C. Caignec

发表

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.

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

B. Menten, A. Meurs, S. Janssens, 2014, European Journal of Human Genetics.

Redefining the MED13L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015, European Journal of Human Genetics.

Homozygous IL 36 RN mutation and NSD 1 duplication in a patient with severe pustular psoriasis and DITRA-unrelated symptoms

S. Barbarot, B. Isidor, S. Bahram, 2014 .

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

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

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.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

USP 7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and IsMutated in aHumanNeurodevelopmental Disorder Graphical

J. Rosenfeld, I. Krantz, Ankita Patel, 2015 .

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

L. Samuelsson, B. Isidor, Toshiyuki Yamamoto, 2014, Journal of Human Genetics.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Chromosomal rearrangements arise at high frequency during early human embryogenesis

G. Verbeke, Y. Moreau, J. Vermeesch, 2008 .

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.

C5orf42 is the major gene responsible for OFD syndrome type VI

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

Chromosome instability is common in human cleavage-stage embryos

Geert Verbeke, Yves Moreau, Miikka Vikkula, 2009, Nature Medicine.

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.

Whole-genome multiple displacement amplification from single cells

K. Sermon, I. Liebaers, C. Spits, 2006, Nature Protocols.

Two independent rare events—a mutation in the RUNX2 gene and a de novo balanced translocation—in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis

N. Winer, C. Caignec, H. Philippe, 2006, Prenatal diagnosis.

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.

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.

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

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

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

A. Ballabio, T. Ogata, B. Franco, 2005, American journal of medical genetics. Part A.

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.

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.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

S. Mundlos, V. Praphanphoj, B. P. Hennig, 2010, European Journal of Human Genetics.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

A. Battaglia, D. Earl, L. Bernardini, 2014, European Journal of Human Genetics.

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

Y. Crow, É. Lainey, B. Isidor, 2013, American journal of medical genetics. Part A.

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.

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.

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p

N. Winer, C. Le Caignec, C. Delnatte, 2003, Prenatal diagnosis.

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

M. Wegner, C. Le Caignec, M. Goossens, 2000, Human molecular 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.

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.

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.

Optimization and evaluation of single‐cell whole‐genome multiple displacement amplification

L. Van Haute, K. Sermon, I. Liebaers, 2006, Human mutation.

Prenatal diagnosis of a small supernumerary, XIST‐negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus

C. Fallet-Bianco, N. Winer, C. Le Caignec, 2003, Prenatal diagnosis.

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

J. Melki, D. Kwiatkowski, S. Küry, 2009, European Journal of Human Genetics.

C5orf42 is the major gene responsible for OFD syndrome type VI

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

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

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 .

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

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

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

Delineation of 15q13.3 microdeletions

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

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

A. Chaventré, C. Le Caignec, J. Schott, 2002, American journal of human genetics.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

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.

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.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

C. Bénéteau, S. Blesson, C. Le Caignec, 2014, Clinical genetics.