A. David

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Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

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

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

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.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

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.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Albert David, Christine Gicquel, Jun Okabe, 2010, Human molecular genetics.

Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?

C. Le Caignec, B. Isidor, B. Bader-Meunier, 2012, American Journal of Medical Genetics. Part A.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

I. de Mascarel, G. MacGrogan, R. Iggo, 2010, Breast Cancer Research.

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

C. Eng, V. Coulon, B. Duboué, 1998, Journal of medical genetics.

Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome

A. Toutain, M. Raynaud, A. David, 2014, American journal of medical genetics. Part A.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

C. Le Caignec, B. Isidor, O. Pichon, 2008, European journal of medical genetics.

Genetic heterogeneity of Usher syndrome type 1 in French families.

J. Weissenbach, D. Bonneau, J. Dufier, 1994, Genomics.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects

V. Gournay, O. Pichon, A. David, 2015, Human mutation.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

C. Le Caignec, Y. Morel, O. Pichon, 2009, American journal of medical genetics. Part A.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

C. Le Caignec, B. Isidor, O. Pichon, 2010, American journal of medical genetics. Part A.

Complete sex reversal in a WAGR syndrome patient

J. Vermeesch, C. Le Caignec, C. Delnatte, 2007, American journal of medical genetics. Part A.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

M. Le Cunff, C. Le Caignec, B. Isidor, 2008, European journal of medical genetics.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

A. Toutain, A. Verloes, S. Odent, 1995, American journal of medical genetics.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

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

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

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

E. Broussolle, L. Faivre, C. Thauvin-Robinet, 2010, American journal of human genetics.

Phenotype and genotype in females with POU3F4 mutations

F. Denoyelle, A. Toutain, M. Raynaud, 2009, Clinical Genetics.

Identification of two novel mutations in Shh long‐range regulator associated with familial pre‐axial polydactyly

C. Le Caignec, B. Isidor, S. Bézieau, 2011, Clinical genetics.

Tibial developmental field defect in valproic acid embryopathy: Report on three cases

C. Le Caignec, B. Isidor, J. Laville, 2010, American journal of medical genetics. Part A.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

A. Munnich, D. Lacombe, S. Lyonnet, 2002, American journal of medical genetics.

Russell-Silver syndrome: an explanation for discordant growth in monozygotic twins.

N. Winer, P. Sagot, A. David, 1996, Fetal diagnosis and therapy.

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

P. Janvier, J. Helms, P. Tafforeau, 2013, BMC Biology.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

G. Melino, A. Verloes, D. Hohl, 2001, The Journal of investigative dermatology.

Novel keratin 17 mutations in pachyonychia congenita type 2.

R. Tenconi, C. Coleman, W. McLean, 2001, The Journal of investigative dermatology.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

B. Isidor, A. David, M. le Merrer, 2010, American journal of medical genetics. Part A.

Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

C. Guyot, N. Winer, C. Gicquel, 2004, Prenatal diagnosis.

46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

K. McElreavey, C. Le Caignec, A. David, 2003, American journal of medical genetics. Part A.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

A. Munnich, A. Mégarbané, B. Hamel, 2010, Clinical genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

H. Cavé, A. Verloes, D. Lacombe, 2016, European journal of endocrinology.

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

A. Verloes, D. Lacombe, C. Baumann, 2003, European Journal of Pediatrics.

Role of Preoperative Basal Calcitonin Levels in the Timing of Prophylactic Thyroidectomy in Patients With Germline RET Mutations

E. Mirallié, A. David, J. Lifante, 2014, World Journal of Surgery.

Congenital Heart Defects in Patients with Deletions Upstream of SOX9

A. Visel, L. Pennacchio, S. Lyonnet, 2013, Human mutation.

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.

Persisting Spongy Myocardium

N. Winer, J. Rozé, V. Gournay, 1998, Fetal Diagnosis and Therapy.

A Case Indicating the Difficulty of Antenatal Diagnosis

N. Winer, J. Rozé, V. Gournay, 1998 .

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Constitutional telomeric association (Y;7) in a patient with a female phenotype

C. Bénéteau, C. Le Caignec, A. David, 2013, American journal of medical genetics. Part A.

Somatic mosaicism and compound heterozygosity in female hemophilia B.

M. Vidaud, I. Laurendeau, D. Vidaud, 2000, Blood.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.

S. Jacquemont, A. David, P. Buisson, 2006, Journal of pediatric surgery.

Chapter 89. Fibrous Dysplasia

L. Viernstein, F. Speleman, J. Vandesompele, 2008 .

Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndrome

O. Delattre, C. Le Caignec, B. Isidor, 2011, American journal of medical genetics. Part A.

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.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

A. Toutain, N. Winer, A. Verloes, 2014, American journal of medical genetics. Part A.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

P. Nitschké, N. Deggouj, A. David, 2017, Human mutation.

Hereditary pancreatitis in children: surgical implications with special regard to genetic background.

H. Piloquet, A. David, M. Leclair, 2009, Journal of pediatric surgery.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Cone‐rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

B. Isidor, A. David, M. le Merrer, 2009, American journal of medical genetics. Part A.

46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk.

A. David, M. Leclair, Y. Heloury, 2011, Journal of pediatric urology.

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

C. Le Caignec, B. Isidor, C. Sultan, 2009, The Journal of clinical endocrinology and metabolism.

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

H. Ostrer, A. Sinclair, G. Camerino, 2010, American journal of human genetics.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

Serpentine fibula‐polycystic kidney syndrome caused by truncating mutations in NOTCH2

C. Le Caignec, B. Isidor, V. Cormier-Daire, 2011, Human mutation.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

J. Rosenfeld, S. Spence, D. Ledbetter, 2016, JAMA psychiatry.

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

A. Toutain, A. Verloes, V. Kalscheuer, 2003, American journal of medical genetics. Part A.

Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases

C. Le Caignec, A. David, M. Vincent, 2005, American journal of medical genetics. Part A.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human Genetics.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

V. Brouste, N. Sevenet, B. Gilbert-Dussardier, 2013, Journal of Medical Genetics.

Prenatal diagnosis of a cleidocranial dysplasia‐like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation

N. Winer, C. Le Caignec, A. David, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

N. Paul, B. Isidor, S. Bahram, 2016, European Journal of Human Genetics.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

T. Nakazawa, Z. Wang, N. Matsumoto, 2016, PloS one.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Four-year follow-up of diagnostic service in USH1 patients.

B. Gilbert-Dussardier, M. Claustres, D. Lacombe, 2011, Investigative ophthalmology & visual science.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Coffin‐Lowry syndrome: a multicenter study

A. Verloes, M. Mathieu, A. David, 1988, Clinical genetics.

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

S. Jacquemont, C. Le Caignec, B. Isidor, 2008, American journal of medical genetics. Part A.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

T. Frebourg, S. Jacquemont, C. Le Caignec, 2005, Journal of Medical Genetics.

Defining the Effect of the 16 p 11 . 2 Duplication on Cognition , Behavior , andMedical Comorbidities

J. Rosenfeld, S. Spence, D. Ledbetter, 2015 .

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth

C. Férec, C. Le Caignec, B. Isidor, 2007, American journal of medical genetics. Part A.

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

G. Pinto, D. Lacombe, J. Salles, 2010, The Journal of clinical endocrinology and metabolism.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Prenatal diagnosis of tetraploidy.

P. Barrière, P. Sagot, A. David, 1993, Fetal diagnosis and therapy.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay.

N. Winer, A. David, G. Boog, 1999, European journal of obstetrics, gynecology, and reproductive biology.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

C. Thaller, S. Robertson, R. Hennekam, 2009, Nature Genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

High risk of malignancy in mosaic variegated aneuploidy syndrome.

S. Jacquemont, A. David, M. Bocéno, 2002, American journal of medical genetics.

Prenatal Diagnosis of a ‘Minor’ Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography

A. David, G. Boog, M. Quéré, 2004, Fetal Diagnosis and Therapy.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

N. Winer, C. Le Caignec, B. Isidor, 2008, European journal of medical genetics.

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

P. Janvier, J. Helms, P. Tafforeau, 2013, BMC Biology.

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

A. Reymond, J. Beckmann, F. Ramus, 2016, Biological Psychiatry.

16p11.2 Locus modulates response to satiety before the onset of obesity

A. Reymond, J. Beckmann, Bogdan Draganski, 2016, International Journal of Obesity.

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.

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

G. Mortier, A. Verloes, F. Plasschaert, 2009, American journal of medical genetics. Part A.

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.

A. Verloes, A. David, 1995, American journal of medical genetics.

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

J. Trochu, B. Bénichou, F. Kyndt, 1998, American journal of human genetics.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Amniocentesis and amnioinfusion during pregnancy. Report of four complicated cases.

N. Winer, J. Rozé, A. David, 2001, European journal of obstetrics, gynecology, and reproductive biology.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?

A. Verloes, J. Mercier, A. David, 1996, American journal of medical genetics.

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

A. Toutain, M. Mattei, Y. Hauck, 2001, Journal of medical genetics.

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

D. Bonneau, F. Escande, J. Andrieux, 2011, European journal of medical genetics.

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

C. Le Caignec, O. Pichon, A. David, 2013, European journal of medical genetics.

Inherited ring chromosome 8 without loss of subtelomeric sequences.

S. Jacquemont, C. Le Caignec, A. David, 2004, Annales de genetique.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

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.

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.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

R. Redon, A. Munnich, B. Keavney, 2013, American journal of human genetics.

Intrauterine treatment of thyroid goiters.

P. Sagot, A. David, G. Boog, 1991, Fetal diagnosis and therapy.

Non‐USH2A mutations in USH2 patients

P. Calvas, M. Claustres, S. Malcolm, 2012, Human mutation.

A severe congenital myasthenic syndrome with ” dropped head ” caused by novel MUSK mutations

B. Isidor, A. Magot, X. Ferrer, 2017 .

Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy

S. Mercier, Y. Péréon, B. Isidor, 2015, Muscle & nerve.

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

R. Hennekam, C. Stevens, F. Brancati, 2017, Molecular Syndromology.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

Maculopathy and Spinocerebellar Ataxia Type 1: A New Association?

P. Lebranchu, D. Milea, A. Magot, 2012, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

A. Toutain, J. Fryns, A. Verloes, 1998, American journal of medical genetics.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Albert David, Jon Andoni Urtizberea, Bruno Eymard, 2019, Journal of Medical Genetics.

Contribution of Tridimensional Sonography and Magnetic Resonance Imaging to Prenatal Diagnosis of Apert Syndrome at Mid-Trimester

N. Winer, A. David, G. Boog, 1999, Fetal Diagnosis and Therapy.

Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?

C. Férec, M. Audrézet, B. Mercier, 1993, Prenatal diagnosis.

Genochondromatosis type II: Report of a new patient and further delineation of the phenotype

C. Le Caignec, B. Isidor, A. Hamel, 2007, American journal of medical genetics. Part A.

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

A. Toutain, C. Le Caignec, B. Isidor, 2009, American journal of medical genetics. Part A.

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

L. Mulligan, D. Bonneau, L. Abel, 1994, Journal of medical genetics.

Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

N. Philip, D. Bonneau, F. Giuliano, 2004, American journal of medical genetics. Part A.

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

H. Ostrer, K. McElreavey, C. Le Caignec, 2003, Clinical genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.

B. Isidor, A. David, 2015, European journal of medical genetics.

Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization

G Lande, S. Demolombe, Y. Péréon, 2003, Neurology.

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

J. Mosser, J. Andrieux, C. Treguier, 2011, American journal of medical genetics. Part A.

A de novo ADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia

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