2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathy
2020
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.Peer-Reviewed Original ResearchConceptsSpinal muscular atrophyIntellectual disabilityUnrelated patientsSingle-center experienceNew unrelated patientsCenter experienceDYNC1H1 geneCNS disordersCombined disordersCortical developmentDisease-causing variantsVariable syndromeNeuromuscular diseaseNeuromuscular phenotypePatientsMuscular atrophyHeterozygous variantsDYNC1H1Medical literatureCharcot-MarieDisordersType 20Novel variantsPhenotypeReportA novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
AbuBakr F, Jeffries L, Ji W, McGrath JM, Lakhani SA. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. Molecular Case Studies 2020, 6: mcs.a005207. PMID: 32299812, PMCID: PMC7304360, DOI: 10.1101/mcs.a005207.Peer-Reviewed Original ResearchConceptsCardiospondylocarpofacial syndromePathogenic variantsValvular heart diseaseDistinctive cutaneous findingsLikely pathogenic variantsCutaneous findingsFlexion contractureHeart diseaseSecond toePatientsShort statureGrowth factorProtein kinase kinase kinase 7Facial dysmorphismSyndrome phenotypeMissense variantsSyndromeKinase 7Kinase 1Novel variantsSixth variantSplice variantsPhenotypeFrame deletionInflammation
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
2018
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.Peer-Reviewed Original ResearchConceptsKLHL7 mutationsCrisponi syndromeSyndrome type 1Novel nonsense variantBohring-Opitz syndromeNovel multisystem diseaseNovel homozygous nonsense mutationMultiple dysmorphic featuresClinical featuresClinical findingsMultisystem diseaseLike presentationHomozygous nonsense mutationType 1Dysmorphic featuresDevelopmental delaySyndromeFurther delineationNonsense variantClinical traitsPatientsMember 7DiseaseDisease-associated variantsSiblings
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