John A. Phillips, III, M.D.

Professor

john.a.phillips@vanderbilt.edu

Visit Lab Site


Faculty Appointments
Director, Division of Medical Genetics Professor of Pediatrics Adjunct Professor of Pediatrics at Meharry Medical CollegeDavid T. Karzon Chair in PediatricsProfessor of Pathology, Microbiology and ImmunologyProfessor of Medicine
Education
M.D., MEDICINE, Wake Forest University, Winston-Salem, North Carolina
Office Address
DD-2205 MCN
TN 2578
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.





Research Keywords
Molecular investigations of familial disorders
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.

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.

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.

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.

Ryther, RCC, Flynt, AS, Phillips, JA III, and Patton, JG. SiRNA therapeutics: big potential from small RNAs. Gene Therapy. 2005; 12: 5-11.

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.

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.

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.

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.

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.

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.

Phillips JA. Genetics of growth retardation. J. Pediatr. Endocrinol. Metab. 2004 Mar; 17 Suppl 3: 385-99. PMID: 15134299, ISSN: 0334-018X.

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.

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.

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.

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.

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.

Phillips JA. Mutations of the GH gene. J. Pediatr. Endocrinol. Metab. 2002 Dec; 15 Suppl 5: 1435-6. PMID: 12511001, ISSN: 0334-018X.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Dawson, E.T. and Phillips, J.A. III. Method for determining polynucleotide sequence variations. United States Patent # 6, 322,988 B1, Nov 27. 2001.

, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Phillips JA. DNA mapping in growth and developmental disorders. Horm. Res. 1994; 41(5-6): 157-68. PMID: 7959616, ISSN: 0301-0163.

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.

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.

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.

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.

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.

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.

Phillips JA. Molecular biology of growth hormone receptor dysfunction. Acta Paediatr Suppl. 1992 Sep; 383: 127-31. PMID: 1458007, ISSN: 0803-5326.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Phillips JA. Diagnosis at the bedside by gene analysis. South. Med. J. 1990 Aug; 83(8): 868-75. PMID: 2200134, ISSN: 0038-4348.

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.

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.

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.

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.

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.

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.

Phillips JA, Vnencak-Jones CL. Genetics of growth hormone and its disorders. Adv. Hum. Genet. 1989; 18: 305-63. PMID: 2567109, ISSN: 0065-275X.

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.

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.

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.

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.

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.

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.

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.