B. Aral

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The proline biosynthesis in living organisms

B. Aral, P. Kamoun, B. Aral, 1997, Amino Acids.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Germline JAK2 L611S mutation in a child with thrombocytosis

F. Girodon, B. Aral, Martine Courtois, 2018, Haematologica.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

J. Rivière, J. Thevenon, L. Faivre, 2014, European Journal of Human Genetics.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

E. Solary, A. Hammann, J. Thevenon, 2019, Journal of Molecular Medicine.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular genetics.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

H. Jinnah, B. Aral, B. Chabrol, 2013, Molecular genetics and metabolism.

Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

N. Philip, Y. Berland, B. Dussol, 2004, Journal of Inherited Metabolic Disease.

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

H. Jinnah, B. Aral, I. Ceballos-Picot, 2009, Arthritis and rheumatism.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical Genetics.

Chromosome 11pi, in Congenital Lactic Acidosis

B. Aral, N. Créau, G. Ait-Ghezala, 2006 .

Selective modulation of brain antioxidant defense capacity by genetic or metabolic manipulations

P. Briand, B. Aral, P. Sinet, 1994 .

Quantification of Mn-SOD mRNAs by using a competitive reverse-transcription polymerase chain reaction.

B. Aral, P. Sinet, I. Ceballos-Picot, 1995, Redox report : communications in free radical research.

Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.

G. Liu, B. Aral, P. Kamoun, 1996, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Outcome of kidney transplantation in type Ioral‐facial‐digital syndrome

K. Dahan, C. Thauvin-Robinet, O. Devuyst, 2011, Transplant international : official journal of the European Society for Organ Transplantation.

High HFE mutation incidence in idiopathic erythrocytosis

F. Girodon, B. Aral, S. Bézieau, 2018, British journal of haematology.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

L. Faivre, C. Thauvin-Robinet, B. Franco, 2009, American journal of medical genetics. Part A.

Impact of interferon on a triple positive polycythemia vera

F. Girodon, B. Aral, I. Plo, 2019, Leukemia.

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

K. Macdermot, A. Toutain, L. Faivre, 2012, European journal of medical genetics.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients

C. Stanley, D. Rabier, P. Kamoun, 2001, Pediatric Research.

Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

F. Girodon, B. Aral, S. Bézieau, 2020, Clinical case reports.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X‐inactivation causing Lesch‐Nyhan syndrome in a female patient

P. Kamoun, G. de Saint Basile, B. Aral, 1996, Human mutation.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].

J. Saudubray, B. Aral, P. Kamoun, 1998, Bulletin de l'Academie nationale de medecine.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Cerebral dysgenesis does not exclude OFD I syndrome

L. Faivre, C. Thauvin-Robinet, B. Franco, 2011, American journal of medical genetics. Part A.

Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family.

L. Faivre, B. Aral, C. N. Semerci, 2009, The Turkish journal of pediatrics.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

A. Boland, J. Deleuze, E. Colin, 2023, Frontiers in Cell and Developmental Biology.

Low incidence of EPOR mutations in idiopathic erythrocytosis

E. Lippert, F. Girodon, A. Thiébaut, 2020, Haematologica.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

D. Lipsker, H. Dollfus, B. Aral, 2013, Dermatology.

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

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

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

G. Bouyer, L. D. Da Costa, F. Girodon, 2020, Blood.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

M. Baumgartner, S. Almashanu, C. Obie, 2000, Human molecular genetics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

P. Sonigo, M. Gonzalès, L. Faivre, 2018, Birth defects research.

Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies

O. Casasnovas, F. Garnache-Ottou, C. Ferrand, 2018, Experimental Hematology & Oncology.

F-SSCP Screening for Two Common Mutations HIS1070GLN and GLY1267LYS in French Wilson Patients, and Report of Two Novel Mutations

P. Chappuis, G. Liu, B. Aral, 1996 .

Molecular Analysis of Wilson Disease Gene in French Patients

F. Woimant, P. Chappuis, B. Aral, 2002 .

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.

F. Fouque, B. Aral, P. Kamoun, 1997, American journal of human genetics.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.

B. Aral, M. Abitbol, C. Marsac, 2002, Molecular genetics and metabolism.

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

I. Desguerre, B. Aral, A. Slama, 2003, Annals of neurology.

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl‐containing subunit of the human pyruvate dehydrogenase complex

F. Fouque, J. Saudubray, B. Aral, 1999, Prenatal diagnosis.

Mutations inPDX1,theHumanLipoyl-Containin g Component Xofthe Pyruvate DehydrogenaseComplex Geneon Chromosome 11pi, in Congenital Lactic Acidosis

B. Aral, N. Créau, G. Ait-Ghezala, 1997 .

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

E. Chouery, A. Mégarbané, L. Faivre, 2013, European journal of medical genetics.

Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of the ATM Protein Kinase

B. Aral, E. Berthel, M. Bourguignon, 2023, Radiation.

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

F. Girodon, B. Aral, S. Bézieau, 2023, Genes.

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

F. Girodon, H. Cario, A. Gimenez-Roqueplo, 2022, Haematologica.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization.

G. Liu, B. Aral, P. Kamoun, 1996, Genomics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

T. Haferlach, N. Casadevall, F. Girodon, 2023, Haematologica.

Two novel mutations (K384E and L539S) in the C‐terminal moiety of the cystathionine β‐synthase protein in two French pyridoxine‐responsive homocystinuria patients

P. Kamoun, B. Chadefaux-Vekemans, B. Aral, 1997, Human mutation.