Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia
Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion
Therapy development in Huntington disease: From current strategies to emerging opportunities
Auditory evoked potentials in children and adolescents with Down syndrome
Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome
Clinical and genetic characterization of AP4B1-associated SPG47
Rare FMR1 gene mutations causing fragile X syndrome: A review
Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012
Novel STRA6 null mutations in the original family described with Matthew–Wood syndrome
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1
Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study
Response to: “In reply to: ‘Mast Cell Disorders in Ehlers–Danlos Syndrome’ (Jaime Vengoechea, Department of Human Genetics, Emory University)”
Discordant fetal phenotype of hypophosphatasia in two siblings
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis
Temple syndrome as a differential diagnosis to Prader–Willi syndrome: Identifying three new patients
FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas
Expanding the neurodevelopmental phenotype of PURA syndrome
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome
A model to characterize psychopathological features in adults with Prader-Willi syndrome
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family
Wieacker–Wolff syndrome with associated cleft palate in a female case
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients
Further delineation of the GDF6 related multiple synostoses syndrome
Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
Familial choreoathetosis due to novel heterozygous mutation in PDE10A
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines
Short rib syndrome Beemer–Langer type, a short history
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia
In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”
STAR syndrome plus: The first description of a female patient with the lethal form
Novel pregnancy-triggered episodes of CAPOS syndrome
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients
Defective ciliogenesis in INPP5E-related Joubert syndrome
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome
Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development
Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3
Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders
Corrigendum: Psychiatric and psychological aspects in the Ehlers–Danlos syndromes
De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus
A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies
Treating pediatric neuromuscular disorders: The future is now
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins
Peeling skin syndrome associated with novel variant in FLG2 gene
Two novel mutations in XYLT2 cause spondyloocular syndrome
Challenges of developing and conducting clinical trials in rare disorders
Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development
Severe connective tissue laxity including aortic dilatation in Sotos syndrome
Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
Novel FANCI mutations in Fanconi anemia with VACTERL association
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene
Craniosynostosis in 10q26 Deletion Patients: A Consequence of Brain Underdevelopment or Altered Suture Biology?
Corrigendum to “Congenital Microcephaly and Chorioretinopathy Due to De Novo Heterozygous KIF11 Mutations: Five Novel Mutations and Review of the Literature. Am J Med Genet Part A 2014 164A:2879–86”
“This Lifetime Commitment”: Public Conceptions of Disability and Noninvasive Prenatal Genetic Screening
Acromesomelic Dysplasia, Type Maroteaux Caused by Novel Loss-of-Function Mutations of the NPR2 Gene: Three Case Reports
Congenital Thrombocytopenia in a Neonate With an Interstitial Microdeletion of 3q26.2q26.31
Non-Invasive Prenatal Screening for Trisomy 21: Consumers' Perspectives
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability
Factors influencing uptake of familial long QT syndrome genetic testing
Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus
Russel–Silver syndrome: A historical note and comment on an older adult
Interactions between RAD51 rs1801321 and maternal cigarette smoking as risk factor for nonsyndromic cleft lip with or without cleft palate
Prenatal Findings in Cardio-Facio-Cutaneous Syndrome
The Categories of Cutaneous Mosaicism: A Proposed Classification
Hyperinsulinemic Hypoglycemia in a Patient With an Intragenic NSD1 Mutation
Elevation of Neuron Specific Enolase and Brain Iron Deposition on Susceptibility-Weighted Imaging as Diagnostic Clues for Beta-Propeller Protein-Associated Neurodegeneration in Early Childhood: Additional Case Report and Review of the Literature
The Neuromuscular Differential Diagnosis of Joint Hypermobility S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth, and N.C. Voermans Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23–42
All Enamel Is not Created Equal:Supports From a Novel FAM83H Mutation
Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival
Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997–2011
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta
Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals
Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors
Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1–23.3
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
Mosaic deletion of 20pter due to rescue by somatic recombination
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region
First fetal case of the 8q24.3 contiguous genes syndrome
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family
Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review
Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications
PDZD7 and Hearing Loss: More Than Just a Modifier
Recurrent Duplications of 17q12 Associated With Variable Phenotypes
Rare Genomic Rearrangement in a Boy With Williams–Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior
Work Participation in Adults With Marfan Syndrome: Demographic Characteristics, MFS Related Health Symptoms, Chronic Pain, and Fatigue
The Behavioral Characteristics of Sotos Syndrome
Large National Series of Patients With Xq28 Duplication Involving MECP2: Delineation of Brain MRI Abnormalities in 30 Affected Patients
Pathogenenic Variant in the COL2A1 Gene Is Associated With Spondyloepiphyseal Dysplasia Type Stanescu
A Familial Pericentric Inversion of Chromosome 11 Associated With a Microdeletion of 163kb and Microduplication of 288kb at 11P13 and 11q22.3 Without Aniridia or Eye Anomalies
A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency
Cleft Palate in a Patient With the Nested 22q11.2 Lcr C to D Deletion
Long-Term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-Year-Old Male With g.55G>a Homozygous Mutation in RNU4ATAC
Nosology and classification of genetic skeletal disorders: 2015 revision
Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/ PIGN -related epilepsy
Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy
Editorial comment on McPherson and Cold
Vici syndrome in siblings born to consanguineous parents
Hearing impairment and renal failure associated with RMND1 mutations
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops—Expanding the phenotype of IPEX syndrome
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
Duplication of 10q22.3–q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations
Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy
Fetal alcohol spectrum disorders: Clinical phenotype among a high-risk group of children and adolescents in Korea
Bohring–Opitz Syndrome (BOS) With a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the Syndrome
Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism
Report of a Patient With a Constitutional Missense Mutation in SMARCB1, Coffin–Siris Phenotype, and Schwannomatosis
Early-Onset Encephalopathy With Epilepsy Associated With a Novel Splice Site Mutation in SMC1A
Severe Congenital Neutropenia With Neurological Impairment Due to a Homozygous VPS45 P.E238K Mutation: A Case Report Suggesting a Genotype–Phenotype Correlation
Expanding the Phenotype of Feingold Syndrome-2
Paternal Duplication of the 11p15 Centromeric Imprinting Control Region Is Associated With Increased Expression of CDKN1C in a Child With Russell–Silver Syndrome
Xq21.31–q21.32 Duplication Underlies Intellectual Disability in a Large Family With Five Affected Males
Confirmation of Autosomal Recessive Inheritance of COL2A1 Mutations in Spondyloepiphyseal Dysplasia Congenita: Lessons for Genetic Counseling
A PIGN Mutation Responsible for Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome 1 (MCAHS1) in An Israeli–Arab Family
Somatic BRAF c.1799T>A p.V600E Mosaicism Syndrome Characterized by a Linear Syringocystadenoma Papilliferum, Anaplastic Astrocytoma, and Ocular Abnormalities
Quality of Life in Osteogenesis Imperfecta: A Mixed-Methods Systematic Review
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome—A Conglomeration of Different Genetic Entities?
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations
Minor anomalies in stillborn and second trimester miscarried fetuses
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1
Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability
Congenital Anomalies Associated With Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011
Association Between Kniest Dysplasia and Chondrosarcoma in a Child
Severe CNS Involvement in WWOX Mutations: Description of Five New Cases
Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype–phenotype correlation
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition
7q11.23 Duplication syndrome: Physical characteristics and natural history
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
Autism spectrum disorder in Prader–Willi syndrome: A systematic review
Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion
Thyroid nodules on chest CT of patients with tuberous sclerosis complex
Phosphoglucomutase-1 Deficiency: Intrafamilial Clinical Variability and Common Secondary Adrenal Insufficiency
Co-Occurrence of Hypertrophic Cardiomyopathy and Myeloproliferative Disorder in a Neonate With Noonan Syndrome Carrying Thr73Ile Mutation in PTPN11
De Novo 9q Gain in an Infant With Tetralogy of Fallot With Absent Pulmonary Valve: Patient Report and Review of Congenital Heart Disease in 9q Duplication Syndrome
NBAS Mutations Cause a Multisystem Disorder Involving Bone, Connective Tissue, Liver, Immune System, and Retina
Clinical and Genetic Characteristics of Craniosynostosis in Hungary
Chronic Pain in Noonan Syndrome: A Previously Unreported but Common Symptom
Homozygous Deletion of TRMT10A as Part of a Contiguous Gene Deletion in a Syndrome of Failure to Thrive, Delayed Puberty, Intellectual Disability and Diabetes Mellitus
Clinical and Molecular Characterization of Seven Egyptian Families With Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations
The Effect of Genetic Test-Based Risk Information on Behavioral Outcomes: A Critical Examination of Failed Trials and a Call to Action
Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder
Exome Analysis of a Family With Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus
Atypical Williams syndrome in an infant with complete atrioventricular canal defect
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion
Obstructive Sleep Apnea in Young Infants With Down Syndrome Evaluated in a Down Syndrome Specialty Clinic
Characterization of Human Disease Phenotypes Associated With Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Whole Arm Deletions of 18p: Medical and Developmental Effects
Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL)
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
Intragenic Rearrangements in X-Linked Intellectual Deficiency: Results of a-CGH in a Series of 54 Patients and Identification of TRPC5 and KLHL15 As Potential XLID Genes
Response to “De Novo Mutation of the TGFB3 Latency-Associated Peptide Domain in a Patient With Overgrowth and Loeys-Dietz Syndrome Features”
De Novo Microdeletion of BCL11A is Associated With Severe Speech Sound Disorder
Wide Spectrum of Congenital Anomalies Including Choanal Atresia, Malformed Extremities, and Brain and Spinal Malformations in a Girl with a De Novo 5.6-Mb Deletion of 13q12.11–13q12.13
Response to Li and Liu's “Darwin's Statements on Reversion or Atavism”
Nine Patients With Xp22.31 Microduplication, Cognitive Deficits, Seizures, and Talipes Anomalies
Refinement of the Deletion in 8q22.2–q22.3: The Minimum Deletion Size at 8q22.3 Related to Intellectual Disability and Epilepsy
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys–Dietz syndrome features
Barraquer–Simons syndrome: A rare clinical entity
Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice
Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome
Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency
Long term follow-up of four patients with Keutel syndrome
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family
Neural tube defects and atypical deletion on 22q11.2
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways
Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome
A novel variant in GABRB2 associated with intellectual disability and epilepsy
Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene
Further evidence of the importance of RIT1 in Noonan syndrome
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
Phenotypic Variability in Waardenburg Syndrome Resulting From a 22q12.3-q13.1 Microdeletion Involving SOX10
Expanding the Phenotypic Profile of Boys With 47, XXY: The Impact of Familial Learning Disabilities
Homozygous N540K Hypochondroplasia—First Report: Radiological and Clinical Features
An Excerpt From “The Boys, or Waiting for the Electrician's Daughter”
A Day in the Life
Blepharophimosis, Short Humeri, Developmental Delay and Hirschsprung Disease: Expanding the Phenotypic Spectrum of MED12 Mutations
Axenfeld-Rieger Syndrome: Further Clinical and Array Delineation of Four Unrelated Patients With a 4q25 Microdeletion
Genotype–Phenotype Correlation in Boys With X-Linked Hypohidrotic Ectodermal Dysplasia
Haploinsufficiency of HDAC4 Does Not Cause Intellectual Disability in All Affected Individuals
The High Frequency of Genetic Diseases in Hypotonic Infants Referred by Neuropediatrics
Novel SMAD4 Mutation Causing Myhre Syndrome
Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature and Severity Assessment
Complex Mosaic CDKL5 Deletion With Two Distinct Mutant Alleles in a 4-Year-Old Girl
Confirmation of 6q21–6q22.1 Deletion in Acro-Cardio-Facial Syndrome and Further Delineation of This Contiguous Gene Deletion Syndrome
Screening Children With Neurofibromatosis Type 1 for Autism Spectrum Disorder
Etiology and Pathogenesis of Ectodermal Dysplasias
The Spectrum of ZEB2 Mutations Causing the Mowat–Wilson Syndrome in Japanese Populations
Phenotypic Features in Patients With 15q11.2(BP1-BP2) Deletion: Further Delineation of an Emerging Syndrome
Rodriguez Syndrome With SF3B4 Mutation: A Severe Form of Nager Syndrome?
Upper Airway Surgery of Obstructive Sleep Apnea in Pycnodysostosis: Case Report and Literature Review
A Patient With Cantú Syndrome Associated With Fatal Bronchopulmonary Dysplasia and Pulmonary Hypertension
The Society of Craniofacial Genetics and Developmental Biology 36th Annual Meeting
7p22.3 Microdeletion Disrupting SNX8 in a Patient Presenting with Intellectual Disability but no Tetralogy of Fallot
Hepatomegaly and Hyperammonemia in a Girl With Silver–Russell Syndrome Caused by Maternal Uniparental Isodisomy of Chromosome 7
Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder
Far from the tree: Parents, children, and the search for identity by Andrew Solomon
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity
Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation
Copy number variation in bronchopulmonary dysplasia
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader–Willi/Angelman syndrome critical region
A Double-Blind Randomized Controlled Trial of Oxytocin Nasal Spray in Prader Willi Syndrome
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2
Academia, advocacy, and industry: A collaborative method for clinical research advancement
Epidemiology of fragile X syndrome: A systematic review and meta-analysis
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1
Duplication of AKT3 is associated with macrocephaly and speech delay
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability
Response to Stanich et al.: Correspondence regarding—PTEN hamartoma tumor syndromes in childhood—Description of two cases and a proposal for follow-up protocol
Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol
Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain
Evaluation of participant recruitment methods to a rare disease online registry
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient
Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay
FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications
Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case
Formation of a familial ring chromosome 18 investigated by SNP-array analysis
Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
Early presentation of cystic kidneys in a family with a homozygous INVS mutation
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome
Encephalocele—Radial, Cardiac, Gastrointestinal, Anal/Renal Anomalies: Novel Evidence for a New Condition?
Report of a Newly Indentified Patient With Mutations in BMP1 and Underlying Pathogenetic Aspects
Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity
MMP13 Mutations are the Cause of Recessive Metaphyseal Dysplasia, Spahr Type
Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication
In search of biomarkers in psychiatry: EEG-based measures of brain function
Contribution of Congenital Heart Disease To Neuropsychiatric Outcome in School-Age Children With 22Q11.2 Deletion Syndrome