I. Maystadt

发表

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

M. Digilio, B. Grisart, B. Dallapiccola, 2012, American journal of human genetics.

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

V. Benoit, I. Maystadt, M. Cassart, 2019, Clinical case reports.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical genetics.

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

E. Colin, D. Bonneau, A. Ziegler, 2018, European journal of medical genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

H. Pendeville, D. Lederer, V. Benoit, 2016, American journal of medical genetics. Part A.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance

R. Wintjens, V. Benoit, I. Maystadt, 2022, Frontiers in Endocrinology.

Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants

H. Pendeville, L. Faivre, C. Philippe, 2021, Human mutation.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

A. Munnich, J. Melki, L. Viollet, 2004, Human mutation.

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.

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.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

DYRK1A mutations in two unrelated patients.

C. Depienne, D. Lederer, V. Benoit, 2015, European journal of medical genetics.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

J. Rosenfeld, B. V. van Bon, B. D. de Vries, 2021, Genes.

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

V. Benoit, I. Maystadt, M. Deprez, 2014, European journal of medical genetics.

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

N. Voermans, E. Kamsteeg, D. Lederer, 2017, Genetics in Medicine.

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

G. Garraux, G. Lenaers, B. Wagner, 2022, Frontiers in Neurology.

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.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

A. Destrée, D. Lederer, I. Maystadt, 2016, European journal of medical genetics.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

H. Sticht, C. Zweier, Antje Wiesener, 2022, Clinical genetics.

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

E. Colombo, I. Maystadt, L. Larizza, 2018, International journal of molecular sciences.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

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

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Bo Chen, Piotr Dittwald, Erwin Brosens, 2013, Genome research.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

D. Lederer, V. Benoit, I. Maystadt, 2018, Clinical case reports.

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

B. Grisart, I. Maystadt, Urielle Ullmann, 2016, Clinical case reports.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

M. Shaw, J. Gécz, A. Reis, 2016, Journal of Medical Genetics.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

B. V. van Bon, M. Fichera, B. D. de Vries, 2009, European journal of medical genetics.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease

S. Petri, E. Füchtbauer, A. Füchtbauer, 2017, Nature Communications.

A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

D. Lederer, V. Benoit, I. Maystadt, 2014, American journal of medical genetics. Part A.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

A. Munnich, P. Vannuffel, L. Viollet, 2007, American journal of human genetics.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

S. Küry, A. Boland, J. Deleuze, 2022, American journal of human genetics.

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

P. Vannuffel, A. Destrée, I. Maystadt, 2010, Molecular genetics and metabolism.

A second case of Okamoto syndrome caused by HNRNPK mutation

V. Benoit, I. Maystadt, M. Deprez, 2020, American journal of medical genetics. Part A.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

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

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

S. Robertson, P. Tarpey, C. Skinner, 2022, European Journal of Human Genetics.

Uncommon Leber “Plus” Disease Associated With Mitochondrial Mutation m.11778G>A in a Premature Child

V. Benoit, I. Maystadt, F. Meire, 2014, Journal of child neurology.

Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex

Y. Crow, M. Zamani, G. Rice, 2023, Journal of Clinical Immunology.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

B. Grisart, A. Destrée, I. Maystadt, 2011, European journal of medical genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

A. Munnich, F. Renault, S. Lefebvre, 2006, Neurology.

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

K. Devriendt, G. Mortier, H. Van Esch, 2021, Molecular genetics & genomic medicine.

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.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

H. Stewart, I. Maystadt, S. Joss, 2023, 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.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family

A. Hanauer, A. Aeby, D. Lederer, 2014, Clinical genetics.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

B. V. van Bon, L. Vissers, R. Pfundt, 2024, American journal of human genetics.

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

P. Bovolenta, V. Tiranti, M. Zeviani, 2012 .