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Allen Bale, MD

Professor of Genetics; Director, Fellowship in Laboratory Genetics and Genomics; Director, DNA Diagnostic Lab

Contact Information

Allen Bale, MD

Office Location

Mailing Address

  • Genetics

    PO Box 208005, 333 Cedar Street

    New Haven, CT 06520-8005

    United States

Yale DNA Diagnostic Laboratory

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Yale Medicine

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Research Summary

My laboratory’s focus is use of high-throughput sequencing for diagnosis of hereditary disorders and cancer. We are engaged in collaborative research with a variety of investigators at Yale and elsewhere who use exome or genome sequencing to understand the basis of human disease.

Extensive Research Description

The application of new molecular techniques to clinical diagnosis is the focus of the lab. Translational research projects include use of cutting edge, high-throughput sequencing to detect large structural variation and global methylation alterations in the human germline and in tumors. . Through collaboration with other investigators in the Department of Genetics and elsewhere in the medical school, we carry the most recent discoveries about genetic disorders and novel methodology from the research laboratory to the medical setting.

Coauthors

Research Interests

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

Selected Publications

  • Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996, 85: 841-51. PMID: 8681379.
  • Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma.Gailani MR, Leffell DJ, Ziegler A, Gross EG, Brash DE, Bale AE. Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-54. PMID: 8609643.
  • 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 hedgehog pathway and basal cell carcinomas.Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-62. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.
  • Hedgehog signaling and human disease.Bale 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.
  • MEN1 tumor-suppressor protein localizes to telomeres during meiosis.Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor-suppressor protein localizes to telomeres during meiosis. Genes, Chromosomes & Cancer 2002, 35: 81-5. PMID: 12203793, DOI: 10.1002/gcc.10113.
  • Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status.Haffty 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. Lancet 2002, 359: 1471-7. PMID: 11988246, DOI: 10.1016/S0140-6736(02)08434-9.
  • 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.
  • Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.Llort 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. PMID: 11857748, DOI: 10.1002/humu.9014.
  • BRCA status, molecular markers, and clinical variables in early, conservatively managed breast cancer.Kim 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: 167-74. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.
  • Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.Busygina 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: 2399-408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.
  • Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.Choi 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 : Official Journal Of The American Society Of Clinical Oncology 2004, 22: 1638-45. PMID: 15117986, DOI: 10.1200/JCO.2004.04.179.
  • Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2005, 7: 611-9. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.
  • Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2005, 7: 131-8. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.
  • Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.Cooper 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 (Cambridge, England) 2005, 132: 4407-17. PMID: 16155214, DOI: 10.1242/dev.02021.
  • Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature Clinical Practice. Oncology 2006, 3: 575-80. PMID: 17019435, DOI: 10.1038/ncponc0608.
  • Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response.Busygina 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: 8397-403. PMID: 16951149, DOI: 10.1158/0008-5472.CAN-06-0061.
  • PGR +331 A/G and increased risk of epithelial ovarian cancer.Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and increased risk of epithelial ovarian cancer. Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology 2006, 15: 1738-41. PMID: 16985038, DOI: 10.1158/1055-9965.EPI-06-0272.
  • Cytogenetic instability in ovarian epithelial cells from women at risk of ovarian cancer.Pejovic 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: 9017-25. PMID: 16982743, DOI: 10.1158/0008-5472.CAN-06-0222.
  • Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-32. PMID: 16786505, DOI: 10.1002/humu.20339.
  • 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.
  • A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.Klein 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: 1864-70. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.
  • Drosophila homologs of FANCD2 and FANCL function in DNA repair.Marek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-26. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.
  • MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair.Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-86. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.
  • Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model.Kottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-52. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.
  • A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents.Santoro 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 (Baltimore, Md.) 2010, 52: 1281-90. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.
  • Hereditary melanoma.Bonadies DC, Bale AE. Hereditary melanoma. Current Problems In Cancer 2011, 35: 162-72. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.
  • Basal cell carcinoma arising in a nevus sebaceus in a child with facial trichoepitheliomas.Jensen 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: 138-41. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.
  • Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.Wang 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: 17761-6. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.
  • Functional and physical interaction between the mismatch repair and FA-BRCA pathways.Williams 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: 4395-410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.
  • Correlation of Global MicroRNA Expression With Basal Cell Carcinoma Subtype.Heffelfinger 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 (Bethesda, Md.) 2012, 2: 279-86. PMID: 22384406, PMCID: PMC3284335, DOI: 10.1534/g3.111.001115.
  • Indoor tanning and risk of early-onset basal cell carcinoma.Ferrucci 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 2012, 67: 552-62. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.
  • Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.Santoro 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 (Baltimore, Md.) 2012, 55: 781-9. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.
  • Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.Ferrucci 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. The Journal Of Investigative Dermatology 2012, 132: 1272-9. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.
  • Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates.Lostritto 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.
  • Indoor tanning and tanning dependence in young people after a diagnosis of basal cell carcinoma.Cartmel 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: 1110-1. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.
  • The promise and pitfalls of genomics-driven cancer medicine.Hofstatter EW, Bale AE. The promise and pitfalls of genomics-driven cancer medicine. The Virtual Mentor : VM 2013, 15: 681-6. PMID: 23937784, DOI: 10.1001/virtualmentor.2013.15.8.stas1-1308.
  • Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.Vilarinho 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: 1056-63. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
  • Systemic glucocorticoid use and early-onset basal cell carcinoma.Troche 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: 625-7. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.
  • Co-occurrence of risk alleles in or near genes modulating insulin secretion predisposes obese youth to prediabetes.Giannini C, Dalla 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: 475-82. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.
  • Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients.Carneiro 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.
  • Novel gene identified in an exome-wide association study of tanning dependence.Cartmel 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: 757-9. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.
  • Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.Ziai 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.
  • Whole-exome sequencing in evaluation of patients with venous thromboembolism.Lee 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.
  • Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients.Couto 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.
  • Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.Seidelmann 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. Cardiovascular Genetics 2017, 10 PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/CIRCGENETICS.116.001573.
  • Predictors of tanning dependence in white non-Hispanic females and males.Cartmel 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 : JEADV 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.
  • TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.Gulati 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 : The Official Journal Of The National Kidney Foundation 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.
  • 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 2019, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
  • Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.Phatak 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.
  • Clinical utility of genomic analysis in adults with idiopathic liver disease.Hakim 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.
  • Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.Faggion Vinholo 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 (Stamford, Conn.) 2019, 7: 99-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.
  • A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.Chai 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.
  • A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN.Madhavan 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.
  • COVID-19 outcomes and the human genome.Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. COVID-19 outcomes and the human genome. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2020, 22: 1175-1177. PMID: 32393819, PMCID: PMC8629441, DOI: 10.1038/s41436-020-0832-3.
  • Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenetics And Cell Genetics 1989, 51: 622-947. PMID: 2676386, DOI: 10.1159/000132810.
  • A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.Majumdar 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.
  • 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 : Official Journal Of The American College Of Medical Genetics 2021, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.
  • The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.Gailani MR, StÃ¥hle-Bäckdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Undén AB, Dean M, Brash DE, Bale AE, ToftgÃ¥rd 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.
  • A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance.Mendoza 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 2021, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.
  • Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis.Pearce CL, Wu AH, Gayther SA, Bale AE, Beck PA, Beesley J, Chanock S, Cramer DW, DiCioccio R, Edwards R, Fredericksen ZS, Garcia-Closas M, Goode EL, Green AC, Hartmann LC, Hogdall E, Kjaer SK, Lissowska J, McGuire V, Modugno F, Moysich K, Ness RB, Ramus SJ, Risch HA, Sellers TA, Song H, Stram DO, Terry KL, Webb PM, Whiteman DC, Whittemore AS, Zheng W, Pharoah PD, Chenevix-Trench G, Pike MC, Schildkraut J, Berchuck A. 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: 282-8. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.
  • Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.Li 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.
  • Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues.Wen 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.
  • D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, 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 2022, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
  • A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency.Sun 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.
  • Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, 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.
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