A. Vitobello

发表

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.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European journal of human genetics : EJHG.

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

C. Philippe, M. Cataldi, H. Maurey, 2019, Epilepsia open.

Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotion

K. Kapur, C. Wolf, C. Wolf, 2019, Life Science Alliance.

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

L. Faivre, Quentin Thomas, C. Philippe, 2022, The Pharmacogenomics Journal.

Hox and Pbx factors control retinoic acid synthesis during hindbrain segmentation.

L. Selleri, E. Ferretti, S. Ducret, 2011, Developmental cell.

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

C. Lejeune, R. Boidot, J. Thevenon, 2019, European journal of medical genetics.

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

J. Thevenon, L. Faivre, C. Philippe, 2022, Annals of human genetics.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

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.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Communications.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

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.

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.

Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism.

Vezzoli, P. Scheiffele, C. Philippe, 2022, medRxiv.

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

A. Verloes, L. Faivre, C. Philippe, 2022, European Journal of Human Genetics.

Ezh2 Orchestrates Topographic Migration and Connectivity of Mouse Precerebellar Neurons

Antoine H. F. M. Peters, Claudius F. Kratochwil, B. Roska, 2013, Science.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, 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.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

C. Bris, V. Procaccio, L. Faivre, 2019, Human mutation.

Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors.

P. Couttet, D. Theil, J. Thomson, 2014, Toxicological sciences : an official journal of the Society of Toxicology.

MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis.

V. Salsi, V. Zappavigna, F. Rijli, 2015, Biochimica et biophysica acta.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

F. Lecoquierre, L. Faivre, C. Philippe, 2019, Genetics in Medicine.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

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

Gene bivalency at Polycomb domains regulates cranial neural crest positional identity

Michael B. Stadler, H. Kohler, F. Rijli, 2017, Science.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

Noggin Elicits Retinal Fate in Xenopus Animal Cap Embryonic Stem Cells

G. Demontis, S. Casarosa, F. Cremisi, 2009, Stem cells.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

P. Fergelot, M. Tartaglia, G. Merla, 2022, International journal of molecular sciences.

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.

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Molecular genetics & genomic medicine.

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Patrick Callier, Antonio Vitobello, Yannis Duffourd, 2020, Molecular genetics & genomic medicine.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

S. Scherer, J. Howe, B. Doble, 2022, bioRxiv.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European Journal of Human Genetics.

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.

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

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

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.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

L. Vissers, R. Pfundt, O. Devinsky, 2021, medRxiv.

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

Alison M. Male, J. Baptista, K. Gripp, 2021, Cell reports.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Progress in identifying epigenetic mechanisms of xenobiotic-induced non-genotoxic carcinogenesis

J. M. Thomson, R. Meehan, C. Wolf, 2017 .

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human 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.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Patrick Callier, Ange-Line Bruel, Antonio Vitobello, 2020, Clinical genetics.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

R. Pfundt, B. D. de Vries, C. Gilissen, 2021, European Journal of Medical Genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

W. Chung, L. Faivre, Keri E. Ramsey, 2019, Cold Spring Harbor molecular case studies.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

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.

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.

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

J. Thevenon, L. Faivre, C. Philippe, 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.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

E. Krüger, S. Auvin, A. Verloes, 2019, Clinical 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.

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

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

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2018, Clinical genetics.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

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.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter

D. K. Brož, J. Ferralli, R. Chiquet‐Ehrismann, 2011, BMC Developmental Biology.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human 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.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Y. Béjot, M. Giroud, L. Faivre, 2021, Journal of the Neurological Sciences.

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

S. Julia, F. Lecoquierre, R. Abou Jamra, 2022, European Journal of Human Genetics.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Variants of human CLDN9 cause mild to profound hearing loss

T. Friedman, C. Philippe, C. Fenollar-Ferrer, 2021, Human mutation.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

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.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

R. Maroofian, H. Houlden, S. Miyatake, 2023, medRxiv.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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

Constitutive androstane receptor 1 is constitutively bound to chromatin and ‘primed’ for transactivation in hepatocytes

C. Wolf, M. McMahon, J. Moggs, 2018, Molecular Pharmacology.

Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates

K. Gripp, X. Wei, A. Innes, 2020 .

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

K. Dent, J. Thevenon, L. Faivre, 2020, American journal of medical genetics. Part A.

Xenobiotic CAR Activators Induce Dlk1-Dio3 Locus Noncoding RNA Expression in Mouse Liver

A. Zell, H. Ellinger-Ziegelbauer, M. Schwarz, 2017, Toxicological sciences : an official journal of the Society of Toxicology.

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.

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.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

J. Thevenon, S. Mercier, L. Faivre, 2023, Frontiers in Genetics.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

E. Colin, J. Thevenon, L. Faivre, 2023, Journal of medical genetics.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2022, American journal of medical genetics. Part A.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome

C. Philippe, A. Piton, Y. Duffourd, 2023, American journal of medical genetics. Part A.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors.

P. Couttet, D. Theil, H. Ellinger-Ziegelbauer, 2014, Toxicological sciences : an official journal of the Society of Toxicology.

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

K. Kosaki, T. Takenouchi, C. Quélin, 2023, HGG advances.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

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

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

C. Thauvin-Robinet, Y. Duffourd, F. T. Mau-Them, 2024, Prenatal Diagnosis.

Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases

J. Thevenon, L. Faivre, C. Philippe, 2019, American journal of medical genetics. Part A.

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

L. Vissers, R. Pfundt, C. Gilissen, 2023, European journal of human genetics : EJHG.