2024
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
DiAdamo A, Chai H, Chong M, Wang G, Wen J, Jiang Y, Li P. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages. Global Medical Genetics 2024, 11: 123-131. PMID: 38560483, PMCID: PMC10980555, DOI: 10.1055/s-0044-1785227.Peer-Reviewed Original ResearchRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract Background
2018
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Tan Q, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Network U, Shashi V, Pena L, Alejandro M, Azamian M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Goldman A, Hanchard N, Jamal F, Karaviti L, Lalani S, Lee B, Lewis R, Marom R, Moretti P, Murdock D, Nicholas S, Orange J, Orengo J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Cope H, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Tan Q, Walley N, Aaron A, Beggs A, Berry G, Briere L, Cooper C, Donnell-Fink L, Fieg E, High F, Korrick S, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walker M, Walsh C, Esteves C, Glanton E, Holm I, Kohane I, McCray A, Might M, LeBlanc K, Bick D, Birch C, Boone B, Brown D, Dorset D, Jones A, Lazar J, Levy S, May T, Newberry J, Worthey E, Batzli G, Colley H, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Bonner D, Coakley T, Davidson J, Dries A, Enns G, Fernandez L, Fisher P, Friedman N, Hom J, Huang Y, Kohler J, Majcherska M, Marwaha S, McCormack C, Merker J, Reuter C, Sampson J, Smith K, Waggott D, Wheeler M, Zastrow D, Zhao C, Allard P, Barseghyan H, Butte M, Dell'Angelica E, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Lee H, Loo S, Martin M, MartÃnez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Signer R, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Behnam B, Burke E, D'Souza P, Davids M, Draper D, Estwick T, Ferreira C, Godfrey R, Groden C, Johnston J, Lau C, Macnamara E, Maduro V, Markello T, Morimoto M, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sharma P, CamiloToro, Wahl C, Yu G, Gropman A, Baker E, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Yang J, Postlethwait J, Westerfield M, Bican A, Brokamp E, Duncan L, Hamid R, Kozuira M, Newman J, Phillips J, Rives L, Robertson A, Shakachite L, Cogan J. Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features. Molecular Case Studies 2018, 4: a003046. PMID: 29970384, PMCID: PMC6169826, DOI: 10.1101/mcs.a003046.Peer-Reviewed Original ResearchConceptsShwachman-Diamond syndromeBone marrow abnormalitiesShwachman-DiamondPediatric patientsClinical featuresPancreatic insufficiencyDe novo variantsLike syndromeMarrow abnormalitiesMetaphyseal abnormalitiesPathogenic variantsBiallelic variantsMetaphyseal dysplasiaWhole-exome sequencing dataNovo variantsRecent evidenceEquivocal evidenceCausative genesPatientsPhenotypic featuresSyndromeAbnormalitiesPhenotypeFurther evidenceInitial indication
2012
Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders
Chung L, Bey AL, Jiang YH. Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders. Korean Journal Of Physiology And Pharmacology 2012, 16: 369-378. PMID: 23269898, PMCID: PMC3526740, DOI: 10.4196/kjpp.2012.16.6.369.Peer-Reviewed Original ResearchSynaptic plasticityAutism spectrum disorderConditional mutant miceSpectrum disorderHuman autism spectrum disorderMouse modelTherapeutic targetBehavioral abnormalitiesSynaptic defectsVisual cortexMutant miceNeuroanatomical basisDisordersAutistic behaviorAbnormalitiesMiceConstruct validitySubject of debateMost studiesMolecular studiesCore featuresCommon regionHippocampusCortexPlasticity
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