Y. Sznajer

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A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease

R. Touraine, F. Meire, Y. Sznajer, 2008, American journal of medical genetics. Part A.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

V. Racé, P. Steenhaut, P. Bernard, 2019, European journal of obstetrics, gynecology, and reproductive biology.

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

G. Matthijs, D. Garozzo, H. Souayah, 2012, JIMD Reports.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

T. de Ravel, K. Devriendt, R. Sciot, 2009, Genes, chromosomes & cancer.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of

H. Cavé, A. Verloes, C. Baumann, 2013 .

The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

H. Cavé, A. Verloes, C. Baumann, 2007, Pediatrics.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

K. Devriendt, B. Menten, J. Vermeesch, 2021, Genetics in Medicine.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

Airway eicosanoids in acute severe respiratory syncytial virus bronchiolitis.

S. Wenzel, J. Westcott, B. Mazer, 2004, The Journal of pediatrics.

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

W. Friedrich, C. Doglioni, E. Gambineri, 2008, The Journal of allergy and clinical immunology.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

C. Saris, B. V. van Engelen, D. Barge-Schaapveld, 2019, Journal of neuromuscular diseases.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

T. de Ravel, K. Devriendt, B. Menten, 2014, European journal of medical genetics.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

N. Lévy, D. Amor, V. Cormier-Daire, 2013, European Journal of Human Genetics.

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

A. Verloes, D. Lacombe, C. Baumann, 2003, European Journal of Pediatrics.

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio‐Oculo‐Facial syndrome: Previously reported patient

S. Lyonnet, C. Baumann, Y. Sznajer, 2010, American journal of medical genetics. Part A.

‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

P. Kollmann, A. Peeters, Y. Sznajer, 2016, Journal of Neurology.

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

B. Dan, N. Deconinck, M. Vanier, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

M. Lek, D. Macarthur, R. Wevers, 2016, Neuromuscular Disorders.

Patient with confirmed LEOPARD syndrome developing multiple melanoma

G. Matthijs, I. Tromme, Y. Sznajer, 2018, Dermatology practical & conceptual.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

H. Cavé, A. Aeby, P. Bogaert, 2007, Journal of Inherited Metabolic Disease.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

P. Nitschké, N. Deggouj, A. David, 2017, Human mutation.

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

G. Eckstein, R. Betz, T. Ruzicka, 2016, Acta dermato-venereologica.

Iris heterochromia: A variable feature in Verloes–Koulischer‐oral‐acral syndrome

K. Devriendt, J. Fryns, I. B. Mathijssen, 2005, American journal of medical genetics. Part A.

Antenatal diagnosis of CHARGE syndrome: prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

P. Bernard, V. Benoit, P. Baldin, 2021, European journal of medical genetics.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

K. Schwarz, T. Giese, R. Lifton, 2017, The Journal of clinical investigation.

Clinical utility gene card for: poikiloderma with neutropenia

E. Colombo, L. Larizza, Y. Sznajer, 2013, European Journal of Human Genetics.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

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

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

P. Steenhaut, P. Bernard, A. Beleza-Meireles, 2017, European journal of medical genetics.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

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.

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

E. Haan, Y. Gillerot, M. Vikkula, 2009, The Journal of pediatrics.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

G Mortier, G. Mortier, H. Cavé, 2004, Journal of Medical Genetics.

Additional clinical and molecular analyses of TFAP2A in patients with the branchio‐oculo‐facial syndrome

S. Lyonnet, C. Baumann, Y. Sznajer, 2010, American journal of medical genetics. Part A.

Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

K. Devriendt, B. Menten, J. Vermeesch, 2020, Prenatal diagnosis.

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

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

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm

P. Bernard, Y. Sznajer, M. Laterre, 2018, Prenatal diagnosis.

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias

A. Verloes, J. Lombet, L. Collignon, 2004, Clinical dysmorphology.

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.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

O. Mäkitie, A. Warren, T. Cho, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.

S. van Vooren, Y. Moreau, K. Devriendt, 2007, Genetic counseling.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability

A. Verloes, S. Lyonnet, C. Baumann, 2007, Clinical genetics.

Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion

Y. Sznajer, J. Biard, A. Duquenne, 2021, Clinical case reports.

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

C. Le Caignec, O. Pichon, A. David, 2013, European journal of medical genetics.

Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

K. Stouffs, Y. Sznajer, P. Clapuyt, 2020, European journal of medical genetics.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

C. Wijmenga, G. Gimelli, M. van der Burg, 2011, American journal of human genetics.

Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p)

A. Verloes, D. Geneviève, D. Sanlaville, 2003, American Journal of Medical Genetics. Part A.

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

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

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

M. Abramowicz, F. Meire, J. Désir, 2010, European Journal of Human Genetics.

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Yves Sznajer, Ana Rita, V. Tasic, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports

M. Vazquez, A. Picard, T. D. de Villemeur, 2012, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

K. Devriendt, B. Menten, J. Vermeesch, 2018, Prenatal diagnosis.

Defining a Centiloid scale threshold predicting long-term progression to dementia in patients attending the memory clinic: an [18F] flutemetamol amyloid PET study

R. Lhommel, A. Ivanoiu, G. Farrar, 2020, European Journal of Nuclear Medicine and Molecular Imaging.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

C. Dangoisse, L. Larizza, Y. Sznajer, 2008, European Journal of Pediatrics.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

D. Lambrechts, K. Devriendt, J. Vermeesch, 2015, American journal of medical genetics. Part A.

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

D. Baralle, S. Mansour, K. Lachlan, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.

Y. Sznajer, M. Nassogne, D. Dumitriu, 2022, European journal of medical genetics.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

N. Deggouj, Y. Sznajer, M. Nassogne, 2018, International journal of pediatric otorhinolaryngology.

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

K. Devriendt, J. Vermeesch, J. Gatot, 2021, Obstetrics and gynecology.

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

E. Marbaix, D. Maiter, Y. Sznajer, 2018, Hormone Research in Paediatrics.

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

L. Thomas, M. Nellist, J. Sampson, 2023, Human Mutation.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

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.

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1

B. Emanuel, Y. Sznajer, N. Revencu, 2014, American journal of medical genetics. Part A.