C. Kannengiesser

C. Boileau, V. Cottin, R. Borie, 2021, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

New founder germline mutations of CDKN2A in melanoma‐prone families and multiple primary melanoma development in a patient receiving levodopa treatment

L. Thomas, G. Lenoir, A. Chompret, 2007, Genes, chromosomes & cancer.

Is telomeropathy the explanation for combined pulmonary fibrosis and emphysema syndrome?: report of a family with TERT mutation.

D. Valeyre, C. Kannengiesser, Y. Uzunhan, 2014, American journal of respiratory and critical care medicine.

Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults

A. Cazes, R. Borie, B. Crestani, 2020, Presse medicale.

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

Z. Daniil, M. Maniati, P. Revy, 2022, Respiration.

Evidence for different expression profiles for c-Met, EGFR, PTEN and the mTOR pathway in low and high grade endometrial carcinomas in a cohort of consecutive women. Occurrence of PIK3CA and K-Ras mutations and microsatellite instability.

C. Genestie, E. Raymond, C. Kannengiesser, 2014, Histology and histopathology.

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

D. Caillaud, P. Revy, M. O'Donohue, 2020, Human molecular genetics.

HNF 1 α Mutations Are Present in Half of Clinically Defi ned MODY Patients in South-Brazilian Individuals

B. Grandchamp, G. Velho, J. Gross, 2008 .

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders

C. Beaumont, T. Lefèbvre, L. Gouya, 2015, Clinical chemistry and laboratory medicine.

A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway

C. Oudin, J. Navarro-González, J. Donate-Correa, 2019, Journal of clinical medicine.

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations

P. Brillet, J. Bernaudin, D. Valeyre, 2017, European Respiratory Journal.

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.

J. Clarke, C. Kannengiesser, A. Linglart, 2015, The Journal of clinical endocrinology and metabolism.

Resequencing Study Con ﬁ rms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis

Ivana V. Yang, Brian E. Vestal, Camille M. Moore, 2019 .

Hunting for the genetic basis of Susac syndrome

P. Dieudé, C. Boileau, B. Keren, 2021, European journal of neurology.

Telomere syndrome and the lung

R. Borie, B. Crestani, C. Kannengiesser, 2019 .

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

C. Beaumont, C. Oudin, B. Grandchamp, 2009, Blood.

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.

C. Beaumont, B. Grandchamp, M. Westerman, 2008, Blood.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

C. Ged, C. Oudin, C. Férec, 2014, Human molecular genetics.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

C. Beaumont, P. Brissot, D. Valla, 2016, Gastroenterology.

Heterozygous Mutations in BMP 6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans Running title : BMP 6 , gene for moderate hemochromatosis

C. Beaumont, P. Brissot, D. Valla, 2016 .

Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation

R. Porcher, V. Cottin, G. Prévot, 2020, European Respiratory Journal.

Pulmonary fibrosis: Genetic analysis of telomere‐related genes, telomere length measurement‐or both?

R. Borie, E. Renzoni, C. Kannengiesser, 2018, Respirology.

Genetics of human telomere biology disorders

P. Revy, A. Bertuch, C. Kannengiesser, 2022, Nature Reviews Genetics.

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

P. Revy, R. Borie, C. Kannengiesser, 2014, European Respiratory Journal.

microcytic anemia and iron deficiency Two nonsense mutations in the TMPRSS6 gene in a patient with

C. Beaumont, B. Grandchamp, M. Westerman, 2013 .

Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes.

C. Beaumont, M. Thursz, M. Busbridge, 2010, World journal of gastroenterology.

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

S. Amselem, A. Clément, R. Borie, 2019, ERJ Open Research.

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

F. Rieux-Laucat, P. Reix, J. Dubus, 2016, Chest.

Not all DMT1 mutations lead to iron overload.

C. Beaumont, B. Grandchamp, C. Kannengiesser, 2009, Blood cells, molecules & diseases.

Genetic testing in interstitial lung disease: An international survey

A. Prasse, V. Poletti, A. Fabre, 2022, Respirology.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

J. Stinson, J. Jaremko, A. Goris, 2017, Pediatric Rheumatology.

Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease

M. Humbert, A. Fabre, C. Danel, 2009, European Respiratory Journal.

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease *

S. Teimourian, C. Kannengiesser, N. Parvaneh, 2008, British journal of haematology.

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

G. Leverger, T. Leblanc, B. Isidor, 2019, British journal of haematology.

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

B. Gérard, B. Grandchamp, J. El Benna, 2008, Human mutation.

Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes

S. Hadjadj, M. Marre, R. Roussel, 2022, Cardiovascular Diabetology.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Yehuda, É. Lainey, I. Callebaut, 2021 .

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Shondra M. Pruett-Miller, J. Rosenfeld, M. Boerries, 2021, Blood.

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

C. Oudin, B. Grandchamp, G. Velho, 2011, Pediatric diabetes.

Combined pulmonary fibrosis and emphysema in alpha-1-antitrypsin deficiency.

V. Cottin, J. Traclet, C. Kannengiesser, 2021, Respiratory medicine and research.

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

X. Causse, P. Brissot, S. Cunat, 2013, British journal of haematology.

CDKN2A as a uveal and cutaneous melanoma susceptibility gene

G. Lenoir, M. Avril, K. Laud, 2003, Genes, chromosomes & cancer.

Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

P. Dieudé, R. Borie, M. Griese, 2022, Diagnostics.

TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region

E. Weiderpass, A. Shahesmaeili, Md. Ismail Hosen, 2022, International journal of molecular sciences.

First clinical description of a pedigree with complete NAF1 deletion

P. Revy, É. Lainey, J. Tinat, 2022, Leukemia & lymphoma.

A Risk Score to Detect Subclinical Rheumatoid Arthritis–Associated Interstitial Lung Disease

P. Dieudé, X. Mariette, F. Berenbaum, 2022, Arthritis & rheumatology.

Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

O. Delattre, N. Sevenet, C. Jeanpierre, 2012, European Journal of Human Genetics.

Aspergillus-induced pneumonia in adult without obvious immunodeficiency: test the burst!

O. Langeron, R. Monteiro, J. El Benna, 2018, European Respiratory Journal.

Mutations of the RTEL1 Helicase in a Hoyeraal‐Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

J. Soulier, P. Revy, T. Leblanc, 2016, Human mutation.

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.

P. Revy, V. Cottin, E. Bergot, 2015, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Quality assessment of seven types of fresh‐frozen plasma leucoreduced by specific plasma filtration

C. Kannengiesser, A. Montembault, C. Naegelen, 2003, Vox sanguinis.

First Description of NOD2 Variant Associated with Defective Neutrophil Responses in a Woman with Granulomatous Mastitis Related to Corynebacteria

B. Berçot, C. Oudin, B. Grandchamp, 2009, Journal of Clinical Microbiology.

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload

C. Beaumont, P. Brissot, B. Grandchamp, 2009, Haematologica.

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

M. Fleming, P. Chakraborty, R. Klaassen, 2013, Blood.

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Erin K. Kennedy, M. Fleming, Ashley Lau, 2014, Blood.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

P. Revy, A. Warren, C. Bole-Feysot, 2019, Blood.

Somatic genetic rescue in Mendelian haematopoietic diseases

A. Fischer, P. Revy, C. Kannengiesser, 2019, Nature Reviews Genetics.

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

A. Fischer, J. Soulier, P. Revy, 2016, Blood advances.

Genetic landscape of adult Langerhans cell histiocytosis with lung involvement

E. Clappier, D. Gossot, S. Chevret, 2019, European Respiratory Journal.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

M. Nalls, C. Blauwendraat, D. Schwartz, 2018, The New England journal of medicine.

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

P. Revy, P. Dieudé, A. Cazes, 2019, European Respiratory Journal.

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

H. Heimpel, C. Beaumont, S. Ducamp, 2011, Human mutation.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.

B. Grandchamp, G. Velho, J. Gross, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

P. Froguel, C. Béroud, A. Bonnefond, 2017, European Respiratory Journal.

RHOXF2 gene, a new candidate gene for spermatogenesis failure

B. Grandchamp, F. Vialard, J. Selva, 2014, Basic and Clinical Andrology.

Resequencing Study Confirms Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

Ivana V. Yang, Brian E. Vestal, Camille M. Moore, 2019, American journal of respiratory and critical care medicine.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

P. Revy, S. Gazal, P. Nitschké, 2015, European Respiratory Journal.

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

B. Paw, T. Baker, S. Ducamp, 2017, Proceedings of the National Academy of Sciences.

Management of suspected monogenic lung fibrosis in a specialised centre

L. Gouya, R. Borie, B. Crestani, 2017, European Respiratory Review.

Familial pulmonary fibrosis.

R. Borie, B. Crestani, C. Kannengiesser, 2015, Revue des maladies respiratoires.

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

M. Fleming, D. Swinkels, C. Niemeyer, 2014, American journal of hematology.

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

C. Beaumont, Érica Morán, B. Grandchamp, 2011, Haematologica.

Iron refractory iron deficiency anemia

M. Muckenthaler, C. Beaumont, A. Iolascon, 2013, Haematologica.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

P. Revy, B. Grandchamp, V. Cottin, 2016, European Respiratory Journal.

nonsense mutation in the A novel type of congenital hypochromic anemia associated with a

H. Heimpel, C. Beaumont, C. Oudin, 2012 .

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

H. Heimpel, C. Beaumont, C. Oudin, 2011, Blood.

immunodeficiency, periodic fevers, and developmental delay (SIFD) A novel syndrome of congenital sideroblastic anemia, B-cell

M. Fleming, P. Chakraborty, R. Klaassen, 2013 .

Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies

Mayka Sanchez, Achille Iolascon, Clara Camaschella, 2014, Human mutation.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

L. Gouya, H. Puy, I. Callebaut, 2019, Molecular genetics and metabolism.

Molecular diagnosis of X-linked chronic granulomatous disease in Iran

Z. Rezvani, S. Teimourian, M. Moin, 2008, International journal of hematology.

Lethal ALAS2 mutation in males X‐linked sideroblastic anaemia

C. Oudin, L. Gouya, I. Callebaut, 2017, British journal of haematology.

First heterozygous NOP10 mutation in familial pulmonary fibrosis

P. Revy, C. Oudin, C. Boileau, 2020, European Respiratory Journal.

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

C. Oudin, L. Gouya, B. Grandchamp, 2013 .

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.

Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation

V. Cottin, G. Prévot, C. Tromeur, 2018, European Respiratory Journal.

The genetics of interstitial lung diseases

P. Dieudé, R. Borie, B. Crestani, 2019, European Respiratory Review.

Lung Fibroblasts from Idiopathic Pulmonary Fibrosis Patients Harbor Short and Unstable Telomeres Leading to Chromosomal Instability

M. Fenech, A. Bennaceur-Griscelli, R. Borie, 2022, Biomedicines.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

Interstitial lung diseases associated with mutations of poly(A)‐specific ribonuclease: A multicentre retrospective study

P. Dieudé, É. Lainey, V. Cottin, 2022, Respirology.

Germline SFTPA 1 mutation in familial idiopathic interstitial pneumonia and lung cancer

S. Amselem, L. Gouya, A. Clément, 2016 .

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.

P. Terrier, G. Lenoir, T. Tursz, 2004, Gastroenterology.

BRAF and NRAS mutational status in clear cell sarcoma

B. Bui, P. Terrier, A. Cesne, 2005 .

Methotrexate and rheumatoid arthritis associated interstitial lung disease

R. Porcher, D. Schwartz, E. Matteson, 2020, European Respiratory Journal.

Clinical impact of TERT somatic mutation in telomerase-related gene mutation carriers after lung transplantation.

V. Cottin, R. Borie, H. Mal, 2022, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

S. Ducamp, L. Gouya, H. Puy, 2021, Haematologica.

Donor Club Cell Secretory Protein G38A Polymorphism Is Associated With a Decreased Risk of Primary Graft Dysfunction in the French Cohort in Lung Transplantation

Y. Castier, P. Mordant, R. Borie, 2018, Transplantation.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer

S. Leroy, J. Dalphin, A. Cazes, 2020, European Respiratory Journal.

Clinical outcomes after lung transplantation for fibrosis in telomerase related genes mutation carriers

V. Cottin, R. Borie, H. Mal, 2019, Transplantation.

Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report

R. Borie, T. Grenet, C. Kannengiesser, 2019, Journal of Human and Clinical Genetics.

AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

P. Revy, S. Gazal, P. Dieudé, 2017 .

European Respiratory Society statement on familial pulmonary fibrosis

A. Prasse, V. Poletti, A. Fabre, 2022, European Respiratory Journal.

Pneumocystosis revealing immunodeficiency secondary to TERC mutation

A. Cazes, R. Borie, D. Boutboul, 2017, European Respiratory Journal.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

V. de Lédinghen, C. Ged, C. Oudin, 2018, Haematologica.

NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis

P. Dieudé, A. Cazes, R. Borie, 2023, ERJ Open Research.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

A new family with hereditary hyperferritinemia cataract syndrome.

C. Kannengiesser, T. Celkan, N. Ozdemir, 2013, Genetic counseling.

The MUC5B promoter risk allele for idiopathic pulmonary fibrosis predisposes to asbestosis

P. Dieudé, J. Burgers, R. Borie, 2020, European Respiratory Journal.

Genetic testing in idiopathic interstitial pneumonia

C. Delacourt, P. Reix, S. Amselem, 2015 .

Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

C. Delacourt, P. Reix, S. Amselem, 2016 .

Somatic genetic rescue in Mendelian haematopoietic diseases

A. Fischer, P. Revy, C. Kannengiesser, 2019, Nature Reviews Genetics.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

[Telomeres and lung].

R. Borie, B. Crestani, C. Kannengiesser, 2022, Revue des maladies respiratoires.

Signal‐induced ubiquitination of p57Kip2 is independent of the C‐terminal consensus Cdk phosphorylation site

M. Leibovitch, S. Leibovitch, C. Kannengiesser, 2003, FEBS letters.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

F. Rieux-Laucat, P. Reix, J. Dubus, 2016, Chest.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

P. Revy, I. Callebaut, V. Géli, 2022, Blood.

The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.

R. Borie, B. Crestani, M. Debray, 2017, American journal of respiratory and critical care medicine.

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

B. Paw, T. Baker, S. Ducamp, 2017, Proceedings of the National Academy of Sciences.

CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the “long and winding road” into adulthood

A. Giatromanolaki, M. Debray, C. Kannengiesser, 2023, ERJ Open Research.

High risk of lung cancer in surfactant-related gene variant carriers

G. Defossez, A. Guillaumot, M. Debray, 2024, The European respiratory journal.

Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors

V. de Lédinghen, D. Roulot, R. Borie, 2023, Hepatology.

Not all DMT1 mutations lead to iron overload.

C. Beaumont, B. Grandchamp, C. Kannengiesser, 2009, Blood cells, molecules & diseases.

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.

P. Revy, D. Moshous, J. de Villartay, 2024, Human molecular genetics.

Iron refractory iron deficiency anemia

M. Muckenthaler, C. Beaumont, A. Iolascon, 2013, Haematologica.

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

C. Oudin, B. Grandchamp, G. Velho, 2011, Pediatric diabetes.

Impact of Air Pollution and MUC5B Genotype on Survival in Idiopathic Pulmonary Fibrosis.

M. Boubaya, R. Borie, C. Kannengiesser, 2023, Annals of the American Thoracic Society.

Multidisciplinary team dedicated to suspected heritable pulmonary fibrosis

P. Dieudé, S. Amselem, L. Gouya, 2018, Rare ILD/DPLD.