B. Arveiler

C. Rooryck, D. Lacombe, C. Goizet, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

D. Cappellen, J. Toutain, C. Rooryck, 2012, American journal of medical genetics. Part A.

YAC mapping by FISH using Alu-PCR-generated probes.

D. Porteous, B. Arveiler, J. Gosden, 1992, Genomics.

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

S. Lepreux, D. Lacombe, B. Arveiler, 2008, Genetic counseling.

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

P. Calvas, N. Chassaing, C. Rooryck, 2011, European journal of medical genetics.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

P. Fergelot, D. Lacombe, B. Arveiler, 2021, African health sciences.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

SCAN domain-containing 2 gene (SCAND2) is a novel nuclear protein derived from the zinc finger family by exon shuffling.

D. Dupuy, B. Arveiler, V. G. Dupérat, 2002, Gene.

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.

Improved transfection using epithelial cell line-selected ligands and fusogenic peptides.

J. Merlio, L. Vaysse, B. Arveiler, 2000, Biochimica et biophysica acta.

Protease-activated receptor genes are clustered on 5q13.

B. Jacquelin, B. Arveiler, P. Boisseau, 1997, Blood.

Protease-activated receptor genes are clustered on 5q13.

B. Jacquelin, B. Arveiler, P. Boisseau, 1998 .

COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

J. Orgogozo, V. Dousset, P. Calvas, 2007, Annals of neurology.

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

D. Lacombe, F. Tison, I. Sibon, 2011, European journal of medical genetics.

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

M. Bouvard, D. Lacombe, C. Galéra, 2009, Journal of autism and developmental disorders.

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

FIRST TRIMESTER PRENATAL DIAGNOSIS OF A MALE FETUS WITH FRAGILE X

B. Arveiler, A. Schinzel, N. Tommerup, 1985, The Lancet.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

D. Lacombe, A. Bloch-Zupan, B. Arveiler, 2007, American journal of medical genetics. Part A.

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

D. Lacombe, S. Aymé, M. Breuning, 1998, American journal of medical genetics.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis.

F. Boralevi, F. Morice‐Picard, H. Rezvani, 2019, The Journal of investigative dermatology.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

C. Cruaud, D. Lacombe, L. Taine, 2002, Journal of medical genetics.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Brachydactyly type A1 with short humerus and associated skeletal features

S. Mundlos, A. Toutain, C. Rooryck, 2010, American journal of medical genetics. Part A.

Mosaic maternal uniparental isodisomy for chromosome 7q21‐qter

N. Biteau, D. Lacombe, L. Taine, 2006, Clinical genetics.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

F. Denoyelle, A. Toutain, C. Rooryck, 2016, Journal of Medical Genetics.

Infl uence of FCGR 3 AV 212 F and TNFRSF 1 BM 196 R genotypes in patients with rheumatoid arthritis treated with infl iximab therapy

C. Rooryck, T. Barnetche, B. Arveiler, 2006 .

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

A. Toutain, T. Jouary, D. Lacombe, 2008, The Journal of investigative dermatology.

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

C. Rooryck, D. Lacombe, L. Taine, 2004, European Journal of Human Genetics.

Germline mosaicism in Rubinstein-Taybi syndrome.

P. Fergelot, D. Lacombe, B. Arveiler, 2013, Gene.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

P. Fergelot, J. Toutain, C. Rooryck, 2013, Molecular genetics and metabolism.

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

C. Rooryck, D. Lacombe, M. I. Melaragno, 2017, European Journal of Human Genetics.

Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

P. Fergelot, D. Lacombe, J. Mosnier, 2010, American journal of medical genetics. Part A.

Proteolipidic vectors for gene transfer to the lung.

C. Férec, C. Guillaume, L. Vaysse, 2002, Biochemical and biophysical research communications.

Typical facial gestalt in X‐linked Kabuki syndrome

I. Touitou, D. Lacombe, S. Moutton, 2016, American journal of medical genetics. Part A.

Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.

K. Steel, W. Muir, K. Evans, 1993, Human molecular genetics.

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES. A case report.

P. Fergelot, E. Lasseaux, B. Arveiler, 2020, The journal of gene medicine.

A YAC contig encompassing the 11q14.3 breakpoint of a translocation associated with schizophrenia, and including the tyrosinase gene

L. Taine, B. Arveiler, P. Boisseau, 1999, Mammalian Genome.

A contiguous clone map over 3 Mb on the long arm of chromosome 11 across a balanced translocation associated with schizophrenia.

K. Evans, R. S. Devon, S. Christie, 1995, Genomics.

Construction of chromosome-specific libraries of yeast artificial chromosome recombinants from somatic hybrid cell lines.

B. Arveiler, 1994, Methods in molecular biology.

Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

O. Letertre, M. Cario-André, E. Lasseaux, 2020, Clinical and experimental dermatology.

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

J. Cavaille, C. Rooryck, J. Salles, 2014, European Journal of Human Genetics.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

Syndrome de Costello : aspects cliniques et risque tumoral

D. Lacombe, B. Arveiler, M. Delrue, 2002 .

CHN1 and Duane retraction syndrome: expanding the phenotype to cranial nerves development disease.

D. Lacombe, E. Lasseaux, B. Arveiler, 2021, European journal of medical genetics.

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

D. Lacombe, E. Lasseaux, B. Arveiler, 2020 .

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

C. Rooryck, D. Lacombe, E. Lasseaux, 2018, Clinical genetics.

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

J. Cazalets, P. Fergelot, M. Bouvard, 2017, Journal of Autism and Developmental Disorders.

Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia

W. Muir, D. Porteous, R. S. Devon, 2001, Molecular Psychiatry.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Management of albinism: French guidelines for diagnosis and care

S. Hadj-Rabia, B. Arveiler, A. Taieb, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

Dopachrome tautomerase variants in patients with oculocutaneous albinism

I. Jackson, P. Pennamen, D. Lacombe, 2020, Genetics in Medicine.

Increase in total blood antioxidant status and selenium levels in black patients with active vitiligo

B. Arveiler, H. Lejoly-Boisseau, Michel Robert, 2002, International journal of dermatology.

Familial aggregation of vitiligo in the French West Indies (Isle of Martinique).

B. Arveiler, P. Garsaud, A. Boisseau-Garsaud, 2001, EJD. European journal of dermatology.

Genetic basis of oculocutaneous albinism

C. Rooryck, D. Lacombe, B. Arveiler, 2009 .

The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

E. Gontier, I. Jackson, S. Javerzat, 2022, bioRxiv.

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P. Pennamen, M. Marks, D. Lacombe, 2020, Genetics in Medicine.

ALBINISM: AN UNDERDIAGNOSED CONDITION.

E. Lasseaux, B. Arveiler, V. Michaud, 2019, The Journal of investigative dermatology.

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

C. Rooryck, B. Arveiler, C. Roudaut, 2006, Pigment cell research.

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

C. Rooryck, D. Lacombe, B. Arveiler, 2008, Pigment cell & melanoma research.

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

C. Rooryck, D. Lacombe, P. Couppié, 2016, Pigment cell & melanoma research.

High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

B. Gilbert-Dussardier, J. Toutain, C. Rooryck, 2014, Pigment cell & melanoma research.

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

A. Fulton, N. Schalij-Delfos, O. Birk, 2022, Investigative ophthalmology & visual science.

Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

P. Fergelot, P. Jouk, A. Verloes, 2017, Pigment cell & melanoma research.

Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis.

Christel Garcia, B. Arveiler, B. Garbay, 2005, Biochimica et biophysica acta.

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

M. Bouvard, D. Lacombe, L. Taine, 2000, American journal of medical genetics.

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

N. Chassaing, B. Gilbert-Dussardier, C. Rooryck, 2010, Human molecular genetics.

Multilocus analysis of the fragile X syndrome

C. Schwartz, W. Brown, M. Krawczak, 1988, Human Genetics.

Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA)

M. Pembrey, A. Fischer, J. Goodship, 1987, Human Genetics.

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26–q27

B. Arveiler, G. Camerino, J. Mandel, 1987, Human Genetics.

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

J. Mandel, P. Pearson, B. Arveiler, 1988, American journal of human genetics.

Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.

J. Mandel, B. Arveiler, I. Oberlé, 1987, Genomics.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Patricia Fergelot, Paquita Nurden, William Vainchenker, 2011, Blood.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

E. Birney, P. Sergouniotis, E. Lasseaux, 2023, medRxiv.

Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.

R. Heilig, G. Camerino, J. Mandel, 1986, Cold Spring Harbor symposia on quantitative biology.

Intraspecific diversity of Oenococcus oeni strains determined by sequence analysis of target genes

E. Bon, A. Daruvar, B. Arveiler, 2006, Applied Microbiology and Biotechnology.

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2021, Human Genetics.

Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

C. Rooryck, C. Goizet, B. Arveiler, 2010, American journal of medical genetics. Part A.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

C. Rooryck, D. Lacombe, D. Simon, 2009, European journal of medical genetics.

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

A. Fischer, C. Griscelli, S. Malcolm, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Costello syndrome and neurological abnormalities

D. Lacombe, B. Arveiler, J. Chateil, 2003, American journal of medical genetics. Part A.

Clinical Report Costello Syndrome and Neurological Abnormalities

D. Lacombe, B. Arveiler, M. Delrue, 2003 .

Analysis of CBP (CREBBP) gene deletions in Rubinstein‐Taybi syndrome patients using real‐time quantitative PCR

D. Lacombe, L. Monnet, L. Taine, 2004, Human mutation.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

J. Toutain, D. Lacombe, L. Taine, 2011, European journal of medical genetics.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

J. Toutain, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

F. Boralevi, E. Lasseaux, B. Arveiler, 2018, Pigment cell & melanoma research.

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

A. Fischer, C. Griscelli, J. Mandel, 1990, American journal of human genetics.

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

S. Hadj-Rabia, E. Lasseaux, B. Arveiler, 2022, Genes.

Category : Melanin Chemistry & Pigmentation ( MCP ) Title : Lessons of a day hospital : comprehensive assessment of patients with albinism in a European setting Running title : Prospective study of albinism

F. Boralevi, E. Lasseaux, B. Arveiler, 2017 .

Improved DNA markers for efficient analysis of fragile X families.

R. Heilig, J. Mandel, M. Vidaud, 1988, American journal of medical genetics.

Albinism in a patient with mutations at both the OA1 and OCA3 loci

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

C. Rooryck, D. Lacombe, L. Taine, 2010, European journal of medical genetics.

CLOSE LINKAGE OF HYPERVARIABLE MARKER DXS255 TO DISEASE LOCUS OF WISKOTT-ALDRICH SYNDROME

A. Fischer, I. Craig, B. Arveiler, 1989, The Lancet.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

C. Hans, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Distribution of Alu and L1 repeats in human YAC recombinants

D. Porteous, B. Arveiler, 2004, Mammalian Genome.

Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2.

B. Bloch, D. Dupuy, I. Aubert, 2000, Genomics.

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

D. Lacombe, D. Simon, B. Arveiler, 2007, European Journal of Human Genetics.

The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism

Dave T. Gerrard, E. Birney, Tesca Fitzgerald, 2021, medRxiv.

A new yeast artificial chromosome vector designed for gene transfer into mammalian cells.

D. Porteous, B. Arveiler, P. Dickinson, 1998, Gene.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

A. Laquérriere, C. Rooryck, M. Martin-Négrier, 2020, Acta Neuropathologica Communications.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

H. Smeets, M. Koenig, J. Mandel, 2010, Human molecular genetics.

Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.

J. Mandel, B. Arveiler, A. Vincent, 1989, Genomics.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker

J. Mandel, A. Hanauer, B. Arveiler, 1988, Human Genetics.

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

P. Fergelot, D. Lacombe, F. Boralevi, 2013, Pediatric dermatology.

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

M. Crouzet, M. Martin-Négrier, P. Reynier, 2008, BMC Medical Genetics.

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

R. Abou Jamra, M. V. van Slegtenhorst, C. Goizet, 2020, Molecular genetics & genomic medicine.

Ancestral origins of the prion protein gene D178N mutation in the Basque Country

J. Yagüe, M. Pancorbo, R. Sánchez-Valle, 2005, Human Genetics.

Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease

D. Commenges, J. Dartigues, L. Letenneur, 2006, European journal of neurology.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

Testing and improving experimental parameters for the use of low molecular weight targets in array‐CGH experiments

Isabelle Guisle, D. Lacombe, D. Simon, 2006, Human mutation.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

P. Pennamen, E. Lasseaux, B. Arveiler, 2019, Ophthalmic genetics.

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

L. Notarangelo, G. Camerino, J. Mandel, 1989, Human Genetics.

Bardet-Biedl Syndrome and Brain Abnormalities

A. Verloes, C. Rooryck, D. Lacombe, 2007, Neuropediatrics.

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

P. Jacobs, J. Mandel, A. Hanauer, 1988, American journal of medical genetics.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2020, Molecular genetics & genomic medicine.

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.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

P. Fergelot, D. Lacombe, I. Callebaut, 2017, Clinical case reports.

8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible

P. Fergelot, D. Lacombe, E. Girodon, 2016 .

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

J. Cazalets, P. Fergelot, M. Bouvard, 2017, Journal of autism and developmental disorders.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

P. Fergelot, A. Gitler, H. Vignaud, 2017, PloS one.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations

P. Fergelot, J. Toutain, D. Lacombe, 2019, Clinical genetics.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

P. Fergelot, P. Brugières, D. Lacombe, 2014, Parkinsonism & Related Disorders.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

C. Rooryck, D. Lacombe, L. Taine, 2008, European journal of medical genetics.

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33

D. Lacombe, L. Taine, B. Arveiler, 1998, Human Genetics.

Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy.

C. Rooryck, T. Barnetche, B. Arveiler, 2008, Clinical and Experimental Rheumatology.

Genetic Analysis of the Fragile X-Mental Retardation Syndrome with Polymorphic DNA Markers

M. Mattéi, G. Camerino, B. Arveiler, 1986 .

Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy.

D. Lacombe, E. Lasseaux, B. Arveiler, 2020, European Journal of Medical Genetics.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Clinical variability and probable founder effect in oculocutaneous albinism type 7

C. Bodemer, A. Harroche, S. Hadj-Rabia, 2019, Clinical Genetics.

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism

E. Birney, P. Sergouniotis, S. Javerzat, 2023, Journal of Medical Genetics.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

P. Fergelot, G. Stevanin, B. Desnous, 2023, Movement disorders : official journal of the Movement Disorder Society.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.

A TaqI RFLP in Xq26-Xqter detected by pX45h [HGM8 no. DXS100h]

K. Wrogemann, Benoit Arveiler, I. Oberle, 1986, Nucleic Acids Res..

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

C. Cruaud, D. Lacombe, L. Taine, 2002, Journal of medical genetics.

A PstI RFLP for the human retinoic acid receptor in 17q21

B. Arveiler, M. Petkovich, J. L. Mandel, 1988, Nucleic Acids Res..

X‐linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

N. Chassaing, B. Gilbert-Dussardier, D. Lacombe, 2005, American journal of medical genetics. Part A.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Transfection using synthetic peptides: comparison of three DNA-compacting peptides and effect of centrifugation.

L. Vaysse, B. Arveiler, 2000, Biochimica et biophysica acta.