J. Andrieux

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

R. Zannolli, H. Hjalgrim, M. Bak, 2012, Clinical 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.

Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia.

P. Morel, F. Bauters, J. Andrieux, 2002, Cancer genetics and cytogenetics.

α-synuclein locus duplication as a cause of familial Parkinson's disease

Philippe Amouyel, Luc Defebvre, L. Defebvre, 2004, The Lancet.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

C. Rooryck, G. Lefort, P. Jonveaux, 2013, European Journal of Human 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.

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies.

J. Andrieux, F. Sheth, Joris Andrieux, 2009, Indian journal of experimental biology.

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis.

X. Leleu, J. Andrieux, P. Vandenberghe, 2007, Cancer genetics and cytogenetics.

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.

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

D. Pinto, S. Scherer, D. Collier, 2015, Human mutation.

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

R. Pfundt, L. Vallée, M. Holder-Espinasse, 2011, Journal of Medical Genetics.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

Array‐CGH detection of a de novo 0.7‐Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms

S. Auvin, M. Holder-Espinasse, J. Andrieux, 2009, Epilepsia.

Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3)

M. Copin, J. Andrieux, B. Delobel, 2005, Genes, chromosomes & cancer.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

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.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.

L. Vallée, J. Andrieux, B. Delobel, 2011, European 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.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma.

M. Copin, B. Quesnel, C. Preudhomme, 2002, Annales de genetique.

A report from the LALA-94 and LALA-SA groups on hypodiploidy with 30 to 39 chromosomes and near-triploidy: 2 possible expressions of a sole entity conferring poor prognosis in adult acute lymphoblastic leukemia (ALL).

A. Delannoy, A. Bernheim, C. Bastard, 2004, Blood.

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

N. Rioux-Leclercq, J. Andrieux, S. Odent, 2013, European journal of medical genetics.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

M. Daly, A. Reymond, J. Beckmann, 2015, American journal of human genetics.

Chromosomal abnormalities in transformed Ph‐negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations

O. Bernard, E. Lippert, V. Eclache, 2010, Genes, chromosomes & cancer.

Plasma cell growth fraction using Ki‐67 antigen expression identifies a subgroup of multiple myeloma patients displaying short survival within the ISS stage I

I. Yakoub-Agha, A. Duhamel, F. Bauters, 2007, European journal of haematology.

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.

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion

G. Tachdjian, J. Andrieux, C. Vincent‐Delorme, 2017, American journal of medical genetics. Part A.

The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia

F. Berger, R. Berger, O. Bernard, 2008, Leukemia.

Partial deletion of DEPDC5 in a child with focal epilepsy

C. Zucca, R. Giorda, J. Andrieux, 2016, Epilepsia open.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

G. Annéren, J. Andrieux, B. Delobel, 2013, European journal of medical genetics.

De novo 15q13.3 microdeletion with cryptogenic west syndrome

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

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

N. Philip, A. Renieri, F. Mari, 2010, American journal of medical genetics. Part A.

Karyotypic abnormalities in myelofibrosis following polycythemia vera.

F. Bauters, J. Andrieux, P. Agapé, 2003, Cancer genetics and cytogenetics.

Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome

J. Andrieux, J. Laï, I. Plantier, 2008, British journal of haematology.

Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy.

V. Eclache, J. Andrieux, J. Laï, 2008, Cancer genetics and cytogenetics.

Expression of HMGA2 in PB leukocytes and purifiedCD34+ cells from controls and patients with Myelofibrosis andmyeloid metaplasia

M. Le Bousse-Kerdilès, E. Lippert, V. Praloran, 2006, Leukemia & lymphoma.

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

F. Bauters, J. Andrieux, C. Roumier, 2004, Genes, chromosomes & cancer.

Efficient generation of antileukemic autologous T cells by short-term culture and γ-irradiation of myeloid leukemic cells

B. Quesnel, R. Vereecque, J. Andrieux, 2004, Cancer Immunology, Immunotherapy.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Denise L. Perry, J. Rosenfeld, A. Reymond, 2018, Human mutation.

Congenital Heart Defects in Patients with Deletions Upstream of SOX9

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

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.

Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias

O. Bernard, E. Lippert, J. Andrieux, 2010, Leukemia.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

A. Verloes, J. Andrieux, A. Aboura, 2010, European journal of medical 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.

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

J. Andrieux, B. Delobel, J. Cuisset, 2008, European Journal of Medical Genetics.

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

M. Desai, J. Andrieux, F. Sheth, 2013, Molecular Cytogenetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

L. Faivre, G. Lefort, C. Thauvin-Robinet, 2011, Prenatal diagnosis.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

K. Devriendt, A. Coppola, J. Vermeesch, 2017, European Journal of Human Genetics.

Cryptic 6p21.3 duplications and triplication involving HMGA1 partially masked by add 6p in four cases of myelodysplasia.

F. Bauters, J. Andrieux, N. Dastugue, 2006, Cancer genetics and cytogenetics.

Hypodiploidy with 30-39 chromosomes and near-triploidy: two possible expressions of a sole entity conferring poor prognosis in Adult Acute Lymphoblastic Leukemia (ALL). A report from the LALA-94 and LALA-SA Groups

A. Bernheim, C. Bastard, L. Michaux, 2004 .

Does cytogenetic mosaicism in CD34+CD38low cells reflect the persistence of normal primitive hematopoietic progenitors in myeloid metaplasia with myelofibrosis?

M. Le Bousse-Kerdilès, V. Praloran, J. Andrieux, 2003, Blood.

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

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J. Andrieux, N. Gruchy, M. Kottler, 2012, The Journal of clinical endocrinology and metabolism.

Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system

L. Storme, J. Andrieux, F. Petit, 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.

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

E. Vassos, D. Collier, G. Breen, 2013, PloS one.

Clinical utility gene card for: 16p12.2 microdeletion

S. Girirajan, J. Andrieux, D. Amor, 2016, European Journal of Human Genetics.

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.

J. Andrieux, J. Weill, N. Lahlou, 2011, Endocrine journal.

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

K. Devriendt, J. Vermeesch, K. Kok, 2007, Journal of Medical Genetics.

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.

J. Andrieux, B. Delobel, P. Gosset, 2010, Fertility and sterility.

Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies

M. Odero, M. Calasanz, J. Vizmanos, 2005, Leukemia.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

The clinical significance of small copy number variants in neurodevelopmental disorders

A. Ekici, D. Fitzpatrick, C. Thiel, 2014, Journal of Medical Genetics.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Rita M Cantor, Stephan J Sanders, Christa Lese Martin, 2016, American journal of human 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.

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability

J. Andrieux, G. Lesca, O. Boute, 2013, American journal of medical genetics. Part A.

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

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

Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets

D. Rujescu, S. Cichon, A. Ingason, 2013, Translational Psychiatry.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)

F. Speleman, A. Hagemeijer, H. Cavé, 2003, Leukemia.

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

F. Escande, J. Andrieux, B. Keren, 2015, European Journal of Human Genetics.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

J. Andrieux, M. Mathieu, J. Rochette, 2015, Annales d'endocrinologie.

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

J. Andrieux, M. Mathieu-Dramard, G. Morin, 2015, Case reports in genetics.

Crane-Heise syndrome: two further case reports.

A. Toutain, J. Andrieux, F. Petit, 2011, European journal of medical genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

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.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

L. Vallée, J. Thevenon, L. Faivre, 2014, American journal of medical genetics. Part A.

Chromosomal insertion involving MLL in childhood acute myeloblastic leukemia (M4).

C. Preudhomme, J. Andrieux, J. Laï, 2004, Cancer genetics and cytogenetics.

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.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

J. Andrieux, J. Gondry, S. Chantot-Bastaraud, 2015, American journal of medical genetics. Part A.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

P. Gubellini, B. Jacq, N. Šestan, 2016, Nature Genetics.

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.

J. Andrieux, B. Delobel, S. Bouquillon, 2009, European journal of medical genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

Delineation of 15q13.3 microdeletions

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

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

C. Ruivenkamp, Kayoko Saito, M. Breuning, 2014, European journal of medical genetics.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.

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.

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

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

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

Philippe Amouyel, Luc Defebvre, L. Defebvre, 2004, Lancet.

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.

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

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

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

M. Budisteanu, S. Papuc, J. Andrieux, 2015, European journal of medical genetics.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

T. Wieland, T. Strom, D. Wieczorek, 2017, American journal of medical genetics. Part A.

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

A. Ekici, R. Heller, A. Reis, 2011, European journal of medical genetics.

Clinical Comparison of Overlapping Deletions of 19p13.3

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

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.

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.

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.

The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low‐Rhodamine123‐Retention Cell Compartment Enriched for Melanoma Stem Cell Activity

B. Quesnel, J. Andrieux, L. Mortier, 2013, Stem cells.

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.

F. Escande, J. Andrieux, B. Demeer, 2013, European journal of medical genetics.

Dermatologic Features of Smith–Magenis Syndrome

E. Colin, D. Bonneau, J. Andrieux, 2015, Pediatric dermatology.

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

J. Lupski, L. Vallée, J. Andrieux, 2008, American journal of medical genetics. Part A.

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.

Whole ARX gene duplication is compatible with normal intellectual development

N. Philip, J. Andrieux, A. Moncla, 2014, American journal of medical genetics. Part A.

Long-term outcome in acquired aplastic anemia treated with an intensified dose schedule of horse antilymphocyte globulin in combination with androgens

A. Duhamel, F. Bauters, X. Leleu, 2006, Annals of Hematology.

Irregular nuclear shape of bone marrow plasma cells defines a multiple myeloma subgroup related to hypodiploidy and to short survival.

A. Duhamel, X. Leleu, J. Andrieux, 2005, Leukemia research.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

M. Devignes, C. Philippe, P. Jonveaux, 2013, European Journal of Human Genetics.

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

G. Houge, A. Rauch, P. Joset, 2013, European Journal of Human 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.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions

A. Afenjar, P. Jouk, J. Andrieux, 2017, American journal of medical genetics. Part A.

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.

J. Andrieux, L. Devisme, A. Valat, 2004, European journal of medical genetics.

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

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

J. Andrieux, J. Motte, V. Sulmont, 2008, European journal of medical genetics.

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

S. Lyonnet, M. Vekemans, J. Andrieux, 2007, Journal of Medical Genetics.

ELN gene triplication responsible for familial supravalvular aortic aneurysm

G. Jondeau, J. M. van de Kamp, C. Boileau, 2014, Cardiology in the Young.

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.

Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH

J. Andrieux, B. Delobel, E. Delaby, 2009, American journal of medical genetics. Part A.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

J. Andrieux, S. Odent, X. Zanlonghi, 2011, European Journal of Human Genetics.

Clinical utility gene card for: 16p13.11 microdeletion syndrome

D. Collier, M. Tropeano, J. Andrieux, 2013, European Journal of Human Genetics.

Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies

C. Férec, J. Andrieux, M. Audrézet, 2002, Journal of medical genetics.

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.

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

S. Chevret, H. Blons, V. Eclache, 2013, Haematologica.

Acute megakaryoblastic leukemia with der(7)t(5;7)(q11;p11∼p12) associated with Down syndrome: a fourth case report

J. Andrieux, N. Dastugue, J. Laï, 2006 .

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

C. Ruivenkamp, G. Annéren, J. Andrieux, 2011, European Journal of Human Genetics.

Short communication Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia

P. Morel, F. Bauters, J. Andrieux, 2002 .

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.

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum : case report and review of the literature

J. Andrieux, L. Devisme, A. Valat, 2005 .

Pure interstitial dup(6)(q22.31q22.31) – a case report

J. Andrieux, J. Blouin, F. Sheth, 2015, Italian Journal of Pediatrics.

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

J. Andrieux, F. Sheth, Mizanur Rahman, 2014, Clinical medicine insights. Pediatrics.

Characterization of sSMC by FISH and molecular techniques.

T. Liehr, S. Nampoothiri, S. Romana, 2011, European journal of medical genetics.

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

J. Andrieux, B. Delobel, F. Leprêtre, 2008, European journal of medical genetics.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

A severe prenatal presentation of Cat Eye Syndrome.

J. Andrieux, H. Sevestre, J. Rochette, 2013, Clinical Dysmorphology.

Supernumerary marker chromosome in a child with microcephaly and mental retardation

J. Andrieux, F. Sheth, J. Sheth, 2010, Indian pediatrics.

Clinical utility gene card for: 15q13.3 microdeletion syndrome

E. Vassos, D. Collier, M. Tropeano, 2014, European Journal of Human Genetics.

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

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.

ider(20q) in Myeloid Malignancies

J. Andrieux, J. Laï, N. Douet-Guilbert, 2011 .

Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

V. Ugo, J. Andrieux, J. Laï, 2009, Annals of Hematology.

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.

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.

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

J. Andrieux, F. Sheth, J. Clayton Smith, 2017, Clinical genetics.

Prenatal diagnosis of Nager syndrome in a monochorionic‐diamniotic twin pregnancy

J. Andrieux, L. Devisme, S. Manouvrier-Hanu, 2009, Prenatal diagnosis.

Quintuplets after a transfer of two embryos following in vitro fertilization: a proved superfecundation.

J. Andrieux, M. Leroy, M. Peigné, 2011, Fertility and sterility.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

A. De Paepe, J. Andrieux, Toshiyuki Yamamoto, 2016, European journal of medical genetics.

Three new cases of non-Hodgkin lymphoma with t(9;14)(p13;q32).

M. Copin, B. Quesnel, F. Bauters, 2003, Cancer genetics and cytogenetics.

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

M. Desai, J. Andrieux, F. Sheth, 2013, Molecular Cytogenetics.

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

L. Storme, J. Andrieux, S. Bouquillon, 2011, European journal of medical genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

On the role of FAN1 in Fanconi anemia.

J. Surrallés, D. Schindler, M. Bogliolo, 2012, Blood.

On the role of FAN 1 in Fanconi anemia

J. Surrallés, D. Schindler, M. Bogliolo, 2012 .

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

G. Houge, A. Rauch, P. Joset, 2013, European Journal of Human Genetics.

Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system

C. Férec, J. Andrieux, M. Audrézet, 2002, Clinical genetics.

Hypertelorism‐microtia‐clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

J. Andrieux, D. Subtil, J. Amiel, 2009, Prenatal diagnosis.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Clinical utility gene card for: 16p12.2 microdeletion

S. Girirajan, J. Andrieux, D. Amor, 2017, European Journal of Human Genetics.

Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome

J. Andrieux, M. Braekeleer, C. Delattre, 2008, British journal of haematology.

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

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

The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low‐Rhodamine123‐Retention Cell Compartment Enriched for Melanoma Stem Cell Activity

B. Quesnel, J. Andrieux, L. Mortier, 2013, Stem cells.

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 .

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

K. Devriendt, J. Vermeesch, K. Kok, 2007, Journal of Medical Genetics.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

C. Thauvin-Robinet, J. Andrieux, P. Sagot, 2011, Prenatal diagnosis.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families

P. Jouk, B. Gilbert-Dussardier, L. Pasquier, 2014, Clinical genetics.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.

ELN gene triplication responsible for familial supravalvular aortic aneurysm

G. Jondeau, J. M. van de Kamp, C. Boileau, 2014, Cardiology in the Young.

Karyotype and molecular cytogenetic studies in polycythemia vera.

J. Andrieux, J. Demory, 2005, Current hematology reports.