• "Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome
• 5p13 microduplication in a malformed fetus and his unaffected father
• A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation
• A case report of Hennekam syndrome with a mutation in the CCBE1 gene
• A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote
• A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis
• A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (<em>NFIX</em>) Gene Has Phenotypic Features of Marshall-Smith Syndrome
• A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
• A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
• A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome
• A Rare Cause of Chylothorax: Hennekam Syndrome
• An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3
• An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation
• An approach to familial lymphoedema
• Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1^Y446C/Y446C variant
• Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
• APOE and the Association of Fatty Acids With the Risk of Stroke, Coronary Heart Disease, and Mortality
• Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow
• BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
• Benign and malignant tumors in Rubinstein-Taybi syndrome
• Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome
• Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
• Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
• Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia
• CCBE1 in Cardiac Development and Disease
• Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study
• Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
• Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
• Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
• Cornelia de Lange syndrome and cancer: An open question
• Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
• Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
• De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
• De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
• Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
• Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
• Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
• Development, behaviour and autism in individuals with SMC1A variants
• Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
• Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
• Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
• Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
• Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
• DOORS syndrome and a recurrent truncating ATP6V1B2 variant
• Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders
• European lipodystrophy registry: background and structure
• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
• Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
• Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome
• Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
• Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
• From fish embryos to human patients: lymphangiogenesis in development and disease
• Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
• Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
• Further delineation of Malan syndrome
• Genetic control of tumor development in malformation syndromes
• Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP
• h<em>CALCRL</em> mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
• Hennekam lymphangiectasia syndrome: A rare case of primary lymphedema
• Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency
• Hennekam syndrome due to a novel homozygous CCBE1 mutation presenting as pediatric-onset CVID
• Hennekam Syndrome: A Case Report
• Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics
• Heterozygous Variants in <em>FREM2</em> Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
• Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes
• In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function
• Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation
• Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome
• M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018)
• Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
• Menke-Hennekam Syndrome: A Literature Review and a New Case Report
• Multiple tumors due to mosaic genome-wide paternal uniparental disomy
• Newfound features associated with Hennekam Syndrome (<em>Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome</em>) complicated with comorbid Waldmann's Disease resulting in Celiac Disease
• Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome) complicated with comorbid Waldmann's Disease resulting in Celiac Disease
• Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis
• Novel mutation in <em>CCBE 1</em> as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1
• Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1
• Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis
• Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
• Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
• Primrose syndrome: Characterization of the phenotype in 42 patients
• Protein Losing Enteropathy in Hennekam Syndrome
• Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years
• Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
• Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply
• Specific combinations of biallelic <em>POLR3A</em> variants cause Wiedemann-Rautenstrauch syndrome
• Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
• Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions
• The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
• The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome
• The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice
• Thyroid function in males with fragile X syndrome
• TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
• Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report
• Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
• Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1
• Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
• Variants in nuclear factor I genes influence growth and development
• Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa
• Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants