C. Dubourg

W. Carré, C. Dubourg, C. Quélin, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

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

A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4, CYP3A5, CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, and VKORC1 Genes

É. Bellissant, F. Lamoureux, M. Galibert, 2022, Pharmaceuticals.

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

L. Pasquier, M. Gonzalès, F. Encha-Razavi, 2005, Journal of Medical Genetics.

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

I. Gicquel, N. Garcelon, L. Pasquier, 2011, Journal of Medical Genetics.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, H. Hamdi-Rozé, 2016, Clinical genetics.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Disrupted hypothalamo-pituitary axis in association with reduced SHH underlies the pathogenesis of NOTCH-deficiency.

Artem Kim, W. Carré, H. Hamdi-Rozé, 2020, The Journal of clinical endocrinology and metabolism.

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

I. Gicquel, A. Laquérriere, L. Pasquier, 2013, Molecular Syndromology.

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

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

The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural alterations of the ligand or its altered synthesis

S. Bale, A. Paulussen, D. Pineda-Alvarez, 2009, Human mutation.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

L. Pasquier, S. Mercier, S. Odent, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism

S. Bale, A. Paulussen, M. Muenke, 2009, Human mutation.

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

P. Beachy, M. Muenke, Yong Ma, 2009, Human Genetics.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

L. Pasquier, M. Fradin, S. Odent, 2022, European Journal of Medical Genetics.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

K. Tarte, K. Devriendt, B. Gener, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population.

P. Fergelot, J. L. Le Gall, B. Chauvel, 1994, Clinical chemistry.

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

L. Pasquier, C. Le Caignec, B. Paniel, 2011, Orphanet journal of rare diseases.

Holoprosencephaly

L. Pasquier, S. Odent, C. Dubourg, 2007, Orphanet journal of rare diseases.

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

S. Mottier, I. Gicquel, L. Pasquier, 2007, Human mutation.

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

I. Gicquel, T. Frebourg, L. Pasquier, 2006, Human Genetics.

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

I. Gicquel, M. Huizing, L. Pasquier, 2005, Journal of Medical Genetics.

Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly*

D. Rognan, S. Odent, C. Dubourg, 2004, Journal of Biological Chemistry.

Phenotypic and molecular variability of the holoprosencephalic spectrum

L. Pasquier, S. Odent, M. Blayau, 2004, American journal of medical genetics. Part A.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

L. Pasquier, S. Odent, M. Blayau, 2004, Human mutation.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

Analysis of genotype–phenotype correlations in human holoprosencephaly

D. Pineda-Alvarez, M. Muenke, B. Solomon, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

J. L. Le Gall, D. Le Lannou, S. Odent, 2000, Molecular human reproduction.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Laurence Faivre, Claude Bendavid, Alice Goldenberg, 2009, Archives of general psychiatry.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

T. Bohan, I. Gicquel, V. Dupé, 2011, Human molecular genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

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.

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.

Delineation of 15q13.3 microdeletions

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

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Xia Li, A. Yocum, M. Muenke, 2008, Nature Genetics.

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

V. Bours, L. Pasquier, A. Lehman, 2020 .

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

A. Toutain, N. Chassaing, W. Carré, 2016, Human mutation.

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.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

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.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

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.

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

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

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

L. Pasquier, M. Gerard-Blanluet, A. Aboura, 2008, Journal of Medical Genetics.

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.

R. Jockers, V. Vauthier, J. Dam, 2012, Molecular genetics and metabolism.

HOMOZYGOUS DELETION OF A 80 KB REGION COMPRISING THE DNAJ6C GENE AND PART OF THE LEPR GENE ON CHROMOSOME 1P31.3 IS ASSOCIATED WITH EARLY ONSET OBESITY, MENTAL RETARDATION AND EPILEPSY

R. Jockers, V. Vauthier, J. Dam, 2012 .

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

L. Vissers, R. Pfundt, O. Devinsky, 2021, medRxiv.

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.

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

A. Sinclair, C. Ravel, E. Tucker, 2020, Maturitas.

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

I. Gicquel, L. Pasquier, S. Odent, 2007, European journal of medical genetics.

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

L. Pasquier, S. Odent, C. Dubourg, 2014, European journal of medical genetics.

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.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases

J. L. Le Gall, C. Dubourg, B. Toutain, 2000, Cytogenetic and Genome Research.

Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog

G. Neri, L. Garavelli, F. Gurrieri, 2004, American journal of medical genetics. Part A.

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

Michelle Ware, Frédérique Barloy-Hubler, I. Gicquel, 2013, Neural Development.

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients

F. Denoyelle, Y. Le Bouc, J. Siffroi, 2007, Clinical dysmorphology.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Barthélémy, S. Julia, A. Toutain, 2014, Molecular Syndromology.

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.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

A. Boland, J. Deleuze, E. Colin, 2023, Frontiers in Cell and Developmental Biology.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Recent advances in understanding inheritance of holoprosencephaly

Artem Kim, E. Watrin, V. Dupé, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, 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.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Promoter analysis of the human translation termination factor 1 gene.

J. L. Le Gall, C. Dubourg, B. Toutain, 2003, Gene.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

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.

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

C. Moreau, L. Pasquier, S. Odent, 2020, Molecular genetics and metabolism reports.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, C. Freitag, W. van Paesschen, 2018, American journal of human genetics.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Steve D. M. Brown, Thomas M. Keane, Iain M. Dykes, 2018, Scientific Reports.

French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism

P. Fergelot, J. L. Le Gall, B. Chauvel, 1995, Human mutation.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Recurrent rearrangements in synaptic and neurodevelopmental genes 1 support the existence of shared biological pathways 2 between Schizophrenia , Autism and Mental Retardation

D. Campion, C. Barthélémy, V. Drouin‐Garraud, 2008 .

[Genetic study of holoprosencephaly].

L. Pasquier, S. Odent, M. Blayau, 2003, Annales de biologie clinique.

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.

Our current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

D. Pineda-Alvarez, M. Muenke, C. Dubourg, 2010 .

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

W. Carré, L. Pasquier, L. Faivre, 2020, Clinical genetics.

Array‐CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

J. Mosser, I. Gicquel, A. Laquérriere, 2009, Human mutation.

Holoprosencephaly: An update on cytogenetic abnormalities

I. Gicquel, V. Dupé, C. Dubourg, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review

G. Mortier, A. Verloes, C. Baumann, 2009, American journal of medical genetics. Part A.

Regulation of a remote Sonic hedgehog forebrain enhancer by the Six 3 homeoprotein

Guillermo, A. Yocum, M. Muenke, 2009 .

Clinical utility gene card for: Holoprosencephaly

D. Pineda-Alvarez, A. Gropman, M. Muenke, 2011, European Journal of Human Genetics.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

L. Pasquier, M. Rolland, C. Dubourg, 2022, Pediatric dermatology.

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

L. Pasquier, M. Fradin, S. Odent, 2023, European journal of medical genetics.

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.

S. Dréano, D. Gilot, F. Mouriaux, 2023, The CRISPR journal.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene.

J. L. Le Gall, C. Dubourg, M. Lessard, 2002, Cancer genetics and cytogenetics.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

C. Le Caignec, O. Pichon, C. Dubourg, 2019, American journal of medical genetics. Part A.

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

M. Babron, W. Carré, C. Mouden, 2015, PloS one.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

J. Rivière, J. Thevenon, L. Faivre, 2018, Clinical genetics.

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.

L. Christa, P. de Lonlay, M. Maubert, 2015, JIMD reports.

OP-BRAI180292 35..49

Artem Kim, Clara Savary, W. Carré, 2018 .

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

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

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

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.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Steve D. M. Brown, Thomas M. Keane, Iain M. Dykes, 2018, Scientific Reports.

Orphanet Journal of Rare Diseases

L. Pasquier, J. Manson, S. Odent, 2006 .

Orphanet Journal of Rare Diseases BioMed Central Review

L. Pasquier, A. Bloch-Zupan, C. Dubourg, 2006 .

Orphanet Journal of Rare Diseases

L. Pasquier, C. Dubourg, Open Access, 2019 .

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 .

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

S. Odent, P. Poulain, C. Dubourg, 2011, European journal of medical genetics.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

Artem Kim, Clara Savary, W. Carré, 2018, bioRxiv.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, V. Dupé, 2016, Clinical genetics.

Holoprosencephaly: An update on cytogenetic abnormalities

I. Gicquel, V. Dupé, C. Dubourg, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

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.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.