2019
Refractory Infantile Chronic Diarrhea and Failure to Thrive in a 6-Month-Old Boy With a Complex Past Medical History
Okafor D, AlRabadi L, Alper A, Jeffries L, McGrath J, Porto AF. Refractory Infantile Chronic Diarrhea and Failure to Thrive in a 6-Month-Old Boy With a Complex Past Medical History. Clinical Pediatrics 2019, 58: 707-710. PMID: 30788983, DOI: 10.1177/0009922819832034.Peer-Reviewed Original Research
2017
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
Jeffries L, Shima H, Ji W, Panisello‐Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. American Journal Of Medical Genetics Part A 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.Peer-Reviewed Original ResearchConceptsConstellation of symptomsAdditional clinical featuresNovel de novo variantReview of phenotypesSAMD9 mutationsAdrenal insufficiencyMultidisciplinary managementAdditional patientsClinical featuresPatient's courseSpecialist careMIRAGE syndromeDe novo variantsEarly diagnosisHigh riskPatientsTreatment planGermline gainNatural historyFunction variantsGenital phenotypeNovo variantsRestriction of growthSyndromeAmino acid variants