A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Clinical variation in Lowe syndrome: what and how?

Monogenic defects in Russian children with autism spectrum disorders.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Are NONO variants linked to congenital heart disease? Patient reports and review.

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

A family case of a rare Xq28 duplication.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and Genetic Insights From a Case Report.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

MCT8 Deficiency in Females.

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Globally Reduced Brain Volume in Rett Syndrome.

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report.

Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.

Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report.

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

A novel approach to metabolic profiling in case models of MECP2-related disorders.

Pain experience of children with Christianson syndrome.

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

ATRX silences Cartpt expression in osteoblastic cells during skeletal development.

Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function.

Endocrine disorders in Rett syndrome: a systematic review of the literature.

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Simpson-Golabi-Behmel syndrome.

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.

Case Report: Multiple types of arrhythmias in a late-confirmed Danon disease.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review.

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

A mouse model of ATRX deficiency with cognitive deficits and autistic traits.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.

Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.

Epigenetic Causes of Overgrowth Syndromes.

Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history.

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.

Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability.

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Focal Dermal Hypoplasia: Case Series.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Börjeson-Forssman-Lehmann syndrome: A case report.

A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2 deficient mouse brain.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

Comparison of evoked potentials across four related developmental encephalopathies.

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C.

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.

CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.

Genetic analysis of neurodevelopmental disorders in children.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

[Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome].

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion.

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.

FGD1 Variant Associated With Aarskog-Scott Syndrome.

[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia].

A novel UBE2A splice site variant causing intellectual disability type Nascimento.

SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

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

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Hedgehog pathway modulation by glypican 3-conjugated heparan sulfate.

Identification of a novel microdeletion causative of Nance-Horan syndrome.

X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome.

Oral Function and Feeding Management in a Child with Alpha Thalassemia X-Linked Intellectual Disability Syndrome.

Epilepsy and Sleep in the ATR-X Syndrome.

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Mechanisms of Genome Instability in the Fragile X-Related Disorders.

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Eye and ocular adnexa manifestations of MED12-related disorders.

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Novel hemizygous loss-of-function variant in NONO identified in a South African boy.

Loss of Christianson Syndrome Na+/H+ Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons.

ATR-X syndrome: genetics, clinical spectrum, and management.

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.

A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.

Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Rett syndrome: think outside the (skull) box.

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

CK syndrome: a rare cause of developmental delay in a young boy.

Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism.

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.

Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

[A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].

Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.