The Centers for Mendelian Genomics: A New Large-Scale Initiative to Identify the Genes Underlying Rare Mendelian Conditions
In Memoriam: Eric Engel, M.D., an Innovator, Mentor, and Humanist
Complex Genomic Rearrangement in the SOX9 5′ Region in a Patient With Pierre Robin Sequence and Hypoplastic Left Scapula
1.9 Mb Microdeletion Of 21q22.11 Within Braddock–Carey Contiguous Gene Deletion Syndrome Region: Dissecting the Phenotype
Three New Patients With FATCO: Fibular Agenesis With Ectrodactyly
Hearing Loss in Skeletal Dysplasia Patients
Attitudes Toward Prenatal Genetic Testing for Treacher Collins Syndrome Among Affected Individuals and Families
Supernumerary Marker Chromosomes Derived from Chromosome 6: Cytogenetic, Molecular Cytogenetic, and Array CGH Characterization
Germline Mosacism in Shprintzen–Goldberg Syndrome
Definition of a Critical Genetic Interval Related to Kidney Abnormalities in the Potocki–Lupski Syndrome
Maternal Genetic Effect in DNA Analysis: Egg on Your Traits
Isodicentric Y Chromosomes in Egyptian Patients With Disorders of Sex Development (DSD)
Proposal of a Clinical Score for the Molecular Test for Pitt–Hopkins Syndrome
Recurrent Mutations in the CDKL5 Gene: Genotype–phenotype Relationships
Studies Of TBX4 and Chromosome 17q23.1q23.2: An Uncommon Cause of Nonsyndromic Clubfoot
Scoliosis in Prader–Willi Syndrome: Effect of Growth Hormone Therapy and Value of Paravertebral Muscle Volume by CT in Predicting Scoliosis Progression
Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and Seizures
Survey Of Health Status and Complications Among Propionic Acidemia Patients
A Mixed-Methods Investigation of Sensory Response Patterns in Barth Syndrome: A Clinical Phenotype?
Rare Inherited A2BP1 Deletion in a Proband With Autism and Developmental Hemiparesis
Beckwith–Wiedemann Syndrome in Sibs Discordant for IC2 Methylation
Aberrant Methylation of H19-DMR Acquired After Implantation Was Dissimilar in Soma Versus Placenta of Patients With Beckwith–Wiedemann Syndrome
Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies Syndrome With a Partial 21q22.3 Deletion
Saethre–Chotzen Phenotype With Learning Disability and Hyper IgE Phenotype in a Patient Due to Complex Chromosomal Rearrangement Involving Chromosomes 3 and 7
A Novel KIF11 Mutation in a Turkish Patient With Microcephaly, Lymphedema, and Chorioretinal Dysplasia from a Consanguineous Family
Phenotypic Progression of Skeletal Anomalies in CLOVES Syndrome
Finlay–Marks Syndrome: Report of Two Siblings and Review of Literature
Body Stalk Anomaly in Denmark During 20 Years (1970–1989)
Interstitial 9q34.11–q34.13 Deletion in a Patient With Severe Intellectual Disability, Hydrocephalus, and Cleft Lip/Palate
Molecular Cytogenetic Characterization and Genotype/Phenotype Analysis in a Patient With a de novo 8p23.2p23.3 Deletion/12p13.31p13.33 Duplication
PTΕN Hamartoma Tumor Syndrome and Gorham–Stout Phenomenon
Heterozygous Tandem Duplication Within the PTCH1 Gene Results in Nevoid Basal Cell Carcinoma Syndrome
Facial Phenotype at Different Ages and Cardiovascular Malformations in Children With Williams–Beuren Syndrome: A Study From India
Homozygous SMN1 Exons 1–6 Deletion: Pitfalls in Genetic Counseling and General Recommendations for Spinal Muscular Atrophy Molecular Diagnosis
A Benign Form of Congenital Anterolateral Bowing of the Tibia Associated With Ipsilateral Polydactyly of the Hallux: Case Report and Literature Review
Severe Plexiform Facial Neurofibromatosis, Type 1 With Underdeveloped Eyes and A Novel NF1 Mutation
Progressive Polyepiphyseal Dysplasia With Arthropathy: A Distinct Disorder From Idiopathic Juvenile Arthritis and Pseudorheumatoid Dysplasia?
XX Male Sex Reversal With Genital Abnormalities Associated With a De Novo SOX3 Gene Duplication
De Novo Triplication of the MAPT Gene From the Recurrent 17q21.31 Microdeletion Region in a Patient With Moderate Intellectual Disability and Various Minor Anomalies
An Unmasked Mutation Of EIF2B2 Due to Submicroscopic Deletion of 14q24.3 in a Patient With Vanishing White Matter Disease
Complete Trisomy 10p Resulting From an Extra Stable Telocentric Chromosome
RUNX1T1 , a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability
Contribution of LPP Copy Number and Sequence Changes to Esophageal Atresia, Tracheoesophageal Fistula, and VACTERL Association
Duplication of 18q21.32–q22.3 Identified in a Stillborn and Two Relatives With Minimal Dysmorphic Features
Periventricular Heterotopia With White Matter Abnormalities Associated With 6p25 Deletion
Multiple Supernumerary Molars, Anterior Openbite, and Large Ear Lobules In Mucopolysaccharidosis Type VI Patient
Sirenomelia and Caudal Malformations in Two Families
Sirenomelia and Cyclopia in the Same Patient After a Cluster of Cyclopia and Sirenomelia in Cali (South America)
Corrigendum to “Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93–127”