B. Cogné

发表

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

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.

MAN1B1-CDG: Three new individuals and associated biochemical profiles

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

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Eric N. Anderson, Michael T. Zimmermann, Nikita R. Dsouza, 2020, Acta Neuropathologica.

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.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

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

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.

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

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

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.

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.

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.

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.

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

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

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.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA

B. Cogné, T. Larcher, Laetitia van Wittenberghe, 2015, Molecular therapy. Methods & clinical development.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

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.

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

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

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical 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.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

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

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.

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.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

A dominant vimentin variant causes a rare syndrome with premature aging

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

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

R. Redon, A. Toutain, A. Boland, 2018, Clinica chimica acta; international journal of clinical chemistry.

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

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

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

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

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.

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.

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

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

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

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

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.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

NGS library preparation may generate artifactual integration sites of AAV vectors

R. Redon, B. Cogné, P. Lindenbaum, 2014, Nature Medicine.

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.

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

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

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.

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.

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.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

R. Redon, B. Cogné, Achille François, 2015, Molecular therapy. Nucleic acids.

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.

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.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

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.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

I. Simonic, Soo-Mi Park, D. Mitter, 2018, Annals of neurology.

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.

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.

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.

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.

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.

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.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

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.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of 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, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

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

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

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

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.

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.

Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells.

B. Cogné, E. Ayuso, M. Penaud-Budloo, 2017, Human gene therapy methods.

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

B. Dallapiccola, M. Tartaglia, B. Cogné, 2022, Clinical genetics.

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.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

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.

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.

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.

A dominant vimentin variant causes a rare syndrome with premature aging

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

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

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.

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.

Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis

C. Bénéteau, B. Cogné, D. Heron, 2022, Clinical genetics.

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

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

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

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

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.

Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.

B. Cogné, T. Porntaveetus, V. Shotelersuk, 2023, Journal of dermatological science.

M. Shinawi, B. Cogné, Georgia Vasileiou, 2023, Clinical 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.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

J. Lupski, P. Sulem, S. Küry, 2024, American journal of human genetics.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

F. Lecoquierre, B. Cogné, W. Deb, 2024, European journal of medical genetics.

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

R. Pfundt, B. Cogné, T. Harel, 2024, Life Science Alliance.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

A. Kaykas, C. Bénéteau, B. Cogné, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.