B. Isidor

发表

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

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

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

A. Durr, S. Forlani, A. Brice, 2009, Brain : a journal of neurology.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

N. Romero, L. Pasquier, S. Mercier, 2021, Acta neuropathologica communications.

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.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, 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.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

A. Toutain, A. Wilkie, J. Galbany, 2019, Human mutation.

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

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

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, 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.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review

B. Le Goff, B. Isidor, Romain Dalla-Torre, 2022, Frontiers in Medicine.

A brain abscess following dental extractions in a patient with hereditary hemorrhagic telangiectasia.

R. Khonsari, B. Isidor, P. Corre, 2011, The British journal of oral & maxillofacial surgery.

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.

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.

Could pharyngeal fat injection be a first-line treatment of velopharyngeal insufficiency?

R. Khonsari, B. Isidor, P. Corre, 2021, Journal of stomatology, oral and maxillofacial surgery.

MAN1B1-CDG: Three new individuals and associated biochemical profiles

E. Schmitt, B. Cogné, B. Isidor, 2021, Molecular genetics and metabolism reports.

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Y. Le Bouc, M. Cuvelier, B. Isidor, 2019, Journal of Medical Genetics.

Inactive matriptase‐2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

C. Beaumont, C. Oudin, B. Grandchamp, 2012, Human mutation.

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.

L. Vercueil, A. Afenjar, S. Auvin, 2013, Orphanet Journal of Rare Diseases.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus

B. Isidor, P. Quartier, J. Roth, 2008, Acta paediatrica.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

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.

Redefining the MED13L syndrome

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

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project

R. Redon, P. Lebranchu, B. Isidor, 2017, Neurosurgery.

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

A. Pagnamenta, N. Drouot, I. Sumara, 2016, Nature 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.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

H. Cavé, P. Rohrlich, E. W. Van Den Neste, 2018, Haematologica.

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 .

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

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

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

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.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

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.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

E. Eichler, J. Chrast, A. Reymond, 2022, npj Genomic Medicine.

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

B. Peterlin, G. Damante, B. Isidor, 2018, Molecular Cytogenetics.

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

B. Isidor, S. Bézieau, X. Latypova, 2021, Orphanet Journal of Rare Diseases.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

[Should the knowledge be imperative? The key challenge of high throughput genetics].

S. Julia, B. Isidor, M. Vincent, 2017, Medecine sciences : M/S.

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

T. Arnesen, J. Rivière, G. Mancini, 2016, Human mutation.

Coffin–Siris syndrome is a SWI/SNF complex disorder

N. Matsumoto, Y. Makita, H. Ohashi, 2014, Clinical genetics.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: 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.

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

J. Laplanche, B. Isidor, P. Corre, 2019, American journal of medical genetics. Part A.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

H. Kayserili, Kenneth Lay, A. Bertoli-Avella, 2022, Nature Genetics.

SETD1B-associated neurodevelopmental disorder

Steven J. M. Jones, M. Farrer, C. V. van Karnebeek, 2020, Journal of Medical Genetics.

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2016, Journal of Human 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.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

J. Gécz, A. Bayat, J. Wynn, 2022, Nature Communications.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of clinical medicine.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

Rede fi ning the MED 13 L syndrome

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

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

J. Laplanche, B. Isidor, M. Cohen-Solal, 2017, JBMR plus.

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder

R. Delorme, A. Verloes, B. Isidor, 2021, Clinical genetics.

Genetics of giant cell tumors of bone

M. Heymann, B. Isidor, F. Gouin, 2015 .

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

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

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 .

De novo duplication and deletions at 7q in a three‐generation family

L. Pérez-Jurado, C. Le Caignec, B. Isidor, 2012, American journal of medical genetics. Part A.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

M. Polak, B. Gilbert-Dussardier, C. Bénéteau, 2022, EBioMedicine.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

B. Cogné, S. Zuchner, L. Richard, 2016, Journal of neuropathology and experimental neurology.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

R. Pfundt, B. D. de Vries, I. Krantz, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

G. Leverger, T. Leblanc, B. Isidor, 2019, British journal of haematology.

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

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

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.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Ye Htet Aung, S. Berkovic, S. Petrou, 2019, Annals of clinical and translational neurology.

Population genetic screening: current issues in a European country

L. Pasquier, E. Rial‐Sebbag, B. Isidor, 2019, European Journal of Human Genetics.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

R. Redon, A. Toutain, B. Gilbert-Dussardier, 2020 .

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

M. Shaw, J. Gécz, N. Drouot, 2019, Human mutation.

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.

Oro-dental phenotype in patients with RUNX2 duplication.

C. Le Caignec, B. Isidor, Tony Prud’homme, 2019, European journal of medical genetics.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant

B. Cogné, B. Isidor, N. Gomez-Ospina, 2022, American journal of medical genetics. Part A.

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.

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

J. Lemaître, B. Isidor, F. Pellestor, 2019, Stem cell research.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2012, neurogenetics.

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.

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Zhichao Miao, A. Bloch-Zupan, B. Isidor, 2019, Journal of Human Genetics.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

J. Gécz, J. Mandel, O. Abdul-Rahman, 2018, Human molecular genetics.

Novel SUZ12 mutations in Weaver‐like syndrome

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

A. Afenjar, A. Boland, J. Deleuze, 2022, Frontiers in Cell and Developmental Biology.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

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.

Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome

C. Houdayer, B. Isidor, E. Thébaud, 2019, Ophthalmic genetics.

Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding

B. Isidor, A. Moreau, A. Chenouard, 2012, European Journal of Pediatrics.

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Zhichao Miao, A. Bloch-Zupan, B. Isidor, 2019, Journal of Human Genetics.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

P. Grant, N. Brunetti‐Pierri, D. Calame, 2022, American journal of human genetics.

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.

A dominant vimentin variant causes a rare syndrome with premature aging

S. Küry, B. Cogné, C. Chariau, 2020, European Journal of Human Genetics.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

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.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions

N. Paul, M. Heymann, B. Isidor, 2013, Journal of Human Genetics.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

D. Koboldt, N. Katsanis, S. Daiger, 2020, American journal of human genetics.

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.

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

B. Isidor, S. Bézieau, M. Vincent, 2017, Journal of Medical Case Reports.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

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.

Ribosomopathies: New Therapeutic Perspectives

B. Isidor, B. Ory, F. Lamoureux, 2020, Cells.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

D. Foell, E. Hoppenreijs, S. Holland, 2015, The Journal of allergy and clinical immunology.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

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.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

A. Jauch, K. Kutsche, C. Zweier, 2014, Orphanet Journal of Rare Diseases.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature

A. Toutain, S. Barbarot, B. Isidor, 2019, Pediatric dermatology.

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.

Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria).

S. Barbarot, B. Isidor, M. Pistorius, 2017, Diagnostic and interventional imaging.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Naomichi Matsumoto, Stéphane Bézieau, N. Matsumoto, 2016, Journal of Human Genetics.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

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

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

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.

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

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

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

B. V. van Bon, L. Vissers, B. D. de Vries, 2013, Journal of Medical Genetics.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

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.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

R. Stevenson, M. Lyons, J. Mandel, 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.

W. Dobyns, K. Aldinger, B. Isidor, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

C. Le Caignec, B. Isidor, O. Pichon, 2019, European journal of medical genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

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.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

M. Sanson, J. Soulier, I. Bièche, 2010, Human mutation.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

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.

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

M. Koenig, Julie Bianchi, A. Roux, 2022, Diagnostics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Delineation of 15q13.3 microdeletions

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

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non‐Polyalanine Repeat Expansion Mutations

O. Delattre, B. Isidor, F. Bourdeaut, 2016, Pediatric blood & cancer.

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

O. Delattre, V. Combaret, B. Isidor, 2011, European Journal of Human Genetics.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

R. Redon, A. Toutain, C. Retière, 2019, American journal of human genetics.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

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

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Stephanie E. Vallee, J. Rosenfeld, E. Eichler, 2012, Human mutation.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

A. Baruchel, H. Cavé, N. Philip, 2010, Journal of Medical Genetics.

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

A. Munnich, C. Picard, B. Isidor, 2008, Nature Genetics.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

E. Lemyre, R. Møller, H. Hjalgrim, 2019, Journal of Medical Genetics.

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

B. Peterlin, G. Damante, B. Isidor, 2018, Molecular Cytogenetics.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

C. Flamant, A. Toutain, A. Boland, 2021, European Journal of Human Genetics.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

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.

Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

N. Brunetti‐Pierri, C. Philippe, B. Isidor, 2022, American journal of medical genetics. Part A.

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.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Jen Q. Pan, Stephan J Sanders, H. Lerche, 2020, Epilepsia.

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

A. Afenjar, A. Toutain, B. Cogné, 2020, Clinical genetics.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Distinct phenotype of PHF6 deletions in females.

B. Klink, C. Le Caignec, B. Isidor, 2014, European 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 .

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

S. Antonarakis, P. Milani, S. Auvin, 2016, American journal of human genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

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.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

B. Snel, N. Rahman, M. Vermeulen, 2021, The EMBO journal.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Polymicrogyria in a child with KCNMA1-related channelopathy

N. Matsumoto, N. Miyake, S. Miyatake, 2021, Brain and Development.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

C. Le Caignec, B. Isidor, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

B. Snel, N. Rahman, M. Vermeulen, 2020, bioRxiv.

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

B. Rodríguez-Herreros, D. Romascano, B. Isidor, 2021, Molecular Autism.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

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

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

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American 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.

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

B. Isidor, A. Dieux, V. Cormier-Daire, 2019, Clinical genetics.

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.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature 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.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human 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.

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

R. Redon, E. Génin, C. Dina, 2018, American journal of human genetics.

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

W. Chung, A. Munnich, G. Bellus, 2021, Cold Spring Harbor molecular case studies.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of respiratory and critical care medicine.

Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Kiely N. James, Jason D. Heaney, J. Rosenfeld, 2017, American journal of human genetics.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

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.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

S. Küry, C. Bénéteau, B. Cogné, 2016, European Journal of Human Genetics.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

R. Redon, J. Honnorat, A. Toutain, 2021, American journal of human genetics.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

J. Chrast, A. Reymond, Z. Kutalik, 2022, npj Genomic Medicine.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

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.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, 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.

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.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

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.

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

A. Takata, N. Matsumoto, M. Shiina, 2019, American journal of human genetics.

Non‐USH2A mutations in USH2 patients

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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

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.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

R. Redon, S. Küry, J. Thevenon, 2019, Genetics in Medicine.

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.

Duplications at 19q13.33 in patients with neurodevelopmental disorders

P. Nürnberg, E. Pérez-Palma, G. D. De Ferrari, 2017, Neurology: Genetics.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

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

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

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.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia

S. Küry, Y. Péréon, S. Barbarot, 2017, 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.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

R. Pfundt, Philippe M. Campeau, B. Isidor, 2022, International journal of molecular sciences.

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

B. Isidor, J. Amiel, M. Rio, 2007, Journal of pediatric gastroenterology and nutrition.

Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin‐36 receptor antagonist

S. Barbarot, C. Le Caignec, B. Isidor, 2015, The British journal of dermatology.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

M. Cossée, B. Cogné, J. Rendu, 2023, Human Genomics.

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

The identification of giant platelets with disorganized granules can suggest ACTB gene mutation

M. Béné, B. Cogné, B. Isidor, 2022, International journal of laboratory hematology.

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

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

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2013, neurogenetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

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

N. Paul, P. Damier, C. Le Caignec, 2015, Movement disorders : official journal of the Movement Disorder Society.

Response to Kossmann Ferraz et al.

B. Isidor, M. Nizon, 2022, Genetics in Medicine.

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

D. Lipsker, C. Chiaverini, B. Isidor, 2022, European journal of medical genetics.

mAbs targeting RANKL in bone metastasis treatment

M. Heymann, F. Uckun, B. Isidor, 2013 .

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

P. Lapunzina, P. Blackburn, J. Nevado, 2019, European Journal of Human Genetics.

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

Albert David, C. Bénéteau, S. Barbarot, 2011, American journal of medical genetics. Part A.

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

W. Huttner, P. Gressens, S. Eliez, 2016, Cortex.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive

Y. Gillerot, H. Brunner, A. Verloes, 2006, American journal of medical genetics. Part A.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

A. Toutain, F. Escande, B. Isidor, 2017, Clinical 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.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.

De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy

D. Kullmann, P. Striano, F. Zara, 2022, Epilepsia.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

C. Le Caignec, B. Isidor, O. Pichon, 2016, American journal of medical genetics. Part A.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities

R. Khonsari, C. Le Caignec, B. Isidor, 2018, American journal of medical genetics. Part A.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in Medicine.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

M. Gross, K. Sekiguchi, D. Milewicz, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Familial deep endometriosis: A rare monogenic disease?

S. Ploteau, B. Isidor, X. Latypova, 2017, European journal of obstetrics, gynecology, and reproductive biology.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

N. Winer, A. Paumier, D. Krakow, 2009, Prenatal diagnosis.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

G. Mancini, D. Bick, J. Thevenon, 2019, Human molecular genetics.

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

M. Cossée, C. Marelli, B. Isidor, 2022, Brain : a journal of neurology.

Surgical management of lower lip pits in Van der Woude syndrome.

B. Isidor, H. Bertin, G. Diallo-Hornez, 2017, Journal of stomatology, oral and maxillofacial surgery.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1.

J. Berthelot, Y. Maugars, B. Isidor, 2013, Joint, bone, spine : revue du rhumatisme.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

A dominant vimentin variant causes a rare syndrome with premature aging

S. Küry, B. Cogné, C. Chariau, 2020, European Journal of Human Genetics.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

Challenges of preconception genetic testing in France: A qualitative study.

B. Isidor, X. Latypova, M. Jourdain, 2022, European journal of medical genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

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

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

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant

N. Winer, B. Isidor, B. Beck, 2018, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Letter regarding the article "Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

B. Isidor, X. Latypova, Xiao Dang, 2021, European journal of medical genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

G. Rubboli, B. Isidor, A. Sabers, 2023, Frontiers in neuroscience.

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

A. Toutain, J. Deleuze, L. Pasquier, 2023, Journal of Medical Genetics.

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

A. Wilde, R. L. Lekanne Deprez, S. Mercier, 2023, Netherlands Heart Journal.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

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.

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.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2020 .

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

Patients with isolated oligo/hypodontia caused by RUNX2 duplication

C. Le Caignec, B. Isidor, O. Pichon, 2015, American journal of medical genetics. Part A.

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

C. Boileau, P. Arnaud, B. Isidor, 2016, Molecular Syndromology.

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

A. Munnich, B. Isidor, B. Bader-Meunier, 2007, Human Genetics.

Expanding the Spectrum of PMM2-CDG Phenotype.

B. Isidor, A. David, S. Vuillaumier‐Barrot, 2012, JIMD reports.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 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.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human 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 .

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

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.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.

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

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

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, 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.

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

R. Pfundt, M. Reijnders, S. Küry, 2018, Clinical 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.

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

S. Ehl, A. Yoshimi, B. Isidor, 2023, Clinical immunology.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.

RNA variant assessment using transactivation and transdifferentiation

A. Spurdle, C. Poulton, M. Corbett, 2024, American journal of human genetics.

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

Nurit Assia Batzir, S. Ehl, R. Hite, 2024, Science advances.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

D. Foell, E. Hoppenreijs, S. Holland, 2015, The Journal of allergy and clinical immunology.