C. Badens

P. Frange, Y. Bertrand, P. Schneider, 2013, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation

A. Laquérriere, L. Villard, S. Moutton, 2017, Neuropathology and applied neurobiology.

Syndromic diarrhea/Tricho-hepato-enteric syndrome

O. Goulet, C. Badens, A. Fabre, 2013, Orphanet Journal of Rare Diseases.

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

J. Elion, P. Joly, J. Rochette, 2010, Annales de Biologie Clinique.

Thalassemia Intermedia Due to a Novel Mutation in the Second Intervening Sequence of the β-Globin Gene

A. Barakat, C. Badens, A. Ahmed, 2007, Hemoglobin.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

K. Grzeschik, E. Chouery, A. Mégarbané, 2012, Archives of dermatology.

Outcome of a school screening programme for carriers of haemoglobin disease

C. Badens, J. Mattei, N. Martini, 2002, Journal of medical screening.

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.

N. Lévy, F. Dignat-George, F. Sabatier, 2014, Atherosclerosis.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis

C. Badens, I. Agouti, N. Bonello-Palot, 2013, International journal of laboratory hematology.

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

C. Etchebest, L. D. Da Costa, L. Garçon, 2022, Frontiers in Physiology.

Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study

A. Viallat, E. Helfer, A. Charrier, 2023, Scientific Reports.

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene

B. Grandchamp, N. Soufir, F. Austerlitz, 2007, Journal of Human Genetics.

β°/β° thalassemia with a mild phenotype.

P. Maboudou, C. Rose, O. Nibourel, 2006 .

β‐Thalassemia in childhood: Current state of health in a high‐income country

J. Berbis, V. Brousse, I. Thuret, 2023, British journal of haematology.

HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia.

Y. Bertrand, P. Joly, P. Connes, 2020, Clinical hemorheology and microcirculation.

Newborn Screening for Sickle Cell Disease in Europe

J. Elion, S. Lobitz, M. de Montalembert, 2019, International journal of neonatal screening.

Genotypic Correlation Between Six Common β-Thalassemia Mutations and the XmnI Polymorphism in the Moroccan Population

F. Sayah, M. Khattab, A. Barakat, 2007, Hemoglobin.

Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis.

J. Elion, C. Badens, N. Martini, 1999, Hemoglobin.

First case of γ-thalassemia in association with a βS allele: a pitfall in the neonatal screening for sickle cell disease

N. Lévy, I. Thuret, C. Lacoste, 2008, Haematologica.

Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population.

M. Cappellini, I. Thuret, G. Michel, 2000, The hematology journal : the official journal of the European Haematology Association.

[Next-generation DNA sequencing in clinical diagnostics].

C Lacoste, A Fabre, C Pécheux, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence

N. Lévy, E. Helfer, R. Valéro, 2021, Cells.

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Y. Crow, Elizabeth E Gray, D. Stetson, 2014, Nature Immunology.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

The Rare Codon 24 (T>A) (β+) Mutation in Association with the Common Codon 39 (C> T) (β0) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

N. Lévy, P. Giordano, C. Badens, 2009, Hemoglobin.

Priapism following splenectomy in an unstable hemoglobin: Hemoglobin Olmsted β141 (H19) Leu→Arg

H. Wajcman, F. Galactéros, I. Thuret, 1996, American journal of hematology.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

C. Badens, A. Fabre, 2014, Intractable & rare diseases research.

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2

E. Helfer, C. Badens, A. Varlet, 2020, Cells.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Caroline Lacoste, Christophe Béroud, Véronique Picard, 2015, Blood.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

A Heterozygous ZMPSTE 24 Mutation Associated with Severe Metabolic Syndrome , Ectopic Fat Accumulation , and Dilated Cardiomyopathy

Monique Bernard, Nicolas Levy, N. Lévy, 2019 .

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Monique Bernard, Nicolas Levy, N. Lévy, 2016, Cells.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

C. López-Otín, R. Hennekam, A. Wagner, 2005, Human molecular genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis

L. Garçon, V. Picard, C. Guitton, 2017, Haematologica.

Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel

C. Badens, H. Guizouarn, O. Soriani, 2016, Haematologica.

Primary red cell hydration disorders: Pathogenesis and diagnosis

L. Garçon, V. Picard, C. Badens, 2018, International journal of laboratory hematology.

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

K. Wilson, B. Gaborit, C. Badens, 2019, Front. Cell Dev. Biol..

β‐Thalassemia intermedia due to two novel mutations in the promoter region of the β‐globin gene

N. Lévy, M. Nezri, C. Badens, 2008 .

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.

N. Lévy, M. Nezri, C. Badens, 2008, European journal of haematology.

Hb Bruxelles, Deletion of Pheβ42, Shows a Low Oxygen Affinity and Low Cooperativity of Ligand Binding*

M. Marden, H. Wajcman, J. Kister, 1996, The Journal of Biological Chemistry.

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

V. Barlogis, C. Badens, P. Bourgeois, 2017, Intractable & rare diseases research.

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

J. Sarles, O. Goulet, N. Peretti, 2013, Archives of Disease in Childhood.

Novel mutations in TTC37 associated with tricho‐hepato‐enteric syndrome

J. Sarles, N. André, N. Lévy, 2011, Human mutation.

Intractable diarrhea with “phenotypic anomalies” and tricho‐hepato‐enteric syndrome: Two names for the same disorder

N. André, B. Roquelaure, C. Badens, 2007, American journal of medical genetics. Part A.

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

M. Peñalva, S. R. Córdoba, C. Badens, 2009 .

Tricho‐Hepato‐Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

C. Béroud, N. Lévy, C. Badens, 2018, Human mutation.

Partial duplications of the ATRX gene cause the ATR-X syndrome

K. Devriendt, J. Vermeesch, B. Thienpont, 2007, European Journal of Human Genetics.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

O. Delattre, F. Giuliano, F. Bourdeaut, 2018, European Journal of Human Genetics.

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

F. Giuliano, B. Leheup, D. Mowat, 2014, Clinical genetics.

Compound heterozygosity Hb S/Hb Hope (β136Gly→Asp): a pitfall in the newborn screening for sickle cell disease

J. Elion, M. Maier‐Redelsperger, R. Ducrocq, 1998, Journal of medical screening.

Homozygous G6PD deficiency and propacetamol induced hemolysis.

C. Badens, M. Oliver, J. Moalic, 2001, Haematologica.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

C. Badens, P. Bourgeois, A. Fabre, 2017, Journal of pediatric gastroenterology and nutrition.

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

A. Paerregaard, C. Badens, P. Bourgeois, 2018, American journal of medical genetics. Part A.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

J. Sarles, N. André, J. Hugot, 2012, American journal of human genetics.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

O. Delattre, F. Giuliano, F. Bourdeaut, 2018, European Journal of Human Genetics.

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

L. Borrego, C. Lacoste, C. Badens, 2017, European journal of medical genetics.

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

J. Hugot, C. Badens, C. Buffat, 2019, European journal of medical genetics.

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

E. Chouery, A. Mégarbané, J. Fayyad, 2012, Journal of intellectual disability research : JIDR.

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA

N. Philip, N. Lévy, K. Maclean, 2009, Clinical genetics.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

L. Villard, M. Milh, N. Villeneuve, 2016, Revue neurologique.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

N. Lévy, F. Blanc, A. D. de Paula, 2021, European journal of medical genetics.

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.

E. Lasseaux, B. Arveiler, C. Badens, 2022, European journal of medical genetics.

Dynamics of Individual Red Blood Cells Under Shear Flow: A Way to Discriminate Deformability Alterations

A. Viallat, E. Helfer, A. Charrier, 2022, Frontiers in Physiology.

High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits.

P. Gambhire, A. Viallat, E. Helfer, 2017, Small.

Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations

C. Vigouroux, A. Viallat, Jean-François Rupprecht, 2023, bioRxiv.

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

S. Courrier, C. Badens, R. Aquaron, 2006, Journal of dermatological science.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

Hb AUBAGNE [β64(E8)Gly→Ala]: A NEW UNSTABLE β CHAIN VARIANT FOUND IN A FRENCH FAMILY

A. Francina, P. Lacan, I. Thuret, 2002 .

Hb aubagne [beta64(E8)Gly-Ala]: a new unstable beta chain variant found in a French family.

A. Francina, P. Lacan, I. Thuret, 2002, Hemoglobin.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Comparative evaluation of the depletion‐red cell exchange program with the Spectra Optia and the isovolemic hemodilution‐red cell exchange method with the COBE Spectra in sickle cell disease patients

E. Bernit, C. Badens, P. Poullin, 2016, Journal of clinical apheresis.

A novel SUPT5H variant associated with a beta‐thalassaemia trait

M. Cerino, C. Badens, N. Bonello-Palot, 2021, British journal of haematology.

Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study

D. Trégouët, P. Morange, M. Marre, 2010, Journal of Molecular Medicine.

Comparison of performances of various HbA1c methods in Haemoglobin Camperdown variant detection: consequences in diabetes management.

C. Bellanné-Chantelot, H. Portugal, A. Nicolay, 2009, Clinica chimica acta; international journal of clinical chemistry.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

[Beta-thalassemia in metropolitan France].

C. Badens, M. North, D. Lena‐Russo, 2003, Presse medicale.

Association of HbS and a new low oxygen affinity variant, Hb Canebière, [beta102(G4)Asn->Lys] in a healthy child.

L. Kiger, L. Mély, J. Kister, 2004, Haematologica.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.