L. Van Maldergem

P. Beighton, Y. Gillerot, N. Elçioglu, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic Update on Auditory Neuropathy

P. Deltenre, F. Denoyelle, M. Louha, 2011, Audiology and Neurotology Extra.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Cerebral Venous Thrombosis and Procoagulant Factors

G. Marécaux, L. Van Maldergem, C. Delcour, 1998, Angiology.

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.

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

C. Cremers, F. Cremers, F. Wuyts, 2001, Journal of medical genetics.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

Osteogenesis imperfecta Phenotypes Resulting from Serine for Glycine Substitutions in the α2(I) Collagen Chain

A. De Paepe, L. Nuytinck, G. Fabry, 1997, European journal of human genetics : EJHG.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

N. Drouot, J. Mandel, B. Gilbert-Dussardier, 2022, bioRxiv.

Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.

J. Brotchi, J. Lechien, L. Van Maldergem, 2014, Neuro-Chirurgie.

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

G. Mortier, B. Menten, A. Verloes, 2010, American journal of medical genetics. Part A.

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

C. Danesino, A. Guala, L. Van Maldergem, 2013, Clinical dysmorphology.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

I. Verma, C. Baumann, M. Goossens, 2002, Human Genetics.

Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation.

P. Deltenre, L. Van Maldergem, 2013, Handbook of clinical neurology.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

Y. Gillerot, R. Wanders, J. J. Martin, 2000, European Journal of Pediatrics.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

M. Koenig, V. Bours, U. Kornak, 2018, Molecular genetics and metabolism.

Camurati-Engelmann Disease : review of the clinical , radiological and molecular data of 24 families and implications towards diagnostics and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005 .

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

R. Gershoni-baruch, S. Ralston, K. Janssens, 2000, Journal of medical genetics.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

R. Silverman, S. Bale, J. Uitto, 2001, The Journal of investigative dermatology.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

N. Brunetti‐Pierri, J. Mulliken, R. Pauli, 2013, American journal of medical genetics. Part A.

Human liver pathology in peroxisomal diseases: a review including novel data.

H. Mandel, J. Saudubray, F. Roels, 1993, Biochimie.

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

L. Ala‐Kokko, J. Bonaventure, D. Prockop, 1995, The Biochemical journal.

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Rivka L. Glaser, E. Jabs, A. Wilkie, 2000, American journal of human genetics.

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

H. Mandel, B. Poll-The, J. Smeitink, 1995, European journal of cell biology.

Hepatic ultrastructure in congenital total lipodystrophy with special reference to peroxisomes.

F. Roels, L. Van Maldergem, D. de Craemer, 1992, Ultrastructural pathology.

Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney.

G. Dacremont, R. Wanders, T. Hashimoto, 1991, Virchows Archiv. A, Pathological anatomy and histopathology.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

F. Aubin, E. Girodon, T. Bienvenu, 2016, Acta dermato-venereologica.

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

P. Koivisto, M. Delatycki, S. Vermeer, 2009, Human mutation.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

K. Devriendt, J. Vermeesch, P. Sienaert, 2016, European journal of medical genetics.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

S. Bhattacharya, A. Hardcastle, D. Thiselton, 1996, Genome research.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

G. Conway, K. McElreavey, S. Nef, 2019, Genetics in Medicine.

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

J. Sundberg, A. Christiano, D. Warburton, 2008, Human molecular genetics.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

K. McElreavey, N. Mottet, C. Cabrol, 2019, European journal of medical genetics.

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

S. Walitza, E. Grünblatt, R. Bruggmann, 2014, Molecular Autism.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Josemir W Sander, C. Walsh, P. Striano, 2006, Brain : a journal of neurology.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

S. Mundlos, M. Spielmann, M. Holtgrewe, 2021, Human Genetics.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

The Baller-Gerold syndrome.

Y. Gillerot, A. Verloes, L. Lejeune, 1992, Journal of medical genetics.

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Janel O. Johnson, A. Singleton, J. R. Gibbs, 2010, American journal of human genetics.

Identification of three novel SEDL mutations, including mutation in the rare, non‐canonical splice site of exon 4

M. Shaw, J. Gécz, N. Brunetti‐Pierri, 2003, Clinical genetics.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

E. Jabs, Y. Gillerot, E. Chouery, 2005, Journal of Medical Genetics.

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.

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

R Berger, M. Durán, M. Pineda, 2000, American journal of human genetics.

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

W. Wuyts, W. Van Hul, L. Van Maldergem, 2002, American journal of medical genetics.

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

A. Munnich, S. Lyonnet, M. le Merrer, 1992, Journal of medical genetics.

Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor

B. Ebert, M. Słabicki, A. Meissner, 2021, Cancer discovery.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

B. Rodríguez-Herreros, D. Romascano, B. Isidor, 2021, Molecular Autism.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15.

B. Dan, S. Boyd, A. Kahn, 2000, Neuropediatrics.

Lethal femoral-facial syndrome: a case with unusual manifestations.

Y. Gillerot, L. Van Maldergem, C. Fourneau, 1997, Journal of medical genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Paul Coucke, Bart Loeys, Geert Mortier, 2002, Human molecular genetics.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

L. Tosca, G. Tachdjian, M. Goossens, 2021, Molecular genetics & genomic medicine.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

C. V. van Ravenswaaij-Arts, A. Verloes, L. Faivre, 2020, Clinical genetics.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

S. Mundlos, M. Spielmann, F. Escande, 2019, European journal of medical 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.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

F. Santos-Simarro, A. Garg, F. Collins, 2016, Clinical genetics.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2

P. Jonveaux, K. McElreavey, V. Rozé, 2014, American journal of medical genetics. Part A.

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

J. Gécz, B. Lorenz, J. Craig, 2008, Molecular vision.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

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

Genetic causes of hydrops fetalis.

Y. Gillerot, E. Jauniaux, L. Van Maldergem, 1992, Pediatrics.

Oral-facial-digital syndrome type I in a newborn male.

Y. Gillerot, L. Van Maldergem, C. Fourneau, 1993, American journal of medical genetics.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

N. de Leeuw, E. Sistermans, E. Peeters, 2008, Clinical genetics.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

J. Seidman, M. Bamshad, L. Jorde, 1999, American journal of human genetics.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

E. Bertini, K. Bushby, F. Muntoni, 2003, Annals of neurology.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

A. Verloes, F. Meire, H. Journel, 1993, American journal of medical genetics.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

S. Mundlos, U. Kornak, P. Stanier, 2018, American journal of medical genetics. Part A.

Association of cleft palate with Sprengel anomaly: confirmation of the Hodgson-Chiu syndrome.

A. Monier, L. Maldergem, L. Van Maldergem, 2000, American journal of medical genetics.

Prenatal ultrasound detection of congenital cataract in trisomy 21

C. Dugauquier, L. Van Maldergem, J. Awoust, 1999, Prenatal diagnosis.

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.

Y. Gillerot, A. Verloes, F. Avni, 1991, Genetic Counseling.

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

A. Bird, M. Jay, S. Bhattacharya, 1999, American journal of human genetics.

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

W. Carré, L. Pasquier, L. Faivre, 2020, Clinical genetics.

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.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients

U. Kornak, L. Van Maldergem, N. Kalis, 2014, American journal of medical genetics. Part A.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

R. Bouillon, P. Malloy, D. Feldman, 1997, The Journal of clinical investigation.

Brachymorphism-onychodysplasia-dysphalangism syndrome.

L. Koulischer, A. Verloes, D. Bonneau, 1993, Journal of medical genetics.

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

Robert W. Taylor, G. Stevanin, P. Bonnen, 2016, Annals of clinical and translational neurology.

Arterial tortuosity syndrome: case report.

P. Coucke, L. Maldergem, L. Van Maldergem, 2012, Genetic counseling.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

S. Dimauro, Y. Gillerot, Jean-Jacques Martin, 2002, Annals of neurology.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

E. Colombo, D. Gentilini, L. Larizza, 2019, Front. Pediatr..

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic brain disease.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

M. Benninga, J. Rotteveel, M. S. van der Knaap, 2015, European Journal of Pediatrics.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, Paul Roschger, Klaus Klaushofer, 2017, American journal of human genetics.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.

E. Jabs, M. Passos-Bueno, L. Van Maldergem, 2002, American journal of medical genetics.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Prevalence of mutations in AGPAT2 among human lipodystrophies.

M. Lathrop, P. Czernichow, C. Vigouroux, 2003, Diabetes.

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia.

G. Oǧur, L. Van Maldergem, M. Yüksel, 1989, American journal of medical genetics.

Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

Y. Gillerot, L. Koulischer, A. Verloes, 1992, American journal of medical genetics.

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1‐related condition

F. Alkuraya, L. Van Maldergem, F. Nobili, 2020, Clinical genetics.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

T. de Ravel, M. Abramowicz, S. Janssens, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

W. van Paesschen, K. Heimdal, Y. Gillerot, 2007, Human genetics.

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.

I. Liebaers, G. Vandevelde, L. Van Maldergem, 1988, American journal of medical genetics.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

D. Hoffman, P. Worley, C. Skinner, 2018, Human molecular genetics.

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.

F. Debray, L. Van Maldergem, Christel Baguette, 2013, Molecular genetics and metabolism.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

B. Fríguls, G. Pintos-Morell, L. Van Maldergem, 2009, European Journal of Medical Genetics.

D. Lacombe, C. Cabrol, A. Goldenberg, 2018, Clinical genetics.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005, Journal of Medical Genetics.

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Y. Gillerot, L. Koulischer, L. Van Maldergem, 1991, Journal of medical genetics.

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

A. Verloes, J. Dufier, L. Van Maldergem, 1990, Journal of medical genetics.

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.

Morphological features of a case of retinoic acid embryopathy

Y. Gillerot, E. Jauniaux, L. Van Maldergem, 1992, Prenatal Diagnosis.

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

K. Heimdal, K. Prescott, F. Sciurba, 2013 .

Living‐donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow‐up

R. Wanders, E. Sokal, S. Varma, 2018, Pediatric transplantation.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients

U. Kornak, L. Van Maldergem, N. Kalis, 2014, American journal of medical genetics. Part A.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, B. Venkatesh, H. Kayserili, 2017, American journal of human genetics.

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

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.