2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
1999
Prenatal diagnosis of ornithine transcarbamylase deficiency
Bale A. Prenatal diagnosis of ornithine transcarbamylase deficiency. Prenatal Diagnosis 1999, 19: 1052-1054. PMID: 10589058, DOI: 10.1002/(sici)1097-0223(199911)19:11<1052::aid-pd693>3.0.co;2-2.Peer-Reviewed Original ResearchPrenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.Peer-Reviewed Original Research
1995
The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.
Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.Peer-Reviewed Original Research