A. Afenjar

C. Betancur, E. Hatchwell, D. Campion, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Anne de Saint Martin, A. Afenjar, P. Berquin, 2021, Epilepsy & Behavior.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

A. Afenjar, D. Sternberg, S. Chantot-Bastaraud, 2018, American journal of medical genetics. Part A.

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.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

R. Delorme, F. Rivier, A. Afenjar, 2012, Orphanet Journal of Rare Diseases.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

M. Vidailhet, A. Durr, A. Brice, 2009, Movement Disorders.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

A. Afenjar, C. Barnérias, P. de Lonlay, 2010, Journal of Medical Genetics.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

A. Afenjar, A. Capuano, B. Dallapiccola, 2021, Journal of Medical Genetics.

Polyhandicap and aging.

K. Baumstarck, A. Loundou, P. Auquier, 2019, Disability and health journal.

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.

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

A. Afenjar, R. Wanders, C. Vaurs-Barrière, 2012, Journal of the Neurological Sciences.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

A. Afenjar, V. Cormier-Daire, J. Amiel, 2022, Orphanet Journal of Rare Diseases.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Z. Tümer, A. Afenjar, R. Møller, 2021, Clinical genetics.

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect

M. Stern, A. Afenjar, D. Stoppa-Lyonnet, 2019, Human mutation.

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 .

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

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

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Author Correction: 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.

Deletion of filamin A in two female patients with periventricular nodular heterotopia

A. Afenjar, S. Aradhya, K. Boycott, 2012, American journal of medical genetics. Part A.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

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.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A. Afenjar, P. Billuart, N. Lebrun, 2018, NeuroMolecular Medicine.

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

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance

A. Afenjar, A. Toutain, S. Cabrol, 2011 .

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

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

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

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Michael F. Wangler, C. Cytrynbaum, R. Weksberg, 2023, American journal of human 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.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

V. Narayanan, A. Afenjar, T. Chou, 2023, American journal of human genetics.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

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

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

Growth charts in DYRK1A syndrome

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

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, H. Lerche, G. Rubboli, 2018 .

OXR1 maintains the retromer to delay brain aging under dietary restriction

Rachel B. Brem, A. Afenjar, E. Dammer, 2024, Nature communications.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

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.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

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.