C. Francannet

发表

Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: A multicenter case–control study

E. Van Obberghen, D. Luton, J. Oury, 2008, American journal of medical genetics. Part A.

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.

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2007, European Journal of Human Genetics.

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France.

V. Sapin, A. Labbé, F. Vendittelli, 2006, European journal of obstetrics, gynecology, and reproductive biology.

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

F. Escande, F. Fellmann, M. Ros, 2020, Nature Communications.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families

D. Figarella-Branger, J. Pouget, A. Beaufrère, 2001, Neuromuscular Disorders.

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

C. Philippe, P. Jonveaux, C. Francannet, 2009, Journal of Medical Genetics.

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

Denaturing high‐performance liquid chromatography (DHPLC)‐based prenatal diagnosis for tuberous sclerosis

P. Bénit, A. Munnich, P. Ray, 2001, Prenatal diagnosis.

False positive morphologic diagnoses at the anomaly scan: marginal or real problem, a population-based cohort study

F. Vendittelli, D. Lémery, C. Francannet, 2014, BMC Pregnancy and Childbirth.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

The Epidemiology of Cardiovascular Defects, Part 2: A Study Based on Data from Three Large Registries of Congenital Malformations

P. Pradat, C. Francannet, J. Harris, 2003, Pediatric Cardiology.

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.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts

C. Perret, C. Chevrier, S. Cordier, 2007, American journal of medical genetics. Part A.

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.

Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry‐based study

J. Deprest, V. Sapin, A. Labbé, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

P. Jouk, P. Ray, J. Lunardi, 2010, Prenatal diagnosis.

Association between hereditary predisposition to common cancers and congenital multimalformations

Y. Bignon, F. Kwiatkowski, N. Uhrhammer, 2019, Congenital anomalies.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

C. V. van Ravenswaaij-Arts, T. Frebourg, S. Coutant, 2020, Human mutation.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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

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

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

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.

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

J. Vermeesch, A. Benachi, A. Briand-Suleau, 2014, European journal of medical genetics.

[Registries of malformations in the Rhône-Alps/Auvergne region. Value and limits of monitoring teratogenesis. 11 years' experience (1976-1986)].

C. Francannet, E. Robert, J. Robert, 1988, Journal de gynecologie, obstetrique et biologie de la reproduction.

Prenatal diagnosis of spina biflda aperta after first‐trimester valproate exposure

C. Boisson, C. Francannet, E. Robert, 1993, Prenatal diagnosis.

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

C. Francannet, A. Tchirkov, P. Vago, 2012, European journal of medical genetics.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?

C. Bonaïti‐pellié, S. Cordier, C. Francannet, 2004, Annales de genetique.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

C. Francannet, A. Tchirkov, P. Vago, 2014, European journal of medical genetics.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

J. Hardelin, Jacques Young, J. Bertherat, 2013, American journal of human genetics.

Genotype-phenotype correlation in hereditary multiple exostoses

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 2001, Journal of medical genetics.

Facial anomalies in D-2-hydroxyglutaric aciduria.

A. Munnich, S. Lyonnet, D. Rabier, 1999, American journal of medical genetics.

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Cécile Chevrier, C. Perret, M. Vazquez, 2008, American journal of medical genetics. Part A.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

N. Prescott, P. Scambler, C. Roberts, 2003, Nature Genetics.

Fraser syndrome with renal agenesis in two consanguineous Turkish families.

P. Lefrançois, C. Francannet, P. Dechelotte, 1990, American journal of medical genetics.

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

C. Francannet, A. Tchirkov, P. Vago, 2018, Reproductive biomedicine online.

Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: indication of gene localization

J. Opitz, C. Sultan, C. Francannet, 1986 .

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

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.

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.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical 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.

Prenatal diagnosis of the VACTERL association using routine ultrasound examination.

C. Francannet, D. Gallot, P. Dechelotte, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

P. Blanc, C. Francannet, P. Vago, 2008, American journal of medical genetics. Part A.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

A. Fischer, J. Soulier, P. Revy, 2013, Human mutation.

J. Gécz, A. Epanchintsev, C. Skinner, 2017, Human molecular genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex

C. Sarret, C. Francannet, F. Marguet, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.

O. Boespflug-Tanguy, C. Francannet, A. Geneix, 2005, Morphologie : bulletin de l'Association des anatomistes.

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.

Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome

V. Sapin, A. Labbé, C. Francannet, 2009, Prenatal diagnosis.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, American journal of human genetics.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

C. Francannet, A. Tchirkov, P. Vago, 2013, European Journal of Human Genetics.

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.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

C. Francannet, D. Gallot, F. Laffargue, 2015, American journal of medical genetics. Part A.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region

A. Toutain, C. Moraine, C. Francannet, 1997, 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.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

J. Thevenon, L. Faivre, S. Blesson, 2022, European Journal of Human Genetics.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

J. Melki, S. Julia, P. Jouk, 2018, European Journal of Human Genetics.

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

D. Lémery, C. Francannet, B. Doray, 2017, Birth defects research.

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

C. Francannet, A. Tchirkov, P. Vago, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

A. Beaufrère, C. Francannet, D. Gallot, 2013, Birth defects research. Part A, Clinical and molecular teratology.

The Epidemiology of Cardiovascular Defects, Part I: A Study Based on Data from Three Large Registries of Congenital Malformations

P. Pradat, C. Francannet, J. Harris, 2003, Pediatric Cardiology.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Julie Bianchi, A. Roux, C. Vaché, 2021, European Journal of Human Genetics.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

M. Koenig, Julie Bianchi, A. Roux, 2021, European Journal of Human Genetics.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

TP63 gene mutation in ADULT syndrome

A. Munnich, T. Frebourg, S. Lyonnet, 2001, European Journal of Human Genetics.

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

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

Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: an evaluation of the contribution of child and maternal genotypes.

C. Perret, C. Chevrier, S. Cordier, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype

A. Beaufrère, C. Francannet, P. Dechelotte, 2005, Prenatal diagnosis.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

[Epidemiological study of intestinal atresias: central-eastern France Registry 1976-1992].

C. Francannet, E. Robert, 1996, Journal de gynecologie, obstetrique et biologie de la reproduction.

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.

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.

Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts

C. Perret, R. Finnell, C. Chevrier, 2007, American journal of medical genetics. Part A.

Occupational exposure to organic solvent mixtures during pregnancy and the risk of non-syndromic oral clefts

C. Chevrier, S. Cordier, B. Dananché, 2006, Occupational and Environmental Medicine.

Fetal and Maternal MTHFR C677T Genotypes, Maternal Folate Intake and Oral Cleft Risk

C. Perret, C. Chevrier, S. Cordier, 2006 .

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

M. Raynaud, C. Francannet, N. Ronce, 1998, American journal of medical genetics.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome

C. Francannet, A. Tchirkov, P. Vago, 2013, American journal of medical genetics. Part A.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

O. Boespflug-Tanguy, S. Krupenko, C. Sarret, 2019, npj Genomic Medicine.

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

O. Boespflug-Tanguy, S. Krupenko, C. Sarret, 2019, NPJ genomic medicine.

The epidemiology of three serious cardiac defects a joint study between five centres

C. Stoll, G. Cocchi, P. Pradat, 1993, European Journal of Epidemiology.

Insertion réciproque 14;22 à l’origine de fausses couches à répétition

C. Francannet, P. Vago, C. Pébrel-Richard, 2018, Morphologie.

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

L. Ouchchane, J. Lusson, A. Beaufrère, 2016, Birth defects research. Part A, Clinical and molecular teratology.

A new mutation that predicted a drastic alteration of the BTK protein function.

C. Francannet, C. Paillard, A. Debost-Legrand, 2013, Gene.

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.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

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.

Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome.

C. Francannet, D. Gallot, P. Dechelotte, 2003, Genetic counseling.

Johanson-Blizzard syndrome. a new case with autopsy findings.

C. Francannet, P. Dechelotte, P. Vanlieferinghen, 2001, Genetic counseling.

[International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). An example of effective international cooperation].

C. Francannet, E. Robert, J. Robert, 1986, Archives francaises de pediatrie.

P04.26: Evolution of antenatal detection and outcome in congenital diaphragmatic hernia (CDH): an 18 year French registry‐based evaluation

J. Deprest, V. Sapin, C. Francannet, 2005 .

Rare ACTG1 variants in fetal microlissencephaly.

C. Fallet-Bianco, A. Laquérriere, A. Boland, 2015, European journal of medical genetics.

Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region

C. Francannet, A. Tchirkov, P. Vago, 2008, American journal of medical genetics. Part A.

[Periconceptional folates and the prevention of orofacial clefts: role of dietary intakes in France].

C. Monfort, S. Cordier, C. Francannet, 2005, Revue d'epidemiologie et de sante publique.

Neural tube defects and maternal weight reduction in early pregnancy.

G. Shaw, C. Francannet, E. Robert, 1994, Reproductive toxicology.

Discovering the ANK2‐related autism phenotype

S. Lumbroso, C. Francannet, A. Polge, 2023, Clinical genetics.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

H. Dollfus, J. Amiel, C. Francannet, 2023, Human Mutation.

[Macrocephaly-capillary malformation. A neonatal case].

C. Francannet, A. Delabaere, K. Coste, 2012, Archives de pédiatrie.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2018, American journal of medical genetics. Part A.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

V. Cormier-Daire, C. Francannet, C. Huber, 2023, Journal of medical genetics.

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

G. Jondeau, L. Gouya, C. Boileau, 2021, Genetics in Medicine.

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

C. Perret, M. Vazquez, C. Chevrier, 2008, American journal of medical genetics. Part A.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

C. Francannet, A. Tchirkov, P. Vago, 2018, Reproductive biomedicine online.

Growth charts in DYRK1A syndrome

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