H. Esch

发表

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

MECP 2 Duplication Syndrome

H. Esch, 2012 .

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

N. Boddaert, J. Chelly, B. Girard, 2010, neurogenetics.

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing

K. Devriendt, J. Vermeesch, M. Hestand, 2017, Human mutation.

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

K. Devriendt, J. Vermeesch, B. Ceulemans, 2009, European Journal of Human Genetics.

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

K. Devriendt, J. Chelly, H. Esch, 2004, Clinical genetics.

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

J. Gécz, P. Marynen, H. Ropers, 2007, Human Genetics.

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

K. Devriendt, J. Vermeesch, J. Deprest, 2014, European Journal of Human Genetics.

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

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

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

J. Gécz, Wei Chen, R. Reinhardt, 2011, European Journal of Human Genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Human Brain Models of Intellectual Disability: Experimental Advances and Novelties

H. Esch, Nona Laura Lisa Merckx, 2022, International journal of molecular sciences.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

H. Peeters, K. Devriendt, J. Vermeesch, 2015, European Journal of Human Genetics.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

A. Munnich, N. Boddaert, H. Esch, 2012, European Journal of Human Genetics.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

MECP2 Duplication Syndrome.

H. Esch, 2011 .

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

H. Peeters, J. Vermeesch, T. Kleefstra, 2011, European Journal of Human Genetics.

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

K. Õunap, H. Esch, M. Raynaud, 2014, Human mutation.

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Gabrielle M. Christenhusz, K. Devriendt, B. Menten, 2013, Genetics in Medicine.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

N. Boddaert, C. Elie, J. Chelly, 2008, Neurogenetics.

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

J. Gécz, P. Marynen, S. Lenzner, 2008, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient

R. Hennekam, A. Mégarbané, G. Turner, 2006 .

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Martin, J. Shendure, Martin Kircher, 2016, JCI insight.

GATA3 haplo-insufficiency causes human HDR syndrome

Rajesh V. Thakker, Koenraad Devriendt, Simone Schuffenhauer, 2000, Nature.

Transcription factor GATA 3 and the human HDR syndrome

K. Devriendt, H. Esch, 2022 .

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions

Gabrielle M. Christenhusz, K. Devriendt, H. Esch, 2014, Medicine, Health Care and Philosophy.

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

J. Vermeesch, A. Afenjar, M. Hestand, 2016, Human mutation.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Dysmorphology: Syndromes

H. Esch, M. Theunis, 2022, eLS.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental

P. Marynen, R. Stevenson, C. Schwartz, 2008 .

The Fragile X premutation: new insights and clinical consequences.

H. Esch, 2006 .

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

H. Ropers, J. Fryns, J. Chelly, 2010, neurogenetics.

Partial duplications of the ATRX gene cause the ATR-X syndrome

K. Devriendt, J. Vermeesch, B. Thienpont, 2007, European Journal of Human Genetics.

Identification of intellectual disability genes in female patients with skewed X-inactivation

S. Seneca, P. Marynen, K. Devriendt, 2015 .

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality

V. Kalscheuer, H. Esch, Linzhao Cheng, 2014, Human mutation.

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

K. Devriendt, J. Fryns, J. Chelly, 2005 .

BMPR 1 A is a candidate gene for congenital heart defects associated with the recurrent 10 q 22 q 23 deletion syndrome

Y. Moreau, L. Tranchevent, K. Devriendt, 2012 .

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

R. Dom, J. Fryns, G. Matthijs, 2005, European Journal of Human Genetics.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

K. Devriendt, J. Vermeesch, H. Van Esch, 2010, Cytogenetic and Genome Research.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

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

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Clinical implementation of NIPT – technical and biological challenges

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

K. Devriendt, H. Van Esch, W. V. D. Van de Ven, 1999, Genetic counseling.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

B. D. de Vries, H. Brunner, H. Van Esch, 2005, Journal of Medical Genetics.

GATA3 and kidney development: why case reports are still important.

R. Bilous, H. Van Esch, H. Esch, 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The communication of secondary variants: interviews with parents whose children have undergone array‐CGH testing

Gabrielle M. Christenhusz, H. Peeters, K. Devriendt, 2014, Clinical genetics.

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

T. de Ravel, K. Devriendt, J. Vermeesch, 2012, European journal of medical genetics.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Abstract P6-08-03: Germline mutational landscape in 5422 individuals at risk for hereditary breast and ovarian cancer who underwent multi-gene panel testing

H. Peeters, P. Neven, C. Desmedt, 2020 .

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Detection and validation of copy number variation in X-linked mental retardation

P. Marynen, H. Van Esch, H. Esch, 2009, Cytogenetic and Genome Research.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Refining the phenotype associated with MEF2C haploinsufficiency

E. Ortibus, H. Van Esch, R. Giorda, 2010, Clinical genetics.

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

K. Devriendt, H. Van Esch, J. Fryns, 1999, American journal of human genetics.

Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome

K. Devriendt, H. Van Esch, H. Esch, 2001, Cellular and Molecular Life Sciences CMLS.

Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

A. Munnich, N. Philip, H. Van Esch, 2006, Clinical genetics.