X‐Linked intellectual disability update 2022

A SOX3 duplication and lumbosacral spina bifida in three generations

(2022) Kameryn M. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

Current and Emerging Clinical Treatment in Mitochondrial Disease

(2021) Rory J. Tinker et al.   Molecular Diagnosis & Therapy

Long-term follow-up of Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2021) Pierre BOUGNERES et al.   HUMAN GENE THERAPY

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time

(2021) Ioannis A. Ziogas et al.   LIVER TRANSPLANTATION

Gene therapy using an ortholog of human fragile X mental retardation protein partially rescues behavioral abnormalities and EEG activity

(2021) Alexander W.M. Hooper et al.   Molecular Therapy-Methods & Clinical Development

Development of a Redox-Sensitive Spermine Prodrug for the Potential Treatment of Snyder Robinson Syndrome

(2021) Mukund P. Tantak et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

(2020) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

(2020) Daphné Lehalle et al.   JOURNAL OF MEDICAL GENETICS

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

(2020) Cristiane Benincá et al.   JOURNAL OF MEDICAL GENETICS

Schimke XLID syndrome results from a deletion in BCAP31

(2020) Raymond J. Louie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

(2020) Yu-Ri Lee et al.   Nature Communications

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

(2020) Toshimitsu Suzuki et al.   Annals of Clinical and Translational Neurology

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

(2020) Petar N Grozdanov et al.   NUCLEIC ACIDS RESEARCH

NAA10 polyadenylation signal variants cause syndromic microphthalmia

(2019) Jennifer J Johnston et al.   JOURNAL OF MEDICAL GENETICS

Pathogenic Variants in GPC4 Cause Keipert Syndrome

(2019) David J. Amor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

(2019) Hilde Van Esch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants in the transcriptional corepressor BCORL1 are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities

(2019) Anju Shukla et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

(2019) Hanyin Cheng et al.   HUMAN MOLECULAR GENETICS

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype

(2019) Bekim Sadikovic et al.   Epigenomics

Perspectives on urea cycle disorder management: Results of a clinician survey

(2019) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

SOX3 duplication: a genetic cause to investigate in fetuses with neural tube defects

(2019) Marguerite Hureaux et al.   PRENATAL DIAGNOSIS

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

(2019) Sarah K. Fiordaliso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

X‐linked intellectual disability: Phenotypic expression in carrier females

(2019) Catherine A. Ziats et al.   CLINICAL GENETICS

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

(2019) María Isabel Tejada et al.   Frontiers in Genetics

Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

(2019) Raymond J. Louie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked intellectual disability update 2017

(2018) Giovanni Neri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

(2018) Annemieke J. M. H. Verkerk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders

(2018) Chong Chen et al.   NEUROSCIENCE LETTERS

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

(2018) Leda Paganini et al.   CLINICAL GENETICS

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

(2018) Wujood Khayat et al.   HUMAN MOLECULAR GENETICS

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

(2018) Filippo Pinto e Vairo et al.   MOLECULAR GENETICS AND METABOLISM

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

(2017) John A. Damiano et al.   EPILEPSIA

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

(2017) Linda A Bradley et al.   GENETICS IN MEDICINE

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

(2017) Juliette Piard et al.   HUMAN MOLECULAR GENETICS

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

(2017) Daniela A Braun et al.   NATURE GENETICS

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

(2016) Korinna Kochinke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Delineation of theKIAA2022mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

(2015) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

(2015) Julien Thevenon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New insights into Brunner syndrome and potential for targeted therapy

(2015) E.E. Palmer et al.   CLINICAL GENETICS

IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

(2015) Raman Kumar et al.   HUMAN MOLECULAR GENETICS

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

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

(2015) Harsh V. Gupta et al.   PARKINSONISM & RELATED DISORDERS

Evidence for increasedSOX3dosage as a risk factor for X-linked hypopituitarism and neural tube defects

(2014) Marijke Bauters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

(2014) Mateusz Kolanczyk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

(2013) Pierre Cacciagli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

(2013) Scott E. Hickey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

(2012) Alessia Indrieri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Duplication ofOCRLand adjacent genes associated with autism but not Lowe syndrome

(2012) Richard J. Schroer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

(2012) SK Holman et al.   CLINICAL GENETICS

Preclinical research in Rett syndrome: setting the foundation for translational success

(2012) D. M. Katz et al.   Disease Models & Mechanisms

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

(2012) Jaime Vengoechea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

(2012) Sandesh C. S. Nagamani et al.   NEUROGENETICS

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

(2012) Marc Engelen et al.   Orphanet Journal of Rare Diseases

The male phenotype in osteopathia striata congenita with cranial sclerosis

(2011) Sarah K. Holman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region

(2010) Chantal Gendrot et al.   CLINICAL GENETICS

Familial laryngeal abductor paralysis and psychomotor retardation

(2010) Gordon V. Watters et al.   CLINICAL GENETICS

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

(2009) Marlène Rio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS