Allen Bale, MD

• Ajay Malhotra
• Alexa Siddon
• Alexander B. Pine
• Alfred Lee
• Andrea Barbieri
• Andrew DeWan
• Arya Mani
• Brenda Cartmel
• Carrie L Lucas
• Cassius Iyad Ochoa Chaar
• Chen Zhao
• Christopher Castaldi
• David J Leffell
• David N. Assis
• David Rimm
• Deqiong Ma
• Dhanpat Jain
• Dinesh Pashankar
• Douglas E Brash
• Engin Deniz
• Gilbert Moeckel
• Harvey Risch
• Ian Odell
• Jia Di Wen
• Joel Gelernter
• Joseph Akar
• Lauren Jeffries
• Leah Ferrucci
• Lohith Gowda
• Margaret Bia
• Michele Spencer-Manzon
• Mohammad Abdullah Zafar
• Monica Konstantino
• Natalia Neparidze
• Neera Dahl
• Nikolai Podoltsev
• Nina Brodsky
• Ninani Kombo
• Noffar Bar
• Patrick Gallagher
• Peining Li
• Po-Han Chen
• Pramod Mistry
• Richard Pierce
• Sachin Majumdar
• Sanjay Kulkarni
• Saquib A. Lakhani
• Sarika Ramachandran
• Sean Gu
• Silvia Vilarinho
• Stefan Somlo
• Stephanie Halene
• Terri Parker
• Timothy Nottoli
• Uma Phatak
• Uma Reddy
• Weizhen Ji
• Xuchen Zhang
• Yong-Hui Jiang

Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Multiple Endocrine Neoplasia; Neoplastic Syndromes, Hereditary; Skin Neoplasms

• A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
• 978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in ChildrenGALUPPO B, MANNAM P, TRICO D, BALE A, CAPRIO S, SANTORO N. 978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children. Diabetes 2022, 71 DOI: 10.2337/db22-978-p.
• Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsWen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.
• A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiencySun Q, Gehlhausen JR, Freudzon M, Kibbi N, Bale A, Choate K, Tomayko M, Odell I, Ramachandran S. A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency. JAAD Case Reports 2021, 18: 61-63. PMID: 34825039, PMCID: PMC8605275, DOI: 10.1016/j.jdcr.2021.10.015.
• D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemiaWerner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
• Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy LossZhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
• Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissuesWen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.
• Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosisLi Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.
• A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetranceMendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.
• Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy lossZhao 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.
• A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTHMajumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.
• COVID-19 outcomes and the human genomeMurray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. COVID-19 outcomes and the human genome. Genetics In Medicine 2020, 22: 1175-1177. PMID: 32393819, PMCID: PMC8629441, DOI: 10.1038/s41436-020-0832-3.
• A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsChai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.
• Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical ImplicationsVinholo T, Brownstein AJ, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications. Aorta 2019, 07: 099-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.
• Clinical utility of genomic analysis in adults with idiopathic liver diseaseHakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
• A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young ManMadhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.
• Global gene expression of histologically normal primary skin cells from BCNS subjects reveals “single-hit” effects that are influenced by rapamycinPhatak A, Athar M, Crowell JA, Leffel D, Herbert BS, Bale AE, Kopelovich L. Global gene expression of histologically normal primary skin cells from BCNS subjects reveals “single-hit” effects that are influenced by rapamycin. Oncotarget 2019, 10: 1360-1387. PMID: 30858923, PMCID: PMC6402716, DOI: 10.18632/oncotarget.26640.
• A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal deathPenque 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.
• TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel PresentationGulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.
• Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patientsCouto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.
• Whole-exome sequencing in evaluation of patients with venous thromboembolismLee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.
• Predictors of tanning dependence in white non‐Hispanic females and malesCartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM. Predictors of tanning dependence in white non‐Hispanic females and males. Journal Of The European Academy Of Dermatology And Venereology 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.
• Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in AdultsSeidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.
• Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendationsZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.
• Body mass index, height and early-onset basal cell carcinoma in a case-control studyZhang Y, Cartmel B, Choy C, Molinaro A, Leffell D, Bale A, Mayne S, Ferucci L. Body mass index, height and early-onset basal cell carcinoma in a case-control study. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032524.
• Predictors of tanning dependence in white non-hispanic females and malesCartmel B, Mayne S, Bale A, Gelernter J, DeWan A, Leffell D, Pagoto S, Spain P, Ferrucci L. Predictors of tanning dependence in white non-hispanic females and males. Dermatology Online Journal 2016, 22 DOI: 10.5070/d3229032556.
• Whole Exome Sequencing in Evaluation of Thrombophilia: A Novel 33-Gene PanelLee E, Dykas D, Bale A, Cromwell C, Parker T, Halene S, Burns A, Yao X, Lee A. Whole Exome Sequencing in Evaluation of Thrombophilia: A Novel 33-Gene Panel. Blood 2015, 126: 3529. DOI: 10.1182/blood.v126.23.3529.3529.
• Abstract A50: Impact of indoor tanning and MC1R genotype on basal cell carcinoma risk in young peopleMolinaro A, Ferrucci L, Cartmel B, Loftfield E, Leffell D, Bale A, Mayne S. Abstract A50: Impact of indoor tanning and MC1R genotype on basal cell carcinoma risk in young people. Cancer Prevention Research 2015, 8: a50-a50. DOI: 10.1158/1940-6215.prev-14-a50.
• Novel gene identified in an exome‐wide association study of tanning dependenceCartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE. Novel gene identified in an exome‐wide association study of tanning dependence. Experimental Dermatology 2014, 23: 757-759. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.
• Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiologyVilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
• Systemic glucocorticoid use and early-onset basal cell carcinomaTroche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST. Systemic glucocorticoid use and early-onset basal cell carcinoma. Annals Of Epidemiology 2014, 24: 625-627. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.
• Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patientsCARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.
• Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to PrediabetesGiannini C, Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N. Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes. Diabetes Care 2014, 37: 475-482. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.
• Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell CarcinomaCartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST. Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma. JAMA Dermatology 2013, 149: 1110-1111. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.
• The Promise and Pitfalls of Genomics-Driven Cancer MedicineHofstatter EW, Bale AE. The Promise and Pitfalls of Genomics-Driven Cancer Medicine. The AMA Journal Of Ethic 2013, 15: 681. PMID: 23937784, DOI: 10.1001/virtualmentor.2013.15.8.stas1-1308.
• MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk?Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.
• Abstract 635: Indoor tanning and risk of early-onset basal cell carcinomaFerrucci L, Cartmel B, Molinaro A, Leffell D, Bale A, Mayne S. Abstract 635: Indoor tanning and risk of early-onset basal cell carcinoma. Cancer Research 2012, 72: 635-635. DOI: 10.1158/1538-7445.am2012-635.
• PCR Based Diagnosis of Fragile X SyndromeDykas D, Bale A. PCR Based Diagnosis of Fragile X Syndrome. 2012, 363-372. DOI: 10.1007/978-1-4614-2170-2_24.
• Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlatesLostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.
• Correlation of Global MicroRNA Expression With Basal Cell Carcinoma SubtypeHeffelfinger C, Ouyang Z, Engberg A, Leffell DJ, Hanlon AM, Gordon PB, Zheng W, Zhao H, Snyder MP, Bale AE. Correlation of Global MicroRNA Expression With Basal Cell Carcinoma Subtype. G3: Genes, Genomes, Genetics 2012, 2: 279-286. PMID: 22384406, PMCID: PMC3284335, DOI: 10.1534/g3.111.001115.
• Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescentsSantoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.
• Indoor tanning and risk of early-onset basal cell carcinomaFerrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST. Indoor tanning and risk of early-onset basal cell carcinoma. Journal Of The American Academy Of Dermatology 2011, 67: 552-562. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.
• Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell CarcinomaFerrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.
• Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinomaWang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, LeBoit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 17761-17766. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.
• Abstract A83: Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinomaFerrucci L, Cartmel B, Molinaro A, Gordon P, Leffell D, Bale A, Mayne S. Abstract A83: Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma. Cancer Prevention Research 2011, 4: a83-a83. DOI: 10.1158/1940-6207.prev-11-a83.
• Functional and physical interaction between the mismatch repair and FA-BRCA pathwaysWilliams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.
• Hereditary MelanomaBonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.
• Tea and coffee and basal cell carcinoma in a case‐control studyFerrucci L, Cartmel B, Molinaro A, Leffell D, Bale A, Mayne S. Tea and coffee and basal cell carcinoma in a case‐control study. The FASEB Journal 2011, 25: 978.2-978.2. DOI: 10.1096/fasebj.25.1_supplement.978.2.
• Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial TrichoepitheliomasJensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.
• Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways.Williams S, Wilson J, Clark A, Mitson-Salazar A, Bale A, Jones N, Kupfer G. Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways. Blood 2010, 116: 3370. DOI: 10.1182/blood.v116.21.3370.3370.
• A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescentsSantoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.
• Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient modelKottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-952. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.
• MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repairMarek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.
• Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysisPearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.
• Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis.Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.
• Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studiesBrailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.
• Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndromeCajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature Reviews Clinical Oncology 2006, 3: 575-580. PMID: 17019435, DOI: 10.1038/ncponc0608.
• A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase DeficiencyKlein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.
• Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian CancerPejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.
• Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage ResponseBusygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage Response. Cancer Research 2006, 66: 8397-8403. PMID: 16951149, DOI: 10.1158/0008-5472.can-06-0061.
• PGR +331 A/G and Increased Risk of Epithelial Ovarian CancerRisch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.
• Drosophila homologs of FANCD2 and FANCL function in DNA repairMarek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-1326. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.
• Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) geneYamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-632. PMID: 16786505, DOI: 10.1002/humu.20339.
• Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratoryKlein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.
• Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fusedCooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.
• Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratoryKlein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.
• Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.
• Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer PatientsChoi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.
• BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast CancerKim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.
• Immunolocalization of PTCH Protein in Odontogenic Cysts and TumorsBarreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. PMID: 12407090, DOI: 10.1177/0810757.
• Immunolocalization of PTCH Protein in Odontogenic Cysts and TumorsBarreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. DOI: 10.1177/154405910208101107.
• MEN1 tumor‐suppressor protein localizes to telomeres during meiosisSuphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor‐suppressor protein localizes to telomeres during meiosis. Genes Chromosomes And Cancer 2002, 35: 81-85. PMID: 12203793, DOI: 10.1002/gcc.10113.
• Genetic and molecular control of folate-homocysteine metabolism in mutant mice.Ernest S, Christensen B, Gilfix BM, Mamer OA, Hosack A, Rodier M, Colmenares C, McGrath J, Bale A, Balling R, Sankoff D, Rosenblatt DS, Nadeau JH. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mammalian Genome : Official Journal Of The International Mammalian Genome Society 2002, 13: 259-67. PMID: 12016514, DOI: 10.1007/s00335-001-3054-2.
• HEDGEHOG SIGNALING AND HUMAN DISEASEBale AE. HEDGEHOG SIGNALING AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2002, 3: 47-65. PMID: 12142354, DOI: 10.1146/annurev.genom.3.022502.103031.
• Outcome of conservatively managed early-onset breast cancer by BRCA1/2 statusHaffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.
• Low frequency of recurrent BRCA1 and BRCA2 mutations in SpainLlort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.
• PatchedBale A. Patched. 2002 DOI: 10.1002/0471203076.emm1095.
• Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancerKim S, Rimm D, Carter D, Khan A, Parisot N, Franco M, Bale A, Haffty B. Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancer. International Journal Of Radiation Oncology • Biology • Physics 2001, 51: 193. DOI: 10.1016/s0360-3016(01)02175-7.
• The hedgehog pathway and basal cell carcinomasBale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.
• Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1Petty E, Glynn M, Bale A. Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1. 2001, 49: 227-242. PMID: 21370144, DOI: 10.1385/1-59259-081-0:227.
• Sheep, lilies and human geneticsBale A. Sheep, lilies and human genetics. Nature 2000, 406: 944-945. PMID: 10984033, DOI: 10.1038/35023197.
• Identification of PATCHED mutations in medulloblastomas by direct sequencingDong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.
• PTCH Gene Mutations in Odontogenic KeratocystsBarreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.
• Conservatively managed breast cancer in young women: outcome as a function of BRCA 12 statusHaffy B, Harrold E, Khan A, Pathare P, Ward B, Matloff E, Alvarez-Franco M, Bale A. Conservatively managed breast cancer in young women: outcome as a function of BRCA 12 status. International Journal Of Radiation Oncology • Biology • Physics 2000, 48: 142. DOI: 10.1016/s0360-3016(00)80078-4.
• The hedgehog signalling pathway in tumorigenesis and developmentWicking C, Smyth I, Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 1999, 18: 7844-7851. PMID: 10630637, DOI: 10.1038/sj.onc.1203282.
• Prenatal diagnosis of ornithine transcarbamylase deficiencyBale 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.
• Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in childrenHeptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.
• Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old womanRaymond K, Bale A, Barnes A, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman. Genetics In Medicine 1999, 1: 293-294. PMID: 11258631, DOI: 10.1097/00125817-199909000-00008.
• Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the SkinGailani M, Bale A. Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin. Journal Of The National Cancer Institute 1997, 89: 1103-1109. PMID: 9262247, DOI: 10.1093/jnci/89.15.1103.
• Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndromeKimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.
• The Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of CarcinogenesisBale A. The Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of Carcinogenesis. Cancer Investigation 1997, 15: 180-186. PMID: 9095215, DOI: 10.3109/07357909709115772.
• Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.
• The role of the human homologue of Drosophila patched in sporadic basal cell carcinomasGailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.
• Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.
• Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma SyndromeHahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.
• CLINICAL FEATURES IN CHILDREN WITH NEVOID BASAL CELL CARCINOMA SYNDROME.• 863Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. CLINICAL FEATURES IN CHILDREN WITH NEVOID BASAL CELL CARCINOMA SYNDROME.• 863. Pediatric Research 1996, 39: 146-146. DOI: 10.1203/00006450-199604001-00885.
• Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.