G. Plessis

发表

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.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

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.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

I. Simonic, H. Firth, J. Vermeesch, 2013, European journal of medical genetics.

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.

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

A. Represa, D. Keays, J. Flint, 2009, Nature Genetics.

Intra-species chromosome-length polymorphism in Geotrichum candidum revealed by pulsed field gel electrophoresis.

N. Desmasures, M. Guéguen, J. Panoff, 2002, International journal of food microbiology.

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

A. Represa, D. Keays, J. Flint, 2011 .

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

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

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

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

A. Laquérriere, M. Gonzalès, J. Chelly, 2016, European journal of medical genetics.

Inversion Region for Hypertension and Brachydactyly on Chromosome 12p Features Multiple Splicing and Noncoding RNA

D. Chitayat, F. Luft, Y. Neuenfeld, 2008, Hypertension.

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

De novo 15q13.3 microdeletion with cryptogenic west syndrome

J. Andrieux, M. Gérard, G. Plessis, 2013, American journal of medical genetics. Part A.

Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis

N. Chuzhanova, C. Férec, C. Le Gall, 2004, Human mutation.

Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia

J. Soulier, H. Dombret, C. Preudhomme, 2013, American journal of hematology.

Congenital mirror movements

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Z. Tümer, L. Vallée, S. Tinschert, 2012, European journal of medical genetics.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Andreas Busjahn, Jens Jordan, Herbert Schulz, 2015, Nature Genetics.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

J. Andrieux, M. Gérard, G. Plessis, 2015, American journal of medical genetics. Part A.

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

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

CD4 (cid:1) , CD56 (cid:1) DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: a study of 21 cases by the Groupe Franc¸ais de Cytoge´ne´tique He´matologique

M. Callanan, V. Eclache, N. Dastugue, 2002 .

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.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

A high frequency of Y chromosome deletions in males with nonidiopathic infertility.

T. Bourgeron, L. Quintana-Murci, M. Fellous, 1999, The Journal of clinical endocrinology and metabolism.

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

S. Wołczyński, G. Plessis, R. Leśniewicz, 2012, Advances in medical sciences.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

F. Speleman, A. Hagemeijer, F. Sigaux, 2007, Leukemia.

No evidence of genetic heterogeneity in dominant optic atrophy.

J. Weissenbach, A. Munnich, E. Souied, 1995, Journal of medical genetics.

What can we learn from old microdeletion syndromes using array‐CGH screening?

L. Faivre, P. Jonveaux, C. Thauvin-Robinet, 2012, Clinical genetics.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

J. Toutain, C. Yardin, F. Vialard, 2015, European Journal of Human Genetics.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Mutations in Human Beta-2 b Tubulin Result in Asymmetrical Polymicrogyria

A. Represa, D. Keays, C. Fallet-Bianco, 2011 .

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

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

Clinical Comparison of Overlapping Deletions of 19p13.3

S. Schwartz, P. Papenhausen, S. Sacharow, 2013, American journal of medical genetics. Part A.

CD4(+), CD56(+) DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: a study of 21 cases by the Groupe Français de Cytogénétique Hématologique.

M. Callanan, H. Avet-Loiseau, V. Eclache, 2002, Blood.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

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

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

Groupe Français de Cytogénétique Hématologique the chromosomal changes affecting 6 major targets: a study of 21 cases by DC2 acute leukemia is characterized by recurrent clonal + , CD56 + CD4

M. Callanan, V. Eclache, N. Dastugue, 2012 .

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

K. Devriendt, H. Firth, S. Julia, 2013, European journal of medical genetics.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

S. Pinson, F. Coulet, F. Soubrier, 2004, Human mutation.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).

J. Couturier, C. Turleau, G. Plessis, 1985, Journal of medical genetics.

X‐linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

M. Cabanis, P. Niaudet, D. Cau, 1989, Clinical genetics.

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

F. Chapon, P. Jonveaux, J. Derlon, 2004, Annales de genetique.

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.

Severe manifestations in carrier females in X linked retinitis pigmentosa.

A. Munnich, E. Souied, B. Segues, 1997, Journal of medical genetics.

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.

Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay‐Marks syndrome

G. Plessis, M. Merrer, M. L. Treust, 1997, Clinical genetics.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

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

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

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

J. Andrieux, M. Blyth, J. Cuisset, 2015, European 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.

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

J. Bonaventure, C. Philippe, G. Plessis, 1992, Human Genetics.

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

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

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

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

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

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