B. Keren

发表

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

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

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

S. Christin‐Maitre, S. Chantot-Bastaraud, J. Siffroi, 2012, European journal of medical genetics.

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.

S. Sisodiya, J. Cross, A. Basu, 2021, Neurology.

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

M. Farrer, I. Guella, M. Demos, 2017, American journal of human genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

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.

Oligonucleotide microarrays in constitutional genetic diagnosis

C. Le Caignec, B. Keren, 2011, Expert review of molecular diagnostics.

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

E. Donal, P. Charron, F. Hidden‐Lucet, 2017, PloS one.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

C. Depienne, C. Richelme, A. Kaminska, 2018, Brain and Development.

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

C. Fallet-Bianco, N. Boddaert, N. Lebrun, 2010, Human molecular genetics.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

L. Cuisset, B. Cogné, C. Thauvin-Robinet, 2021, Human mutation.

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

Increased diagnostic yield in complex dystonia through exome sequencing.

N. Drouot, P. Burbaud, L. Cif, 2020, Parkinsonism & related disorders.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of

H. Cavé, A. Verloes, C. Baumann, 2013 .

The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

H. Cavé, A. Verloes, C. Baumann, 2007, Pediatrics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, 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.

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Edward R. Smith, D. Geschwind, J. Broach, 2020, Nature Medicine.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

K. Lachlan, M. Lees, J. Juusola, 2020, American journal of medical genetics. Part A.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

M. Leboyer, C. Depienne, A. Brice, 2013, European Journal of Human Genetics.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

I. Helbig, B. Kennedy, A. Gelot, 2022, bioRxiv.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Ethical Issues Raised by the Clinical Implementation of New Diagnostic Tools for Genetic Diseases in Children: Array Comparative Genomic Hybridization (aCGH) as a Case Study

L. Bouneau, S. Julia, P. Calvas, 2015 .

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects.

C. Bellanné-Chantelot, D. Dubois-Laforgue, J. Timsit, 2017, Diabetes & metabolism.

Catatonia in Children and Adolescents: A High Rate of Genetic Conditions.

D. Levinson, D. Cohen, N. Bodeau, 2018, Journal of the American Academy of Child and Adolescent Psychiatry.

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome

S. Chantot-Bastaraud, I. Netchine, S. Azzi, 2017, Human mutation.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

B. V. van Bon, R. Pfundt, G. Carvill, 2021, American journal of human genetics.

Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome

R. Jech, J. Winkelmann, M. Zech, 2021, Annals of clinical and translational neurology.

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

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

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

D. Galanaud, F. Sedel, C. Depienne, 2010, Archives of neurology.

Myoclonus-dystonia due to maternal uniparental disomy.

M. Vidailhet, C. Klein, E. Apartis, 2008, Archives of neurology.

Congenital immobility and stiffness related to biallelic ATAD1 variants

A. Afenjar, D. Rodriguez, T. Billette de Villemeur, 2020, Neurology: Genetics.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

L. Pasquier, S. Lyonnet, C. Gicquel, 2014, Human molecular genetics.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

C. Depienne, A. Brice, Y. Le Bouc, 2013, European journal of medical genetics.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

S. Mundlos, M. Spielmann, T. Strom, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Elizabeth L. Fieg, F. Charron, G. Rouleau, 2019, American journal of human genetics.

Hunting for the genetic basis of Susac syndrome

P. Dieudé, C. Boileau, B. Keren, 2021, European journal of neurology.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical 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.

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene

M. Elmaleh, M. Passos-Bueno, A. Verloes, 2007, American journal of medical genetics. Part A.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

B. Gener, C. Depienne, S. Julia, 2016, Orphanet Journal of Rare Diseases.

HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy

M. Baulac, P. Striano, A. Brice, 2014 .

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS Genetics.

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

A. Vénisse, X. Jeunemaître, K. Bénistan, 2017, Genetics in Medicine.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS genetics.

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

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

DYRK1A mutations in two unrelated patients.

C. Depienne, D. Lederer, V. Benoit, 2015, European journal of medical genetics.

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

B. Cogné, A. Piton, L. Villard, 2021, Journal of Medical Genetics.

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

J. Rosenfeld, F. Alkuraya, A. Afenjar, 2019, American journal of human genetics.

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

M. Tejada, M. Ruzhnikov, E. Brimble, 2021, Human mutation.

GM3 synthase deficiency in non-Amish patients

C. Schwartz, J. Thevenon, L. Faivre, 2021, Genetics in Medicine.

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

R. Carrozzo, L. Cendron, A. Torraco, 2022, Cell Death & Disease.

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

A. Bertoli-Avella, Y. Jamshidi, Marie-Christine Nouguès, 2022, Clinical genetics.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

A. Durr, J. Melki, O. Boespflug-Tanguy, 2019, Tremor and other hyperkinetic movements.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

D. Hannequin, T. Frebourg, K. Cassinari, 2021, American journal of medical genetics. Part A.

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 exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

R. Redon, E. Génin, K. Devriendt, 2020, Clinical genetics.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

T. Bourgeron, R. Delorme, C. Gillberg, 2012, Translational Psychiatry.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature 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.

Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.

A. Represa, A. Gelot, B. Keren, 2022, Journal of neuropathology and experimental neurology.

Management of brachial artery aneurisms in infants

J. Valla, M. Poli-Mérol, B. Keren, 2008, Pediatric Surgery International.

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.

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

A. Afenjar, S. Chantot-Bastaraud, J. Siffroi, 2015, 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.

Pure proximal deletion of chromosome 21 and kyphosis.

A. Toutain, S. Romana, M. Vekemans, 2007, 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 different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

C. Depienne, O. Trouillard, D. Heron, 2011, American journal of medical genetics. Part A.

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

F. Pasquier, E. Solary, W. Vainchenker, 2015, Nature Genetics.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

A. Afenjar, B. Gérard, A. Piton, 2021, American journal of medical genetics. Part A.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

C. Bellanné-Chantelot, S. Beaufils, J. Donadieu, 2014, Pediatric blood & cancer.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Cntnap4/Caspr4 Differentially Contributes to GABAergic and Dopaminergic Synaptic Transmission

T. Bourgeron, R. Delorme, H. Hakonarson, 2014, Nature.

[New technologies for the human genome exploration].

B. Keren, D. Sanlaville, C. Schluth-Bolard, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

U. Löbel, Philippe M. Campeau, D. Lessel, 2021, 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.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

M. Ruberg, V. Guillemot, C. Depienne, 2015, Amino Acids.

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

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

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

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.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

S. Auvin, L. Pasquier, C. Philippe, 2014, Journal of Medical Genetics.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

T. Mullen, S. Edvardson, A. Shaag, 2017, American journal of human genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

PTPN4 germline variants result in aberrant neurodevelopment and growth

R. Płoski, A. Wynshaw-Boris, L. Escobar, 2021, HGG advances.

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

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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

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

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

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

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

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.

14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma

L. Michaux, E. Lippert, V. Eclache, 2014, Genes, chromosomes & cancer.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

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.

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

J. Siffroi, M. Portnoï, W. Carpentier, 2009, European journal of medical genetics.

Possible Implication of RNF135 in High Type 1 Neurofibromatosis Tumoral Risk

S. Chantot-Bastaraud, F. Ader, B. Keren, 2018 .

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

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

C. Depienne, V. des Portes, A. Rastetter, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Gain in the short arm of chromosome 2 (2p+) induces gene overexpression and drug resistance in chronic lymphocytic leukemia: analysis of the central role of XPO1

P. Feugier, S. Leprêtre, F. Davi, 2017, Leukemia.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

G Mortier, G. Mortier, H. Cavé, 2004, Journal of Medical Genetics.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

A. Durr, C. Depienne, A. Brice, 2010, neurogenetics.

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 .

La déficience intellectuelle : du diagnostic en puces ADN à l'identification de gènes candidats

B. Keren, 2013 .

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

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

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

A. Verloes, J. Xavier, A. Delahaye-Duriez, 2018, Clinical genetics.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

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.

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.

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.

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C. Depienne, C. Cazeneuve, R. Nabbout, 2008, Journal of Medical Genetics.

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Y. Agid, M. Vidailhet, P. Krack, 2019, Tremor and other hyperkinetic movements.

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

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

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

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

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

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

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.

Simultaneous Hyper‐ and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

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