Open access
Semantic Scholar
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio‐oto‐renal syndrome calls into question the pathogenic role of SIX5 mutations
P. Krug, V. Moriniére, S. Marlin, V. Koubi +6 more
2011Human Mutation105 citations
Semantic Scholar
The renal lesions of Alport syndrome.
L. Heidet, M. Gubler
2009Journal of the American Society of Nephrology102 citations
Semantic Scholar
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Leire Madariaga, V. Moriniére, C. Jeanpierre, R. Bouvier +14 more
2013American Society of Nephrology. Clinical Journal98 citations Open access
Semantic Scholar
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Camille Humbert, F. Silbermann, B. Morar, M. Parisot +17 more
2014American Journal of Human Genetics96 citations Open access
Semantic Scholar
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
L. De Tomasi, P. David, Camille Humbert, F. Silbermann +27 more
2017American Journal of Human Genetics92 citations Open access
Semantic Scholar
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
M. Lenglet, F. Robriquet, K. Schwarz, C. Camps +47 more
2018Blood80 citations Open access
Semantic Scholar
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
M. Audrézet, Christine Corbiere, S. Lebbah, V. Moriniére +24 more
2016Journal of the American Society of Nephrology78 citations Open access
Semantic Scholar
Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN
Roser Torra, B. Lipska-Ziętkiewicz, F. Acke, C. Antignac +16 more
2024Nephrology, Dialysis and Transplantation69 citations Open access
Semantic Scholar
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis
M. Girard, A. Bizet, A. Lachaux, E. Gonzales +18 more
2016Human Mutation68 citations Open access
Semantic Scholar
Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.
O. Gribouval, O. Boyer, A. Hummel, J. Dantal +12 more
2018Kidney International65 citations Open access
Semantic Scholar
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
O. Gross, C. Kashtan, M. Rheault, F. Flinter +34 more
2016Nephrology, Dialysis and Transplantation64 citations Open access
Semantic Scholar
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
L. Heidet, E. Bongers, M. Sich, Shao-Yu Zhang +8 more
2003American Journal of Pathology62 citations Open access
Semantic Scholar
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
C. Jeanpierre, G. Macé, M. Parisot, V. Moriniére +16 more
2011Journal of Medical Genetics61 citations
Semantic Scholar
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
G. Bassanese, Tanja Wlodkowski, A. Servais, L. Heidet +30 more
2021Orphanet Journal of Rare Diseases58 citations Open access
Semantic Scholar
Treatment and outcome of congenital nephrotic syndrome
S. Bérody, L. Heidet, O. Gribouval, J. Harambat +26 more
2019Nephrology, Dialysis and Transplantation58 citations
Semantic Scholar
Human mutations affect the epigenetic/bookmarking function of HNF1B
J. Lerner, A. Bagattin, Francisco Verdeguer, M. P. Makinistoglu +4 more
2016Nucleic Acids Research58 citations Open access
Semantic Scholar
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
Shao-Yu Zhang, A. Marlier, O. Gribouval, T. Gilbert +3 more
2004Kidney International50 citations Open access
Semantic Scholar
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
J. Ratelade, Christelle Arrondel, G. Hamard, S. Garbay +8 more
2010Human Molecular Genetics48 citations Open access
Semantic Scholar
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Friederike Petzold, K. Billot, Xiao-Yi Chen, Charline Henry +18 more
2023Kidney International45 citations Open access
Semantic Scholar
Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations
N. Vinit, A. Gueneuc, B. Bessières, S. Dreux +8 more
2019Fetal Diagnosis and Therapy40 citations
Semantic Scholar
Stem cell therapy for Alport syndrome: the hope beyond the hype.
O. Gross, D. Borza, H. Anders, C. Licht +18 more
2008Nephrology, Dialysis and Transplantation40 citations Open access
Semantic Scholar
A Human-Mouse Chimera of the α3α4α5(IV) Collagen Protomer Rescues the Renal Phenotype in Col4a3−/− Alport Mice
L. Heidet, D. Borza, M. Jouin, M. Sich +6 more
200340 citations Open access
Semantic Scholar
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
H. Mothes, L. Heidet, Christelle Arrondel, K. K. Richter +6 more
2002Nephrology, Dialysis and Transplantation40 citations Open access
Semantic Scholar
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
Christelle Arrondel, G. Deschênes, Y. Le Meur, Amandine Viau +6 more
2004Kidney International36 citations Open access
Semantic Scholar
Murine membranous nephropathy: Immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome
Jun-jun Zhang, M. Malekpour, Wentian Luo, Lin-Na Ge +8 more
2012Journal of Immunology35 citations Open access
Semantic Scholar
TCF2/HNF‐1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia
D. Body-Bechou, P. Loget, D. D'hervé, B. Le Fiblec +11 more
2014Prenatal Diagnosis33 citations
Semantic Scholar
A wave of deep intronic mutations in X-linked Alport Syndrome.
M. Boisson, Christelle Arrondel, N. Cagnard, V. Moriniére +17 more
2023Kidney International32 citations Open access
Semantic Scholar
The use of fetal MRI for renal and urogenital tract anomalies
G. Chalouhi, A. Millischer, H. Mahallati, N. Siauve +8 more
2019Prenatal Diagnosis32 citations
Semantic Scholar
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases
H. Duval, L. Michel‐Calemard, M. Gonzalès, P. Loget +14 more
2016Prenatal Diagnosis32 citations Open access
Semantic Scholar
Proteolysis breaks tolerance toward intact α345(IV) collagen, eliciting novel anti-GBM autoantibodies specific for α345NC1 hexamers
F. Olaru, Xu-Ping Wang, Wentian Luo, Lin-Na Ge +7 more
2013Journal of Immunology32 citations Open access
Semantic Scholar
Sequential fetal serum β2‐microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction
E. Spaggiari, G. Faure, S. Dreux, I. Czerkiewicz +8 more
2017Ultrasound in Obstetrics and Gynecology30 citations Open access
Semantic Scholar
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease
H. Saei, V. Moriniére, L. Heidet, O. Gribouval +9 more
2023iScience28 citations Open access
Semantic Scholar

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