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Publications by John A. Phillips
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Longitudinal Analysis Casts Doubt on the Presence of Genetic Anticipation in Heritable Pulmonary Arterial Hypertension
American Journal of Respiratory and Critical Care Medicine
Pulmonary
Critical Care
Respiratory Medicine
Intensive Care Medicine
Serotonin Transporter Polymorphisms in Familial and Idiopathic Pulmonary Arterial Hypertension
American Journal of Respiratory and Critical Care Medicine
Pulmonary
Critical Care
Respiratory Medicine
Intensive Care Medicine
A Child With 45,x/46,X,del(Y)(q12) Identified With a Y-Specific Probe
Fertility and Sterility
Gynecology
Reproductive Medicine
Obstetrics
Genes and Pulmonary Hypertension: Update 2006
Advances in Pulmonary Hypertension
