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Vanderbilt-Ingram Cancer CenterVanderbilt-Ingram Cancer Center

 

John A. Phillips, M.D.

David T. Karzon Professor of Pediatrics
Professor of Medicine, Pathology, Microbiology and Immunology
Adjunct Professor of Pediatrics at Meharry Medical College
Director, Division of Medical Genetics
Researcher

Contact Information:

Vanderbilt University Medical Center
DD-2205 Medical Center North
Nashville, TN 37232-2578
615-322-7601

Education
  • M.D. - Wake Forest University, 1969
  • Fellowship - Johns Hopkins Hospital and Health System, 1974
  • Residency - Boston Children's Hospital, 1972
  • Internship - Boston Children's Hospital, 1970
 
Research Description

My current research interests are molecular investigations of the pathogenesis of Mendelian disorders. These include specific studies of the following: 1) genetic defects in the growth hormone (GH) synthetic pathway and regulation of alternative splicing of GH1 transcripts, 2) genetic basis of familial primary pulmonary hypertension (FPPH), 3) genetic basis of familial dyslexia, 4) genetic basis of idiopathic pulmonary fibrosis (IPF) and 5) determining the molecular basis of VLCAD, LCHAD and other selected disorders of fatty acid oxidation and genes that metabolize medications using a new patented method (GVS) to screen for human genome variation.

Studies of familial defects of the GH synthetic pathway include analysis of the GH, GH releasing hormone receptor (GHRHR) and pituitary speciufic transcription factor (PROP1) genes in kindreds with defects in GH biosynthesis or action. These studies have investigated the contribution of GH, GHRHR and PROP1 defects to familial forms of isolated GH and multiple pituitary hormone deficiencies. Present studies of alternative splicing of GH1 transcripts have identified dual exon and intron splice enhancers (ESE and ISEs) that regulate alternative splicing to select use of weak splicing sequences to achieve constitutive splicing patterns. We have identified a series of splicing enhancer mutations that perturb alternative splicing of GH transcripts to cause Mendelian forms of GH deficiency. The interactions between these enhancers and SR proteins to achieve tissue specific regulationof normal splicing patterns is being studied to determine the basic mechanisms that regulate alternative splicing. Parallel, collaborative sutdies of transgenic mice to determine the pathogenic mechanism by which alternative GH1 transcript splicing causes pituitary cell death.

Studies of FPPH include our mapping the gene for FPPH and discovery of BMPR2 mutations that cause FPPH. We have determined the mechanisms by which heterogeneous BMPR2 mutations cuase FPPH. We are now determining the contributions of BMPR2 and modifer gene mutations to the reduced penetrance that is observed in FPPH.

Studies of idiopathic pulmonary fibrosis or IPF have led to our discovery that heterozygosity for a surfactant protein C (SFTPC) mutation causes familial usual interstitial pneuomonitis in adults and cellular interstitial pneumonitis in children. These diagnoses represent pleiotropic effects of the retained protein that results from the SFTPC mutation that segregates in these large kindred. We are now determining the proportion of IPF families that are caused by SFTPC as well as the role of environmental agents in triggering IPF.

Studies of VLCAD and LCHAD include our devising PCR primers that will amplify the entire or combined segments of these genes. We are now applying a new, patented method of genetic variation screening (genomic variation screening or GVS) to detect all mutations that occur in the alleles of individuals who have these familial disorders of fatty oxidation.

We are also using GVS to screen genes that metabolize many medications and xenobiotics for common variations that occur in different populations. The common variations that we will find are likely to contribute to variations between the responses of different individuals to medications and environmental factors.





Publications
  • Patton, JG, Phillips, JA III, Ryther, RC. Targeted Degradation of RNA. United States Provisional Patent Application # 60/516,391. 2026 Nov.
  • Lane KB, Blackwell TR, Runo J, Wheeler L, Phillips JA, Loyd JE. Aberrant signal transduction in pulmonary hypertension. Chest. 2005 Dec; 128(6 Suppl): 564S-565S. PMID: 16373826, PII: 128/6_suppl/564S-a, DOI: 10.1378/chest.128.6_suppl.564S-a, ISSN: 0012-3692.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/16373826.
  • Garland EM, Winker R, Williams SM, Jiang L, Stanton K, Byrne DW, Biaggioni I, Cascorbi I, Phillips JA, Harris PA, Rüdiger H, Robertson D. Endothelial NO synthase polymorphisms and postural tachycardia syndrome. Hypertension [print-electronic]. 2005 Nov; 46(5): 1103-10. PMID: 16203873, PII: 01.HYP.0000185462.08685.da, DOI: 10.1161/01.HYP.0000185462.08685.da, ISSN: 1524-4563.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/16203873.
  • Cogan JD, Vnencak-Jones CL, Phillips JA, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Genet. Med. 2005 Mar; 7(3): 169-74. PMID: 15775752, PII: 00125817-200503000-00003, DOI: 10.109701.GIM.0000156525.09595.E9, ISSN: 1098-3600.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15775752.
  • Ryther RC, Flynt AS, Phillips JA, Patton JG. SiRNA therapeutics: big potential from small RNAs. Gene Ther. 2005 Jan; 12(1): 5-11. PMID: 15496962, PII: 3302356, DOI: 10.1038/sj.gt.3302356, ISSN: 0969-7128.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15496962.
  • Cogan, J.D., Vnencak-Jones, C.L., Phillips, J.A. III, Lane, K.B., Wheeler, L.A., Robbins, I.M., Garrison, G., Ledges, L.K. and Loyd, J.E. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Genetics in Medicine. 2005; 7: 169-74.
  • Ryther, RCC, Flynt, AS, Phillips, JA III, and Patton, JG. SiRNA therapeutics: big potential from small RNAs. Gene Therapy. 2005; 12: 5-11.
  • Lawson WE, Grant SW, Ambrosini V, Womble KE, Dawson EP, Lane KB, Markin C, Renzoni E, Lympany P, Thomas AQ, Roldan J, Scott TA, Blackwell TS, Phillips JA, Loyd JE, du Bois RM. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax. 2004 Nov; 59(11): 977-80. PMID: 15516475, PMCID: PMC1746860, PII: 59/11/977, DOI: 10.1136/thx.2004.026336, ISSN: 0040-6376.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15516475.
  • Hunley TE, Corzo D, Dudek M, Kishnani P, Amalfitano A, Chen YT, Richards SM, Phillips JA, Fogo AB, Tiller GE. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics. 2004 Oct; 114(4): e532-5. PMID: 15466083, PII: 114/4/e532, DOI: 10.1542/peds.2003-0988-L, ISSN: 1098-4275.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15466083.
  • Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J. Am. Coll. Cardiol. 2004 Jun 6/16/2004; 43(12 Suppl S): 33S-39S. PMID: 15194176, PII: S0735109704004371, DOI: 10.1016/j.jacc.2004.02.028, ISSN: 0735-1097.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15194176.
  • Ryther RC, Flynt AS, Harris BD, Phillips JA, Patton JG. GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA). Endocrinology [print-electronic]. 2004 Jun; 145(6): 2988-96. PMID: 14988388, PII: en.2003-1724, DOI: 10.1210/en.2003-1724, ISSN: 0013-7227.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/14988388.
  • Phillips JA. Genetics of growth retardation. J. Pediatr. Endocrinol. Metab. 2004 Mar; 17 Suppl 3: 385-99. PMID: 15134299, ISSN: 0334-018X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15134299.
  • Potter A, Hannig V, Phillips JA. The role of genetics in pediatric endocrinology. Pediatr Endocrinol Rev. 2004 Mar; 1(3): 262-73. PMID: 16437020, ISSN: 1565-4753.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/16437020.
  • Williams SM, Ritchie MD, Phillips JA, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, Moore JH. Multilocus analysis of hypertension: a hierarchical approach. Hum. Hered. 2004; 57(1): 28-38. PMID: 15133310, PII: 77387, DOI: 10.1159/000077387, ISSN: 0001-5652.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/15133310.
  • Williams, SM, Ritchie, MD, Phillips, JA III, Dawson, E, Prince, M, Dzhura, E, Willis, A, Semenya, A, Summar, M, White, BC, Addy, JH, Kpodonu, J, Wong, L-J, Felder, RA and Moore, JH. Multilocus analysis of hypertension: a hierarchical approach to a complex problem. Hum Hered. 2004; 57: 28-38.
  • Phillips JA. Dominant-negative diabetes insipidus and other endocrinopathies. J. Clin. Invest. 2003 Dec; 112(11): 1641-3. PMID: 14660740, PMCID: PMC281655, PII: 112/11/1641, DOI: 10.1172/JCI20441, ISSN: 0021-9738.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/14660740.
  • Ryther RC, McGuinness LM, Phillips JA, Moseley CT, Magoulas CB, Robinson IC, Patton JG. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. Hum. Genet [print-electronic]. 2003 Jul; 113(2): 140-8. PMID: 12720086, DOI: 10.1007/s00439-003-0949-x, ISSN: 0340-6717.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/12720086.
  • Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am. J. Respir. Crit. Care Med [print-electronic]. 2003 Mar 3/15/2003; 167(6): 889-94. PMID: 12446270, PII: 200208-861OC, DOI: 10.1164/rccm.200208-861OC, ISSN: 1073-449X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/12446270.
  • McGuinness, L, Magoulas, C, Sesay, AK, Mathers, K, Carmignac, D, Manneville, J-B, Christian, H, Phillips, J.A. III and Robinson, I.C.A.F. Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice. Endocrinol. 2003; 144: 720-31.
  • Moseley CT, Orenstein MD, Phillips JA. GH Gene Deletions and IGHD type IA. Rev Endocr Metab Disord. 2002 Dec; 3(4): 339-46. PMID: 12424435, ISSN: 1389-9155.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/12424435.
  • Phillips JA. Mutations of the GH gene. J. Pediatr. Endocrinol. Metab. 2002 Dec; 15 Suppl 5: 1435-6. PMID: 12511001, ISSN: 0334-018X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/12511001.
  • Thomas AQ, Carneal J, Markin C, Lane KB, Phillips JA, Loyd JE, Gaddipati R. Specific bone morphogenic protein receptor II mutations found in primary pulmonary hypertension cause different biochemical phenotypes in vitro. Chest. 2002 Mar; 121(3 Suppl): 83S. PMID: 11893707, ISSN: 0012-3692.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11893707.
  • Thomas AQ, Carneal J, Markin C, Lane KB, Phillips JA, Loyd JE. Allelic imbalance demonstrated by microsatellite analysis of lung samples from patients with familial pulmonary fibrosis. Chest. 2002 Mar; 121(3 Suppl): 25S. PMID: 11893660, ISSN: 0012-3692.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11893660.
  • Moseley CT, Mullis PE, Prince MA, Phillips JA. An exon splice enhancer mutation causes autosomal dominant GH deficiency. J. Clin. Endocrinol. Metab. 2002 Feb; 87(2): 847-52. PMID: 11836331, DOI: 10.1210/jcem.87.2.8236, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11836331.
  • Luka Z, Cerone R, Phillips JA, Mudd HS, Wagner C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum. Genet [print-electronic]. 2002 Jan; 110(1): 68-74. PMID: 11810299, DOI: 10.1007/s00439-001-0648-4, ISSN: 0340-6717.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11810299.
  • Moseley, CT, Mullis, PE, Prince, MA and Phillips & JA III. An exon splice enhancer mutation causes autosomal dominant growth hormone deficiency. J. Clin. Endocrinol. Metab. 2002; 87((J.Clin.Endocrinol. Metab.)): 847-52.
  • Thomas, AQ, Lane, K, Phillips, JA III, Prince, M., Markin, C, Gaddipati, R, Marney, A, Johnson, J, Haines, J, Stahlman, M and Loyd, JE. Heterozygosity for a surfactant protein C mutation causes familial usual interstitial pneuomonitis in adults and cellular interstitial pneumonitis in children. Am J Respir Crit Care Med. 2002; 165: 1322-8.
  • Phillips JA. MsJAMA. Genomic medicine: managing the complexity. JAMA. 2001 Oct 10/3/2001; 286(13): 1639. PMID: 11585494, PII: jms1003-6, ISSN: 0098-7484.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11585494.
  • Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA, Loyd JE. Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. N. Engl. J. Med. 2001 Aug 8/2/2001; 345(5): 319-24. PMID: 11484688, DOI: 10.1056/NEJM200108023450502, ISSN: 0028-4793.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11484688.
  • Marney A, Lane KB, Phillips JA, Riley DJ, Loyd JE. Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families. Chest. 2001 Jul; 120(1 Suppl): 56S. PMID: 11451917, ISSN: 0012-3692.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11451917.
  • Amalfitano, A., Bengur, A.R., Morse, R.P., Majure, J.M., Case, L.E., Veerling, D.L., Mackey, J., Kishnani, P., Smith, W., McVie-Wylie, A., Sullivan, J.A., hoganson, G.E., Phillips, J.A. III, Schaefer, G.B., Charrow, J., Ware, R.E., Bossen, E.H. and Chen, Y.-T. Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genetics in Medicine. 2001; 3: 132-8.
  • Dawson, E.T. and Phillips, J.A. III. Method for determining polynucleotide sequence variations. United States Patent # 6, 322,988 B1, Nov 27. 2001.
  • Machado, R.D., Pauciulo, M.W., Thomson, J.R., Lane, K.B., Morgan, N.V., Wheeler, L., Phillips, J.A. III, Newman, J., Williams, D., Galie, N., Manes, A., McNeil, K., Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J.E., Trembath, R.C. and Nichols, W.C. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am. J. Hum. Genet. 2001; 68: 92-102.
  • Newman, J.H., Wheeler, L., Lane, K.B., Loyd, E., Gaddipati, R., Phillips, J.A. III and Loyd, J.E. Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. N. Engl. J. Med. 2001; 345: 319-24.
  • Salvatori, R., Fan, X., Phillips, J.A. III, Espigares-Martin, R., de Lara, I.M., Freeman, K.L., Plotnick, L., Al-Ashwal, A. and Levine, M.A. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J. Clin. Endocrinol. Metab. 2001; 86: 273-9.
  • Salvatori, R., Fan, X., Phillips, J.A. III, Prince, M. and Levine, M.A. Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clin. Endocrinol. 2001; 54: 681-7.
  • , Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat. Genet. 2000 Sep; 26(1): 81-4. PMID: 10973254, DOI: 10.1038/79226, ISSN: 1061-4036.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/10973254.
  • Cogan, J.D. and Phillips, J.A. III. Inherited defects in growth hormone synthesis and action. The Metabolic and Molecular Bases of Inherited Disease, Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), 8th edition, McGraw-Hill. 2000; 4159-80.
  • Moseley CT, Phillips JA. Pituitary gene mutations and the growth hormone pathway. Semin. Reprod. Med. 2000; 18(1): 21-9. PMID: 11299517, ISSN: 1526-8004.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11299517.
  • Skordis N, Patsalis PC, Hettinger JA, Kontou M, Herakleous E, Krishnamani MR, Phillips JA. A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. Horm. Res. 2000; 53(5): 239-45. PMID: 11150885, PII: 23573, DOI: 23573, ISSN: 0301-0163.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11150885.
  • The International PPH Consortium K. B. Lane, R. Machado, M. W. Pauciulo, J. R.Thomson, J. A. Philips III, J. E. Loyd, W C. Nichols and R C. Trembath. Heterozygous Germline mutations in BMPR-II are the cause of Familial Primary Pulmonary Hypertension. Nature Genetics. 2000; 26: 81-4.
  • Williams, S.M., Addy, J.H., Phillips, J.A. III, Dai, M., Kpodonu, J., Afful, J., Jackson, H., Joseph, K., Eason, F., Murray, M.M., Epperson, P., Aduonum, A., Wong, L.-J., Jose, P.A. and Felder, R.A. Combinations of variations in multiple genes are associated with hypertension. Hypertension. 2000; 36: 2-6.
  • Phillips JA, Hamid R. Human mutations and their detection by gene and linkage analysis, allele sharing and association methods. East. Mediterr. Health J. 1999 Nov; 5(6): 1140-6. PMID: 11924102, ISSN: 1020-3397.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/11924102.
  • Phillips JA, Prince MA. Applications of new genetic approaches to growth hormone-releasing hormone receptor defects. Growth Horm. IGF Res. 1999 Apr; 9 Suppl A: 45-9. PMID: 10429880, ISSN: 1096-6374.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/10429880.
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L. Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Hum. Biol. 1999 Feb; 71(1): 111-21. PMID: 9972102, ISSN: 0018-7143.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9972102.
  • Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA, Hogan BM, Fogo A, Brock JW, Inagami T, Ichikawa I. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol. Cell. 1999 Jan; 3(1): 1-10. PMID: 10024874, PII: S1097-2765(00)80169-0, ISSN: 1097-2765.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/10024874.
  • Fuller, B.P., Kahn, M.J.E., Barr, P.A., Biesecker, L., Crowley, E., Garber, J., Mansoura, M.K., Murphy, P., Murray, J., Phillips, J., Rothenberg, K., Rothstein, M., Stopfer, J., Swergold, G., Weber, B., Collins, F.S. and Hudson, K.L. Privacy in genetics research. Science. 1999; 285: 1359-61.
  • Nishimura, H, Yerkes, E, Hohenfellner, K, Miyazaki, Y, Ma, J, Hunley, TE, Yoshida, H, Ichiki, T, Threadgill, D, Phillips, JA III, Hogan, BML, Fogo, A, Brock, JW III, Inagami, T and Ichikawa, I. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Molec. Cell. 1999; 3: 1-10.
  • Salvatori, R., Gondo, R.G., de Aguirar Oliveira, M.H., Phillips, J. A. III, Souza, A.H., Hayashida, C.Y., Toledo, S.P., Conceicao, M.M., Prince, M., Baumann, G. and Levine, M.A. Familial isolated growth hormone deficiency due to a novel mutation in the growth hormone-releasing hormone receptor. J. Clin. Endocrinol. Metab. 1999; 84: 917-23.
  • Cogan JD, Wu W, Phillips JA, Arnhold IJ, Agapito A, Fofanova OV, Osorio MG, Bircan I, Moreno A, Mendonca BB. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J. Clin. Endocrinol. Metab. 1998 Sep; 83(9): 3346-9. PMID: 9745452, DOI: 10.1210/jcem.83.9.5142, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9745452.
  • McCarthy EM, Phillips JA. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum. Mol. Genet. 1998 Sep; 7(9): 1491-6. PMID: 9700205, PII: ddb203, ISSN: 0964-6906.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9700205.
  • Dasouki MJ, Cogan J, Summar ML, Neblitt W, Foroud T, Koller D, Phillips JA. Heterogeneity in hereditary pancreatitis. Am. J. Med. Genet. 1998 Apr 4/28/1998; 77(1): 47-53. PMID: 9557894, PII: 10.1002/(SICI)1096-8628(19980428)77:1<47::AID-AJMG11>3.0.CO;2-O, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9557894.
  • Cogan JD, Phillips JA. Growth disorders caused by genetic defects in the growth hormone pathway. Adv Pediatr. 1998; 45: 337-61. PMID: 9742308, ISSN: 0065-3101.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9742308.
  • Cogan, J.D., Wu, W., Phillips, J.A. III, Arnhold, I.J.P., Agapito, A., Fofanova, O.V., Osorio, M.G.F., Bircan, I., Moreno, A. and Mendonca, B.B. The PROP1 2-bp deletion is a common cause of CPHD. J. Clin. Endocrinol. & Metab. 1998; 83: 3346-9.
  • McCarthy, E.M.S. and Phillips, J.A. III. Characterization of an intron splice enhancer that regulates alternative splicing of GH pre-mRNA. Human Molec. Genetics. 1998; 7: 1491-6.
  • Wu, W., Cogan, J.D., Pfaffie, R.W., Dasen, J.S., Frisch, H., O'Connell, S.M., Flynn, S.E., Brown, M.R., Mullis, P.E., Parks, J.S., Phillips, J.A. III and Rosenfeld, M.G. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genetics. 1998; 18: 147-9.
  • Dasouki M, Jurecic V, Phillips JA, Whitlock JA, Baldini A. DiGeorge anomaly and chromosome 10p deletions: one or two loci?. Am. J. Med. Genet. 1997 Nov 11/28/1997; 73(1): 72-5. PMID: 9375926, PII: 10.1002/(SICI)1096-8628(19971128)73:1<72::AID-AJMG14>3.0.CO;2-O, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9375926.
  • Raskin S, Phillips JA, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Culpi L. Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. Hum. Biol. 1997 Aug; 69(4): 499-508. PMID: 9198309, ISSN: 0018-7143.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9198309.
  • Williams JB, Rexer B, Sirripurapu S, John S, Goldstein R, Phillips JA, Haley LL, Sait SN, Shows TB, Smith CM, Gerhard DS. The human HNP36 gene is localized to chromosome 11q13 and produces alternative transcripts that are not mutated in multiple endocrine neoplasia, type 1 (MEN I) syndrome. Genomics. 1997 Jun 6/1/1997; 42(2): 325-30. PMID: 9192854, PII: S0888-7543(97)94751-0, DOI: 10.1006/geno.1997.4751, ISSN: 0888-7543.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9192854.
  • Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EM, Phillips JA. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Mol. Genet. 1997 Jun; 6(6): 909-12. PMID: 9175738, PII: dda120, ISSN: 0964-6906.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9175738.
  • Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int. 1997 Jun; 51(6): 1893-9. PMID: 9186880, ISSN: 0085-2538.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9186880.
  • Loyd JE, Slovis B, Phillips JA, Butler MG, Foroud TM, Conneally PM, Newman JH. The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest. 1997 Jun; 111(6 Suppl): 82S-83S. PMID: 9184540, ISSN: 0012-3692.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9184540.
  • Miyata I, Cogan JD, Prince MA, Kamijo T, Ogawa M, Phillips JA. Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). Endocr. J. 1997 Feb; 44(1): 149-54. PMID: 9152628, ISSN: 0918-8959.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/9152628.
  • Cogan, J.D., Prince, M.A., Lekhakula, S., Bundey, S., Futrakul, A., McCarthy, E.M.S. and Phillips, J.A. III. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Molec. Genet. 1997; 6: 909-12.
  • Nichols, W.C., Koller, D.L., Slovis, B., Foroud, T., Terry, V.H., Arnold, N.D., Siemieniak, D.R., Wheeler, L., Phillips, J.A. 111, Newman, J.H., Conneally, P.M., Ginsburg, D. and Loyd, J.E. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q3l-32. Nature Genetics. 1997; 15: 277-80.
  • Repaske, D.R., Medlej, R., Gultekin, E.K., Krishnamani, M.R.S., Halaby, G., Findling, J.W. and Phillips, J.A.III. Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-'-Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptide precursor. J. Clin. Endocrinol. Metab. 1997; 82: 51-6.
  • Raskin S, Cogan JD, Summar ML, Moreno A, Krishnamani MR, Phillips JA. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Hum. Genet. 1996 Dec; 98(6): 703-5. PMID: 8931705, ISSN: 0340-6717.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8931705.
  • Hill KE, Dasouki M, Phillips JA, Burk RF. Human selenoprotein P gene maps to 5q31. Genomics. 1996 Sep 9/15/1996; 36(3): 550-1. PMID: 8884283, PII: S0888754396905054, ISSN: 0888-7543.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8884283.
  • Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW, Phillips JA. Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am. J. Hum. Genet. 1996 Mar; 58(3): 617-27. PMID: 8644721, PMCID: PMC1914565, ISSN: 0002-9297.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8644721.
  • Hunley TE, Julian BA, Phillips JA, Summar ML, Yoshida H, Horn RG, Brown NJ, Fogo A, Ichikawa I, Kon V. Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy. Kidney Int. 1996 Feb; 49(2): 571-7. PMID: 8821846, ISSN: 0085-2538.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8821846.
  • Hunley, T.E., Julian, B.A., Phillips, J.A. III, Summar, M.L., Yoshida, H., Horn, R.G., Brown, N.J., Fogo, A., Ichikawa, I. and Kon, V. Angiotensin converting enzyme, but not angiotensinogen or angiotensin type 1 receptor, gene poly-morphism predict progressive renal damage in IgA nephropathy. Kidney International. 1996; 49: 571-77.
  • Sierra-Rivera E, Dasouki M, Summar ML, Krishnamani MR, Meredith M, Rao PN, Phillips JA, Freeman ML. Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. Cytogenet. Cell Genet. 1996; 72(2-3): 252-4. PMID: 8978789, ISSN: 0301-0171.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8978789.
  • Ardehali H, Printz RL, Koch S, Phillips JA, Granner DK. Isolation, characterization and chromosomal localization of a human pseudogene for hexokinase II. Gene. 1995 Oct 10/27/1995; 164(2): 357-61. PMID: 7590357, PII: 037811199500449G, ISSN: 0378-1119.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7590357.
  • Campbell PW, Phillips JA, Heidecker GJ, Krishnamani MR, Zahorchak R, Stull TL. Detection of Pseudomonas (Burkholderia) cepacia using PCR. Pediatr. Pulmonol. 1995 Jul; 20(1): 44-9. PMID: 7478781, ISSN: 8755-6863.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7478781.
  • Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW, Phillips JA. Teaching about cystic fibrosis carrier screening by using written and video information. Am. J. Hum. Genet. 1995 Jul; 57(1): 171-81. PMID: 7611285, PMCID: PMC1801248, ISSN: 0002-9297.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7611285.
  • Loyd JE, Butler MG, Foroud TM, Conneally PM, Phillips JA, Newman JH. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am. J. Respir. Crit. Care Med. 1995 Jul; 152(1): 93-7. PMID: 7599869, DOI: 10.1164/ajrccm.152.1.7599869, ISSN: 1073-449X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7599869.
  • Cogan, J.D., Ramel, B., Lehto, M., Phillips, J.A. III, Prince, M., Blizzard, M., deRavel, T.J.L., Brammert, M. and Groop, L. A recurring dominant-negative mutation causes autosomal dominant growth hormone deficiency. J. Clin. Endocrinol. & Metab. 1995; 80: 3591-5.
  • Sierra-Rivera E, Summar ML, Dasouki M, Krishnamani MR, Phillips JA, Freeman ML. Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6. Cytogenet. Cell Genet. 1995; 70(3-4): 278-9. PMID: 7789189, ISSN: 0301-0171.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7789189.
  • Summar ML, Dasouki MJ, Schofield PJ, Krishnamani MR, Vnencak-Jones C, Tuchman M, Mao J, Phillips JA. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Cytogenet. Cell Genet. 1995; 71(3): 266-7. PMID: 7587391, ISSN: 0301-0171.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7587391.
  • Yoshida H, Kakuchi J, Yoshikawa N, Saruta T, Inagami T, Phillips JA, Ichikawa I. Angiotensin II type 1 receptor gene abnormality in a patient with Bartter's syndrome. Kidney Int. 1994 Dec; 46(6): 1505-9. PMID: 7699991, ISSN: 0085-2538.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7699991.
  • Cogan JD, Phillips JA, Schenkman SS, Milner RD, Sakati N. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J. Clin. Endocrinol. Metab. 1994 Nov; 79(5): 1261-5. PMID: 7962317, DOI: 10.1210/jcem.79.5.7962317, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7962317.
  • Pérez Jurado LA, Phillips JA, Summar ML, Mao J, Weber JL, Schaefer FV, Hazan J, Argente J. Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification. Genomics. 1994 Mar 3/1/1994; 20(1): 132-4. PMID: 8020943, PII: S0888754384711402, ISSN: 0888-7543.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8020943.
  • Parker RA, Phillips JA. Population screening for carrier status: effects of test limitations on precision of carrier prevalence rates. Am. J. Med. Genet. 1994 Feb 2/1/1994; 49(3): 317-22. PMID: 8209893, DOI: 10.1002/ajmg.1320490315, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8209893.
  • Phillips JA, Cogan JD. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J. Clin. Endocrinol. Metab. 1994 Jan; 78(1): 11-6. PMID: 8288694, DOI: 10.1210/jcem.78.1.8288694, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8288694.
  • Phillips JA. DNA mapping in growth and developmental disorders. Horm. Res. 1994; 41(5-6): 157-68. PMID: 7959616, ISSN: 0301-0163.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/7959616.
  • Krishnamani MR, Phillips JA, Copeland KC. Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. J. Clin. Endocrinol. Metab. 1993 Sep; 77(3): 596-8. PMID: 8370681, DOI: 10.1210/jcem.77.3.8370681, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8370681.
  • Raskin S, Phillips JA, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am. J. Med. Genet. 1993 Jul 7/1/1993; 46(6): 665-9. PMID: 8362909, DOI: 10.1002/ajmg.1320460612, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8362909.
  • Cogan JD, Phillips JA, Sakati N, Frisch H, Schober E, Milner RD. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J. Clin. Endocrinol. Metab. 1993 May; 76(5): 1224-8. PMID: 8496314, DOI: 10.1210/jcem.76.5.8496314, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/8496314.
  • Hannig VL, Erickson SM, Phillips JA. Utilization and evaluation of living-related donors for patients with adult polycystic kidney disease. Am. J. Med. Genet. 1992 Nov 11/1/1992; 44(4): 409-12. PMID: 1442877, DOI: 10.1002/ajmg.1320440404, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1442877.
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C. Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots. PCR Methods Appl. 1992 Nov; 2(2): 154-6. PMID: 1362128, ISSN: 1054-9803.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1362128.
  • Campbell PW, Phillips JA. The cystic fibrosis gene and relationships to clinical status. Semin Respir Infect. 1992 Sep; 7(3): 150-7. PMID: 1475539, ISSN: 0882-0546.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1475539.
  • Phillips JA. Molecular biology of growth hormone receptor dysfunction. Acta Paediatr Suppl. 1992 Sep; 383: 127-31. PMID: 1458007, ISSN: 0803-5326.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1458007.
  • Raskin S, Phillips JA, Vnencak-Jones C, Dawson E, Kaplan G, McClure M. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. BioTechniques. 1992 Sep; 13(3): 372-4. PMID: 1382468, ISSN: 0736-6205.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1382468.
  • Kamijo T, Phillips JA. Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J. Clin. Endocrinol. Metab. 1992 Apr; 74(4): 786-9. PMID: 1548341, DOI: 10.1210/jcem.74.4.1548341, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1548341.
  • Campbell PW, Parker RA, Roberts BT, Krishnamani MR, Phillips JA. Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion. J. Pediatr. 1992 Feb; 120(2 Pt 1): 261-4. PMID: 1735823, ISSN: 0022-3476.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1735823.
  • Wampler GL, Ahlgren JD, Lokich JJ, Gullo JJ, Phillips JA. Dichloromethotrexate, infusional cisplatin, and infusional 5-fluorouracil for locally advanced or metastatic non-small cell lung cancer. A MAOP study. Am. J. Clin. Oncol. 1991 Oct; 14(5): 442-5. PMID: 1659178, ISSN: 0277-3732.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1659178.
  • Hannig VL, Hopkins JR, Johnson HK, Phillips JA, Reeders ST. Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors. Am. J. Med. Genet. 1991 Sep 9/15/1991; 40(4): 425-8. PMID: 1746605, DOI: 10.1002/ajmg.1320400409, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1746605.
  • Robertson D, Haile V, Perry SE, Robertson RM, Phillips JA, Biaggioni I. Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension. 1991 Jul; 18(1): 1-8. PMID: 1677640, ISSN: 0194-911X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1677640.
  • Perry SE, Summar ML, Phillips JA, Robertson D. Linkage analysis of the human dopamine beta-hydroxylase gene. Genomics. 1991 Jun; 10(2): 493-5. PMID: 2071155, PII: 0888-7543(91)90339-G, ISSN: 0888-7543.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2071155.
  • Hannig VL, Phillips JA. Maternal cocaine abuse and fetal anomalies: evidence for teratogenic effects of cocaine. South. Med. J. 1991 Apr; 84(4): 498-9. PMID: 2014437, ISSN: 0038-4348.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2014437.
  • Perry SE, Phillips JA, Robertson D. FnuD II RFLP at the human dopamine-beta-hydroxylase (D beta H) locus. Nucleic Acids Res. 1991 Mar 3/11/1991; 19(5): 1162. PMID: 1673558, PMCID: PMC333814, ISSN: 0305-1048.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1673558.
  • Campbell PW, Phillips JA, Krishnamani MR, Maness KJ, Hazinski TA. Cystic fibrosis: relationship between clinical status and F508 deletion. J. Pediatr. 1991 Feb; 118(2): 239-41. PMID: 1993951, ISSN: 0022-3476.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1993951.
  • Kamijo T, Phillips JA, Ogawa M, Yuan L, Shi Y, Bao XL. Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency. J. Pediatr. 1991 Feb; 118(2): 245-8. PMID: 1993953, ISSN: 0022-3476.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1993953.
  • Vnencak-Jones CL, Phillips JA. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science. 1990 Dec 12/21/1990; 250(4988): 1745-8. PMID: 1980158, ISSN: 0036-8075.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1980158.
  • Phillips JA. Diagnosis at the bedside by gene analysis. South. Med. J. 1990 Aug; 83(8): 868-75. PMID: 2200134, ISSN: 0038-4348.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2200134.
  • Summar ML, Phillips JA, Battey J, Castiglione CM, Kidd KK, Maness KJ, Weiffenbach B, Gravius TC. Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Mol. Endocrinol. 1990 Jun; 4(6): 947-50. PMID: 1978246, DOI: 10.1210/mend-4-6-947, ISSN: 0888-8809.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/1978246.
  • Vnencak-Jones CL, Phillips JA, Wang DF. Use of polymerase chain reaction in detection of growth hormone gene deletions. J. Clin. Endocrinol. Metab. 1990 Jun; 70(6): 1550-3. PMID: 2347891, DOI: 10.1210/jcem-70-6-1550, ISSN: 0021-972X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2347891.
  • Ulm JE, Shah DM, Dev VG, Phillips JA. Counseling and decision dilemmas associated with fetal blood sampling. Am. J. Med. Genet. 1990 Jan; 35(1): 75-8. PMID: 2301473, DOI: 10.1002/ajmg.1320350114, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2301473.
  • Vnencak-Jones, C.L. and Phillips, J.A. III. Non Alu sequences constitute hot spots for human growth hormone gene deletions. Science. 1990; 250: 1745-8.
  • Summar ML, Phillips JA, Krishnamani MR, Keefer J, Trofatter J, Schwartz RC, Tsipouras P, Willard H, Ullrich A. Protein kinase C: a new linkage marker for growth hormone and for COL1A1. Genomics. 1989 Jul; 5(1): 163-5. PMID: 2570026, PII: 0888-7543(89)90104-3, ISSN: 0888-7543.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2570026.
  • Fenichel GM, Phillips JA. Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance. Arch. Neurol. 1989 May; 46(5): 582-3. PMID: 2469415, ISSN: 0003-9942.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2469415.
  • Phillips JA, Vnencak-Jones CL. Genetics of growth hormone and its disorders. Adv. Hum. Genet. 1989; 18: 305-63. PMID: 2567109, ISSN: 0065-275X.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2567109.
  • Whitlock JA, Janco RL, Phillips JA. Inherited hypercoagulable states in children. Am J Pediatr Hematol Oncol. 1989; 11(2): 170-3. PMID: 2526603, ISSN: 0192-8562.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2526603.
  • Phillips JA, Hoult JR. Secretory effects of kinins on colonic epithelium in relation to prostaglandins released from cells of the lamina propria. Br. J. Pharmacol. 1988 Nov; 95(3): 701-12. PMID: 3207989, PMCID: PMC1854219, ISSN: 0007-1188.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/3207989.
  • Vnencak-Jones CL, Phillips JA, Chen EY, Seeburg PH. Molecular basis of human growth hormone gene deletions. Proc. Natl. Acad. Sci. U.S.A. 1988 Aug; 85(15): 5615-9. PMID: 2840669, PMCID: PMC281810, ISSN: 0027-8424.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2840669.
  • Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA. Two patients with ring chromosome 15 syndrome. Am. J. Med. Genet. 1988 Jan; 29(1): 149-54. PMID: 3278612, DOI: 10.1002/ajmg.1320290119, ISSN: 0148-7299.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/3278612.
  • Repaske DR, Phillips JA. Application of molecular genetics to pediatric gynecology. Clin Obstet Gynecol. 1987 Sep; 30(3): 762-75. PMID: 3308263, ISSN: 0009-9201.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/3308263.
  • Phillips JA. Gene diagnosis: detection of genetic disorders by DNA analysis. Birth Defects Orig. Artic. Ser. 1987; 23(3): 259-95. PMID: 2888498, ISSN: 0547-6844.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/2888498.
  • Kazazian HH, Phillips JA, Boehm CD, Vik TA, Mahoney MJ, Ritchey AK. Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood. 1980 Nov; 56(5): 926-30. PMID: 6252993, ISSN: 0006-4971.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/6252993.
  • Phillips JA. Prenatal diagnosis of sickle cell anemia and beta-thalassemia by amniocentesis. Tex. Rep. Biol. Med. 1980; 40: 261-72. PMID: 6275566, ISSN: 0040-4675.
    Available from: http://www.ncbi.nlm.nih.gov/pubmed/6275566.