Julie M. Gastier-Foster, Ph.D. :: Nationwide Children's Hospital, Columbus, Ohio

Julie M. Gastier-Foster, Ph.D.

Julie M. Gastier-Foster, Ph.D.

Biopathology Center
Principal Investigator

Clinical Pathology
Vice Chair, Cytogenetics/ Molecular Genetics Laboratory

Pathology and Laboratory Medicine
Vice Chair

Pathology Fellowship
Faculty

Contact Information

The Research Institute at Nationwide Children's Hospital
700 Childrens Drive
Columbus, OH 43205 [ map ]
PH: (614) 722-2866
E-mail Me

Biography

Dr. Gastier-Foster received her doctoral degree from the Harvard Medical School. She completed her Medical Genetics fellowship at the Stanford University Medical School. Her areas of responsibility include Clinical Cytogenetics and Molecular Genetics, COG ALL Molecular Reference Laboratory, COG Neuroblastoma Reference Laboratory, COG Wilms Tumor Reference Laboratory and the ABMG Laboratory Fellowship program.

View CV »

Languages Spoken:

  • English

Research Interests

Research Center:

Education and Training

Doctoral

  • Department of Genetics, Harvard Medical School
    Date Completed: 08/01/1996

Post Doctoral

  • Stanford University School of Medicine
    Date Completed: 08/01/1999

Professional Experience

2009–present

  • Scientific Director Children’s Oncology Group Wilms Tumor Reference Laboratory The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio Processing, molecular triage, and review of Wilms tumor cases

2009–present

  • Associate Professor, Integrated Biomedical Science Graduate Program, Ohio State University School of Medicine Columbus, OH

2009–present

  • Associate Professor, Clinical Department of Pediatrics, Ohio State University School of Medicine Columbus, OH

2009–present

  • Associate Professor, Clinical, Department of Pathology, Ohio State University School of Medicine Columbus, OH

2007–present

  • Assistant Medical Director Biopathology Center The Research Institute at Nationwide Children’s Hospital Columbus, OH

2006–present

  • Scientific Director Children’s Oncology Group Neuroblastoma Reference Laboratory The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio Processing, molecular triage, and review of neuroblastoma cases

2005–present

  • Laboratory Training Director Clinical Molecular Genetics, Clinical Cytogenetics Fellowship Program Nationwide Children’s Hospital

2002–present

  • Scientific Director Children’s Oncology Group Acute Lymphoblastic Leukemia Molecular Reference Laboratory The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio Processing, banking, molecular triage, and review of pediatric ALL cases

2006–2009

  • Assistant Professor, Clinical, Department of Pediatrics, Ohio State University School of Medicine Columbus, OH

2002–2009

  • Assistant Professor, Integrated Biomedical Science Graduate Program, Ohio State University School of Medicine Columbus, OH

1999–2009

  • Assistant Professor, Clinical, Department of Pathology, Ohio State University School of Medicine Columbus, OH

1999–2002

  • Assistant Director, Cytogenetics Laboratory, Nationwide Children’s Hospital, Columbus, OH Review and signing of clinical cytogenetics and clinical molecular genetics cases

1996–1999

  • Research Associate/Laboratory Manager Howard Hughes Medical Institute Stanford University School of Medicine

Publications

  • Rudzinski ER, Anderson JR, Lyden ER, Bridge JA, Barr FG, Gastier-Foster JM, Bachmeyer K, Skapek SX, Hawkins DS, Teot LA, Parham DM. 2014. Myogenin, AP2 beta, NOS-1, and HMGA2 are surrogate markers of fusion status in rhabdomyosarcoma: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.  AMERICAN JOURNAL OF SURGICAL PATHOLOGY. Vol. 38, no. 5. (May): 654-659.
  • Pulsipher,Michael,A; Langholz,Bryan; Wall,Donna,A; Schultz,Kirk,R; Bunin,Nancy; Carroll,William,L; Raetz,Elizabeth; Gardner,Sharon; Gastier-Foster,Julie,M; Howrie,Denise; Goyal,Rakesh,K; Douglas,James,G; Borowitz,Michael; Barnes,Yvonne; Teachey,David,T; Taylor,Candace; Grupp,Stephan,A. 2014. The addition of sirolimus to tacrolimus/methotrexate GVHD prophylaxis in children with ALL: a phase 3 Children's Oncology Group/Pediatric Blood and Marrow Transplant Consortium trial.  BLOOD. Vol. 123, no. 13. (March): 2017-2025.
  • Polan,Michelle,B; Pastore,Matthew,T; Steingass,Katherine; Hashimoto,Sayaka; Thrush,Devon,L; Pyatt,Robert; Reshmi,Shalini; Gastier-Foster,Julie,M; Astbury,Caroline; McBride,Kim,L. 2014. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA(A) receptor subunit gene cluster.  EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22, no. 1. (January): 105-109.
  • Suganuma R, Wang LL, Sano H, Naranjo A, London WB, Seeger RC, Hogarty MD, Gastier-Foster JM, Look AT, Park JR, Maris JM, Cohn SL, Amann G, Beiske K, Cullinane CJ, d'Amore EG, Gambini C, Jarzembowski JA, Joshi VV, Navarro S, Peuchmaur M, Shimada H. 2013. Peripheral neuroblastic tumors with genotype-phenotype discordance: A report from the Children's Oncology Group and the International Neuroblastoma Pathology Committee.  Pediatric blood & cancer. Vol. 60, no. 3. (March): 363-370.
  • Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RL, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, Van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. 2013. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus.  American journal of human genetics. Vol. 92, no. 2. (February): 210-220.
  • Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. 2012. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 11. (November): 2925-2930.
  • La Madrid AM, Volchenboum S, Gastier-Foster JM, Pyatt R, Liu D, Pytel P, Lavarino C, Rodriguez E, Cohn SL. 2012. Locoregional MYCN-amplified neuroblastoma.  PEDIATRIC BLOOD & CANCER. Vol. 59, no. 4. (October): 736-738.
  • Cancer Genome Atlas Network (326 Collaborators). 2012. Comprehensive molecular portraits of human breast tumours.  NATURE. Vol. 490, no. 7418. (October): 61-70.
  • Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. 2012. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 8. (August): 1924-1933.
  • Duan F, Smith LM, Gustafson DM, Zhang C, Dunlevy MJ, Gastier-Foster JM, Barr FG. 2012. Genomic and clinical analysis of fusion gene amplification in rhabdomyosarcoma: A report from the Children's Oncology Group.  GENES CHROMOSOMES & CANCER. Vol. 51, no. 7. (July): 662-674.
  • Tasian SK, Doral MY, Borowitz MJ, Wood BL, Chen IM, Harvey RC, Gastier-Foster JM, Willman CL, Hunger SP, Mullighan CG, Loh ML. 2012. Aberrant STAT5 and PI3K/mTOR pathway signaling occurs in human CRLF2-rearranged B-precursor acute lymphoblastic leukemia.  BLOOD. Vol. 120, no. 4. (July): 833-842.
  • Cancer Genome Atlas Network (326 Collaborators). 2012. Comprehensive molecular characterization of human colon and rectal cancer.  NATURE. Vol. 487, no. 7407. (July): 330-337.
  • Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. 2012. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.  CLINICAL GENETICS. Vol. 81, no. 6. (June): 578-583.
  • Chen IM, Harvey RC, Mullighan CG, Gastier-Foster J, Wharton W, Kang H, Borowitz MJ, Camitta BM, Carroll AJ, Devidas M, Pullen DJ, Payne-Turner D, Taisan SK, Reshmi S, Cottrell CE, Reaman GH, Bowman WP, Carroll WL, Loh ML, Winick NJ, Hunger SP, Willman CL. 2012. Outcome modeling with CRLF2, IKZF1, JAK and minimal residual disease Study in pediatric acute lymphoblastic leukemia: a Children's Oncology Group.  BLOOD. Vol. 119, no. 15. (April): 3512-3522.
  • Chen,I-Ming; Harvey,Richard,C; Mullighan,Charles,G; Gastier-Foster,Julie; Wharton,Walker; Kang,Huining; Borowitz,Michael,J; Camitta,Bruce,M; Carroll,Andrew,J; Devidas,Meenakshi; Pullen,D,Jeanette; Payne-Turner,Debbie; Tasian,Sarah,K; Reshmi,Shalini; Cottrell,Catherine,E; Reaman,Gregory,H; Bowman,W,Paul; Carroll,William,L; Loh,Mignon,L; Winick,Naomi,J; Hunger,Stephen,P; Willman,Cheryl,L. 2012. Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.  Blood. Vol. 119, no. 15. (April): 3512-3522.
  • Mendell JR, Shilling C, Leslie ND, Flanigan KM, Al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. 2012. Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy.  ANNALS OF NEUROLOGY. Vol. 71, no. 3. (March): 304-313.
  • Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon WM, Shen YP, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu B-L, Pyatt RE, Schwartz S, Shaffer LG, de Vries BBA, Gusella JF, Elsea SH. 2011. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 89, no. 4. (October): 551-563.
  • Matloub Y, Bostrom BC, Hunger SP, Stork LC, Angiolillo A, Sather H, La M, Gastier-Foster JM, Heerema NA, Sailer S, Buckley PJ, Thomson B, Cole C, Nachman JB, Reaman G, Winick N, Carroll WL, Devidas M, Gaynon PS. 2011. Escalating intravenous methotrexate improves event-free survival in children with standard-risk acute lymphoblastic leukemia: a report from the Children's Oncology Group.  Blood. Vol. 118, no. 2. (July): 243-251.
  • Cottrell CE, Bir N, Varga E, Alvarez CE, Bouyain S, Zernzach R, Thrush DL, Evans J, Trimarchi M, Butter EM, Cunningham D, Gastier-Foster JM, McBride KL, Herman GE. 2011. Contactin 4 as an autism susceptibility locus.  Autism Res. Vol. 4, no. 3. (June): 189-199.
  • Cottrell C, Mendell J, Hart-Kothari M, Ell D, Thrush D, Astbury C, Pastore M, Gastier-Foster J, Pyatt R. 2011. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.  Clin Genet.
  • Reichek JL, Duan F, Smith LM, Gustafson DM, O'Connor RS, Zhang C, Dunlevy MJ, Gastier-Foster JM, Barr FG. 2011. Genomic and clinical analysis of amplification of the 13q31 chromosomal region in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.  Clin Cancer Res. Vol. 17, no. 6. (March): 1463-1473.
  • Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L. 2011. Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.  J Mol Diagn. Vol. 13, no. 2. (March): 167-174.
  • Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. 2010. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.  Am J Med Genet A. Vol. 152A, no. 12. (December): 3148-3153.
  • Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. 2010. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.  Ann Neurol. Vol. 68, no. 5. (November): 629-638.
  • Cottrell,Catherine,E; Prior,Thomas,W; Pyatt,Robert; Astbury,Caroline; Reshmi,Shalini; Bartholomew,Dennis; Atkin,Joan; Manickam,Kandamurugu; Thrush,Devon,Lamb; Pastore,Matthew; Mendell,Jerry; Tsao,Chang-Yong; Al-Dahhak,Roula; Newmeyer,Amy; Gastier-Foster,Julie,M. 2010. Unexpected Detection of Dystrophin Gene Deletions by Array Comparative Genomic Hybridization.  AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 152A, no. 9. (September): 2301-2307.
  • Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM. 2010. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.  Am J Med Genet A. Vol. 152A, no. 9. (September): 2301-2307.
  • Rosales,Xiomara,Q; Gastier-Foster,Julie,M; Lewis,Sarah; Malik,Vinod; Thrush,Devon,L; Astbury,Caroline; Pyatt,Robert; Reshmi,Shalini; Sahenk,Zarife; Mendell,Jerry,R. 2010. NOVEL DIAGNOSTIC FEATURES OF DYSFERLINOPATHIES.  MUSCLE & NERVE. Vol. 42, no. 1. (July): 14-21.
  • Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. 2010. Novel diagnostic features of dysferlinopathies.  Muscle Nerve. Vol. 42, no. 1. (July): 14-21.
  • Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. 2010. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.  Am J Hum Genet. Vol. 86, no. 3. (March): 454-461.
  • Julie Gastier-Foster. 2010. Precursor B-cell Lymphoblastic Leukemia / Lymphoma. In Molecular Pathology of Hematolymphoid Diseases. Edited by Dunphy C. Springer, NY: Springer.
  • Tsuchiya KD, Shaffer LG, Aradya S, Gastier-Foster JM, Patel A, Rudd MK, Biggerstaff JS, Sanger WG, Schwartz S, Tepperberg JH, Thorland EC, Torchia BA, Brothman AR. 2009. Variability in interpreting and reporting copy number changes by array-based technology in clinical laboratories.  Genet Med. Vol. 11, no. 12. (December): 866-873.
  • Okamatsu C, London WB, Naranjo A, Hogarty MD, Gastier-Foster JM, Look AT, LaQuaglia M, Maris JM, Cohn SL, Matthay KK, Seeger RC, Saji T, Shimada H. 2009. Clinicopathological characteristics of ganglioneuroma and ganglioneuroblastoma: a report from the CCG and COG.  Pediatr Blood Cancer. Vol. 53, no. 4. (October): 563-569.
  • Moran,Lisa,M; Taylor,H,Gerry; Ganesalingam,Kalaichelvi; Gastier-Foster,Julie,M; Frick,Jessica; Bangert,Barbara; Dietrich,Ann; Nuss,Kathryn,E; Rusin,Jerome; Wright,Martha; Yeates,Keith,O. 2009. Apolipoprotein E4 as a Predictor of Outcomes in Pediatric Mild Traumatic Brain Injury. In Annual Meeting of the Pediatric-Academic-Societies/Society-of-Pediatric-Research
  • Moran LM, Taylor HG, Ganesaligam K, Gastier-Foster JM, Frick J, Bangert B, Dietrich A, Nuss KE, Rusin J, Wright M, Yeates KO. 2009. Apolipoprotein E4 as a predictor of outcomes in pediatric mild traumatic brain injury.  J Neurotrauma. Vol. 26, no. 9. (September): 1489-1495.
  • Barr FG, Duan F, Smith LM, Gustafson D, Pitts M, Hammond S, Gastier-Foster JM. 2009. Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.  Genes Chromosomes Cancer. Vol. 48, no. 8. (August): 661-672.
  • Cottrell CE, Sommer A, Wenger GD, Bullard S, Busch T, Krahn KN, Lidral AC, Gastier-Foster JM. 2009. Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.  Am J Med Genet A. Vol. 149A, no. 3. (March): 408-414.
  • Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. 2007. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.  Genet Med. Vol. 9, no. 7. (July): 413-426.
  • Auer H, Newsom DL, Nowak NJ, McHugh KM, Singh S, Yu CY, Yang Y, Wenger GD, Gastier-Foster JM, Kornacker K. 2007. Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.  BMC Genomics. Vol. 8, no. April: e111.
  • Frick,J; Yeates,K,O; Taylor,H,G; Gastier-Foster,J,M. 2005. Use of the Inno-Lipa system for rapid detection of APOE genotypes from buccal swabs. In Annual Meeting of the Association-for-Molecular-Pathology
  • Drury,A; Pastore,M; Springer,M; Atkin,J; Gastier-Foster,J. 2005. Imperfection of CFTR mutation panels: Detection of the CFTRdel2,3(21 kb) possible only with the Inno-Lipa CFTR36 assay. In Annual Meeting of the Association-for-Molecular-Pathology
  • Kim GE, Beach B, Gastier-Foster JM, Murata-Collins JL, Rowland JM, O’Donnell RJ, Goldsby RE. 2005. Ewing sarcoma as a second malignant neoplasm after acute lymphoblastic leukemia.  Pediatr Blood Cancer. Vol. 45, no. 1. (July): 57-59.
  • Wenger,G,D; Millard,M; Gastier-Foster,J,M. 2004. DiGeorge/velocardiofacial syndrome (DGS/VCFS) as a result of adjacent-2 segregation. In 16th European Colloquium on Animal Cytogenetics and Gene Mapping (16th ECACGM)
  • Yeager ND, Dolan ME, Gastier JM, Gross TG, Delaney S, Frick J, Ruymann FB, Ewesuedo R. 2003. O6-methylguanine-DNA methyltransferase activity and promoter methylation status in pediatric rhabdomyosarcoma.  J Pediatr Hematol Oncol. Vol. 25, no. 12. (December): 941-947.
  • Springer,M,A; Gastier-Foster,J,M; Erdman,L; Gordon,J; Hamelberg,B; Kulmer,C; Deeg,C; Labanowska,J; O'Shaughnessy,R; Wenger,G,D. 2003. Paracentric inversions (PAI) and associated risks: A case report of a PAI carrier with two recombinant offspring. In 53rd Annual Meeting of the American-Society-of-Human-Genetics
  • Gastier-Foster,J,M; Schulz,L; Frick,J; Sommer,A; Wenger,G,D. 2002. Molecular analysis of concurrent Williams-Beuren Syndrome and Chronic Granulomatous Disease.
  • Ewesuedo,R; Yeager,N; Frick,J; Gastier-Foster,J. 2002. MGMT promoter methylation in pediatric rhabdomyosarcoma.
  • Graef IA, Gastier JM, Francke U, Crabtree GR. 2001. Evolutionary relationships among Rel domains indicate functional diversification by recombination.  Proc Natl Acad Sci USA. Vol. 98, no. 10. (May): 5740-5745.
  • Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U. 2000. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.  Hum Mutat. Vol. 16, no. 4. (October): 323-333.
  • Ferguson PJ, Blanton S, Saulsbury FT, McDuffie MJ, Lemahieu V, Gastier JM, Francke U, Borowitz SM, Sutphen JL, Kelly TE. 2000. Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.  Am J Med Genet. Vol. 90, no. 5. (February): 390-397.
  • Lemahieu V, Gastier JM, Francke U. 1999. Novel mutations in the Wiskott-Aldrich Syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.  Hum Mutat. Vol. 14, no. 1. (January): 54-66.
  • Nishimura DY, Swiderski RE, Alward WLM, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. 1998. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.  Nat Genet. Vol. 19, no. 2. (June): 140-147.
  • Yandava CN, Gastier JM, Pulido JC, Brody T, Sheffield V, Murray J, Buetow K, Duyk GM. 1997. Characterization of the Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites.  Genome Res. Vol. 7, no. 7. (July): 716-724.
  • Gastier JM, Brody T, Pulido JC, Businga T, Sunden S, Hu X, Maitra S, Buetow KH, Murray JC, Sheffield VC, Boguski M, Duyk GM, Hudson TJ. 1996. Development of a screening set for new (CAG/CTG)n dynamic mutations.  Genomics. Vol. 32, no. 1. (February): 75-85.
  • Sunden SL, Businga T, Beck J, McClain A, Gastier JM, Pulido JC, Yandava CN, Brody T, Ghazizadeh J, Weber JL, Duyk GM, Murray JC, Buetow KH, Sheffield VC. 1996. Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2.  Genomics. Vol. 32, no. 1. (February): 15-20.
  • Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, Pulido JC, Yandava C, Sunden SL, Mattes G, Businga T, McClain A, Beck J, Scherpier T, Gilliam J, Zhong J, Duyk GM. 1995. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.  Hum Mol Genet. Vol. 4, no. 10. (October): 1837-1844.
  • Gastier JM, Pulido JC, Sunden S, Brody T, Buetow KH, Murray JC, Weber JL, Hudson TJ, Sheffield VC, Duyk GM. 1995. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.  Hum Mol Genet. Vol. 4, no. 10. (October): 1829-1836.
  • Marigo V, Roberts DJ, Lee SM, Tsukurov O, Levi T, Gastier JM, Epstein DJ, Gilbert DJ, Copeland NG, Seidman CE, Jenkins NA, Seidman JS, McMahon AP, Tabin C. 1995. Cloning, expression, and chromosomal localization of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.  Genomics. Vol. 28, no. 1. (July): 44-51.
  • Duyk GM, Gastier JM, Mueller RF. 1992. Traces of Her Workings.  Nat Genet. Vol. 2, no. 1. (September): 5-8.
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