.

Department of Pathology, Microbiology, and Immunology

 

 

   John A. Phillips III, M.D.

 

Professor
Dept of Pediatrics
Dept of Biochemistry
Dept of Pathology, Microbiology and Immunology Dept of Medicine

 

 

 

  Contact Information

 

 

     Office Location
 
   T-2416 MCN 

    Campus Mail address:
    Dept of Pediatrics
    DD-2205 MCN (2578)

 

US Mailing address:

Vanderbilt University School of Medicine

Dept of Pediatrics

DD-2205 MCN

Nashville, TN 37232-2578

Phone: 615-322-7602

E-mail: john.a.phillips@vanderbilt.edu

Lab Url: http://www.mc.vanderbilt.edu/cgi-bin/ebl/research.cgi 

 

 

 

 

Education

 

 

M.D., Bowman Gray School of Medicine

 

 

Research Keywords

 

 

disabilities, Down syndrome

 

 

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., Nov 26, 2003

Ryther, RC, Flynt, AS, Phillips, JA, Patton, JG. siRNA therapeutics: big potential from small RNAs. Gene Ther, 12(1), 5-11, 2005

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, 7(3), 169-74, 2005

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

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 , 7, 169-174, 2005

Lane, KB, Blackwell, TR, Runo, J, Wheeler, L, Phillips, JA, Loyd, JE. Aberrant signal transduction in pulmonary hypertension. Chest, 128(6 Suppl), 564S-565S, 2005

Garland, EM, Winker, R, Williams, SM, Jiang, L, Stanton, K, Byrne, DW, Biaggioni, I, Cascorbi, I, Phillips, JA, Harris, PA, R??diger, H, Robertson, D. Endothelial NO synthase polymorphisms and postural tachycardia syndrome. Hypertension, 46(5), 1103-10, 2005

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, 57(1), 28-38, 2004

Phillips, JA. Genetics of growth retardation. J Pediatr Endocrinol Metab, 17 Suppl 3, 385-99, 2004

Ryther, Robin C. C., Flynt, Alex S., Harris, Bryan D., Phillips, John A., Patton, James G.. GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific siRNA. Endocrinology, 2004

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 , 57, 28-38, 2004

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, 59(11), 977-80, 2004

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, 114(4), e532-5, 2004

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, 43(12 Suppl S), 33S-39S, 2004

Potter, A, Hannig, V, Phillips, JA. The role of genetics in pediatric endocrinology. Pediatr Endocrinol Rev, 1(3), 262-73, 2004

Ryther, Robin C C, McGuinness, Lindsay M, Phillips, John A, Moseley, Chanda T, Magoulas, Charalambos B, Robinson, Iain C A F, Patton, James G. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. Hum Genet, 113(2), 140-8, 2003

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, 144, 720-731, 2003

Runo, James R, Vnencak-Jones, Cindy L, Prince, Melissa, Loyd, James E, Wheeler, Lisa, Robbins, Ivan M, Lane, Kirk B, Newman, John H, Johnson, Joyce, Nichols, William C, Phillips, John A. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med, 167(6), 889-94, 2003

Phillips, John A. Dominant-negative diabetes insipidus and other endocrinopathies. J Clin Invest, 112(11), 1641-3, 2003

Luka, Zigmund, Cerone, Roberto, Phillips, John A, Mudd, Harvey S, Wagner, Conrad. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet, 110(1), 68-74, 2002

Moseley, Chanda T, Orenstein, Matthew D, Phillips, John A. GH Gene Deletions and IGHD type IA. Rev Endocr Metab Disord, 3(4), 339-46, 2002

Thomas, Alan Q, Carneal, Jennifer, Markin, Cheryl, Lane, Kirk B, Phillips, John A, Loyd, James E, Gaddipati, Radhika. Specific bone morphogenic protein receptor II mutations found in primary pulmonary hypertension cause different biochemical phenotypes in vitro. Chest, 121(3 Suppl), 83S, 2002

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 , 165, 1322-1328, 2002

, pp 2135-2182, 2002

Thomas, Alan Q, Carneal, Jennifer, Markin, Cheryl, Lane, Kirk B, Phillips, John A, Loyd, James E. Allelic imbalance demonstrated by microsatellite analysis of lung samples from patients with familial pulmonary fibrosis. Chest, 121(3 Suppl), 25S, 2002

Phillips, John A. Mutations of the GH gene. J Pediatr Endocrinol Metab, 15 Suppl 5, 1435-6, 2002

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., 87(J.Clin.Endocrinol. Metab.), 847-852, 2002

Moseley, Chanda T, Mullis, Primus E, Prince, Melissa A, Phillips, John A. An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab, 87(2), 847-52, 2002

Marney, A, Lane, K B, Phillips, J A, Riley, D J, Loyd, J E. Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families. Chest, 120(1 Suppl), 56S, 2001

Newman, J H, Wheeler, L, Lane, K B, Loyd, E, Gaddipati, R, Phillips, J A, 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, 345(5), 319-24, 2001

Phillips, J A. msJAMA. Genomic medicine: managing the complexity. JAMA, 286(13), 1639, 2001

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

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., 345, 319-324, 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., 68, 92-102, 2001

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., 54, 681-687, 2001

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., 86, 273-279, 2001

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 , 3, 132-138, 2001

Lane, K B, Machado, R D, Pauciulo, M W, Thomson, J R, Phillips, J A, Loyd, J E, Nichols, W C, Trembath, R C. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet, 26(1), 81-4, 2000

Skordis, N, Patsalis, P C, Hettinger, J A, Kontou, M, Herakleous, E, Krishnamani, M R, Phillips, J A. A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.. Horm Res, 53(5), 239-45, 2000

Moseley, C T, Phillips, J A. Pituitary gene mutations and the growth hormone pathway. Semin Reprod Med, 18(1), 21-9, 2000

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, 4159-4180, 2000

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, 36, 2-6, 2000

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 , 26, 81-84, 2000

Nishimura, H, Yerkes, E, Hohenfellner, K, Miyazaki, Y, Ma, J, Hunley, T E, Yoshida, H, Ichiki, T, Threadgill, D, Phillips, J A, Hogan, B M, Fogo, A, Brock, J W, 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, 3(1), 1-10, 1999

Raskin, S, Phillips, J A, Kaplan, G, McClure, M, Vnencak-Jones, C, Rozov, T, Cardieri, J M, Marostica, P, Abreu, F, Giugliani, R, Reis, F, Rosario, N A, 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, 71(1), 111-21, 1999

Phillips, J A, Hamid, R. Human mutations and their detection by gene and linkage analysis, allele sharing and association methods. East Mediterr Health J, 5(6), 1140-6, 1999

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., 84, 917-923, 1999

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 , 3, 1-10, 1999

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 , 285, 1359-1361, 1999

Phillips, J A, Prince, M A. Applications of new genetic approaches to growth hormone-releasing hormone receptor defects. Growth Horm IGF Res, 9 Suppl A, 45-9, 1999

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 , 18, 147-149, 1998

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., 83, 3346-3349, 1998

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 , 7, 1491-1496, 1998

McCarthy, E M, Phillips, J A. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.. Hum Mol Genet, 7(9), 1491-6, 1998

Dasouki, M J, Cogan, J, Summar, M L, Neblitt, W, Foroud, T, Koller, D, Phillips, J A. Heterogeneity in hereditary pancreatitis. Am J Med Genet, 77(1), 47-53, 1998

Cogan, J D, Phillips, J A. Growth disorders caused by genetic defects in the growth hormone pathway. Adv Pediatr, 45, 337-61, 1998

Cogan, J D, Wu, W, Phillips, J A, Arnhold, I J, Agapito, A, Fofanova, O V, Osorio, M G, Bircan, I, Moreno, A, Mendonca, B B. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab, 83(9), 3346-9, 1998

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 , 15, 277-280, 1997

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., 6, 909-912, 1997

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, 82, 51-56, 1997

Williams, J B, Rexer, B, Sirripurapu, S, John, S, Goldstein, R, Phillips, J A, Haley, L L, Sait, S N, Shows, T B, Smith, C M, Gerhard, D S. 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, 42(2), 325-30, 1997

Endsley, J K, Phillips, J A, Hruska, K A, Denneberg, T, Carlson, J, George, A L. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int, 51(6), 1893-9, 1997

Loyd, J E, Slovis, B, Phillips, J A, Butler, M G, Foroud, T M, Conneally, P M, Newman, J H. The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest, 111(6 Suppl), 82S-83S, 1997

Dasouki, M, Jurecic, V, Phillips, J A, Whitlock, J A, Baldini, A. DiGeorge anomaly and chromosome 10p deletions: one or two loci. Am J Med Genet, 73(1), 72-5, 1997

Raskin, S, Phillips, J A, Krishnamani, M R, Vnencak-Jones, C, Parker, R A, Rozov, T, Cardieri, J M, Marostica, P, Abreu, F, Giugliani, R, Reis, F, Rosario, N A, Ludwig, N, Culpi, L. Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. Hum Biol, 69(4), 499-508, 1997

Cogan, J D, Prince, M A, Lekhakula, S, Bundey, S, Futrakul, A, McCarthy, E M, Phillips, J A. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum Mol Genet, 6(6), 909-12, 1997

Miyata, I, Cogan, J D, Prince, M A, Kamijo, T, Ogawa, M, Phillips, J A. Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). Endocr J, 44(1), 149-54, 1997

Raskin, S, Cogan, J D, Summar, M L, Moreno, A, Krishnamani, M R, Phillips, J A. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.. Hum Genet, 98(6), 703-5, 1996

Sierra-Rivera, E, Dasouki, M, Summar, M L, Krishnamani, M R, Meredith, M, Rao, P N, Phillips, J A, Freeman, M L. Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. Cytogenet Cell Genet, 72(2-3), 252-4, 1996

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 , 49, 571-77, 1996

Hunley, T E, Julian, B A, Phillips, J A, Summar, M L, Yoshida, H, Horn, R G, Brown, N J, Fogo, A, Ichikawa, I, Kon, V. Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy. Kidney Int, 49(2), 571-7, 1996

Clayton, E W, Hannig, V L, Pfotenhauer, J P, Parker, R A, Campbell, P W, Phillips, J A. Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet, 58(3), 617-27, 1996

Hill, K E, Dasouki, M, Phillips, J A, Burk, R F. Human selenoprotein P gene maps to 5q31. Genomics, 36(3), 550-1, 1996

Summar, M L, Dasouki, M J, Schofield, P J, Krishnamani, M R, Vnencak-Jones, C, Tuchman, M, Mao, J, Phillips, J A. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Cytogenet Cell Genet, 71(3), 266-7, 1995

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, 80, 3591-3595, 1995

Sierra-Rivera, E, Summar, M L, Dasouki, M, Krishnamani, M R, Phillips, J A, Freeman, M L. Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6. Cytogenet Cell Genet, 70(3-4), 278-9, 1995

Campbell, P W, Phillips, J A, Heidecker, G J, Krishnamani, M R, Zahorchak, R, Stull, T L. Detection of Pseudomonas (Burkholderia) cepacia using PCR. Pediatr Pulmonol, 20(1), 44-9, 1995

Loyd, J E, Butler, M G, Foroud, T M, Conneally, P M, Phillips, J A, Newman, J H. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med, 152(1), 93-7, 1995

Ardehali, H, Printz, R L, Koch, S, Phillips, J A, Granner, D K. Isolation, characterization and chromosomal localization of a human pseudogene for hexokinase II. Gene, 164(2), 357-61, 1995

Clayton, E W, Hannig, V L, Pfotenhauer, J P, Parker, R A, Campbell, P W, Phillips, J A. Teaching about cystic fibrosis carrier screening by using written and video information. Am J Hum Genet, 57(1), 171-81, 1995

P??rez Jurado, L A, Phillips, J A, Summar, M L, Mao, J, Weber, J L, Schaefer, F V, Hazan, J, Argente, J. Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification. Genomics, 20(1), 132-4, 1994

Yoshida, H, Kakuchi, J, Yoshikawa, N, Saruta, T, Inagami, T, Phillips, J A, Ichikawa, I. Angiotensin II type 1 receptor gene abnormality in a patient with Bartter's syndrome. Kidney Int, 46(6), 1505-9, 1994

Phillips, J A, Cogan, J D. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab, 78(1), 11-6, 1994

Phillips, J A. DNA mapping in growth and developmental disorders. Horm Res, 41(5-6), 157-68, 1994

Cogan, J D, Phillips, J A, Schenkman, S S, Milner, R D, Sakati, N. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.. J Clin Endocrinol Metab, 79(5), 1261-5, 1994

Parker, R A, Phillips, J A. Population screening for carrier status: effects of test limitations on precision of carrier prevalence rates. Am J Med Genet, 49(3), 317-22, 1994

Krishnamani, M R, Phillips, J A, Copeland, K C. Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. J Clin Endocrinol Metab, 77(3), 596-8, 1993

Raskin, S, Phillips, J A, Krishnamani, M R, Vnencak-Jones, C, Parker, R A, Rozov, T, Cardieri, J M, Marostica, P, Abreu, F, Giugliani, R. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am J Med Genet, 46(6), 665-9, 1993

Cogan, J D, Phillips, J A, Sakati, N, Frisch, H, Schober, E, Milner, R D. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab, 76(5), 1224-8, 1993

Raskin, S, Phillips, J A, Vnencak-Jones, C, Dawson, E, Kaplan, G, McClure, M. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. Biotechniques, 13(3), 372-4, 1992

Phillips, J A. Molecular biology of growth hormone receptor dysfunction. Acta Paediatr Suppl, 383, 127-31, 1992

Raskin, S, Phillips, J A, Kaplan, G, McClure, M, Vnencak-Jones, C. Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots. PCR Methods Appl, 2(2), 154-6, 1992

Campbell, P W, Phillips, J A. The cystic fibrosis gene and relationships to clinical status. Semin Respir Infect, 7(3), 150-7, 1992

Hannig, V L, Erickson, S M, Phillips, J A. Utilization and evaluation of living-related donors for patients with adult polycystic kidney disease. Am J Med Genet, 44(4), 409-12, 1992

Campbell, P W, Parker, R A, Roberts, B T, Krishnamani, M R, Phillips, J A. 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, 120(2 Pt 1), 261-4, 1992

Kamijo, T, Phillips, J A. Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab, 74(4), 786-9, 1992

Wampler, G L, Ahlgren, J D, Lokich, J J, Gullo, J J, Phillips, J A. Dichloromethotrexate, infusional cisplatin, and infusional 5-fluorouracil for locally advanced or metastatic non-small cell lung cancer. A MAOP study.. Am J Clin Oncol, 14(5), 442-5, 1991

Campbell, P W, Phillips, J A, Krishnamani, M R, Maness, K J, Hazinski, T A. Cystic fibrosis: relationship between clinical status and F508 deletion. J Pediatr, 118(2), 239-41, 1991

Hannig, V L, Hopkins, J R, Johnson, H K, Phillips, J A, Reeders, S T. Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors. Am J Med Genet, 40(4), 425-8, 1991

Robertson, D, Haile, V, Perry, S E, Robertson, R M, Phillips, J A, Biaggioni, I. Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension, 18(1), 1-8, 1991

Perry, S E, Summar, M L, Phillips, J A, Robertson, D. Linkage analysis of the human dopamine beta-hydroxylase gene. Genomics, 10(2), 493-5, 1991

Perry, S E, Phillips, J A, Robertson, D. FnuD II RFLP at the human dopamine-beta-hydroxylase (D beta H) locus. Nucleic Acids Res, 19(5), 1162, 1991

Hannig, V L, Phillips, J A. Maternal cocaine abuse and fetal anomalies: evidence for teratogenic effects of cocaine. South Med J, 84(4), 498-9, 1991

Kamijo, T, Phillips, J A, Ogawa, M, Yuan, L, Shi, Y, Bao, X L. Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency. J Pediatr, 118(2), 245-8, 1991

Ulm, J E, Shah, D M, Dev, V G, Phillips, J A. Counseling and decision dilemmas associated with fetal blood sampling. Am J Med Genet, 35(1), 75-8, 1990

Phillips, J A. Diagnosis at the bedside by gene analysis. South Med J, 83(8), 868-75, 1990

Vnencak-Jones, C L, Phillips, J A. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science, 250(4988), 1745-8, 1990

Vnencak-Jones, C L, Phillips, J A, Wang, D F. Use of polymerase chain reaction in detection of growth hormone gene deletions. J Clin Endocrinol Metab, 70(6), 1550-3, 1990

Vnencak-Jones, C.L. and Phillips, J.A. III. Non Alu sequences constitute hot spots for human growth hormone gene deletions. Science, 250, 1745-1748, 1990

Summar, M L, Phillips, J A, Battey, J, Castiglione, C M, Kidd, K K, Maness, K J, Weiffenbach, B, Gravius, T C. Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Mol Endocrinol, 4(6), 947-50, 1990

Phillips, J A, Vnencak-Jones, C L. Genetics of growth hormone and its disorders. Adv Hum Genet, 18, 305-63, 1989

Fenichel, G M, Phillips, J A. Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance. Arch Neurol, 46(5), 582-3, 1989

Whitlock, J A, Janco, R L, Phillips, J A. Inherited hypercoagulable states in children.. Am J Pediatr Hematol Oncol, 11(2), 170-3, 1989

Summar, M L, Phillips, J A, Krishnamani, M R, Keefer, J, Trofatter, J, Schwartz, R C, Tsipouras, P, Willard, H, Ullrich, A. Protein kinase C: a new linkage marker for growth hormone and for COL1A1. Genomics, 5(1), 163-5, 1989

Vnencak-Jones, C L, Phillips, J A, Chen, E Y, Seeburg, P H. Molecular basis of human growth hormone gene deletions. Proc Natl Acad Sci U S A, 85(15), 5615-9, 1988

Phillips, J A, Hoult, J R. Secretory effects of kinins on colonic epithelium in relation to prostaglandins released from cells of the lamina propria.. Br J Pharmacol, 95(3), 701-12, 1988

Butler, M G, Fogo, A B, Fuchs, D A, Collins, F S, Dev, V G, Phillips, J A. Two patients with ring chromosome 15 syndrome. Am J Med Genet, 29(1), 149-54, 1988

Phillips, J A. Gene diagnosis: detection of genetic disorders by DNA analysis. Birth Defects Orig Artic Ser, 23(3), 259-95, 1987

Repaske, D R, Phillips, J A. Application of molecular genetics to pediatric gynecology. Clin Obstet Gynecol, 30(3), 762-75, 1987

Kazazian, H H, Phillips, J A, Boehm, C D, Vik, T A, Mahoney, M J, Ritchey, A K. Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.. Blood, 56(5), 926-30, 1980

Phillips, J A. Prenatal diagnosis of sickle cell anemia and beta-thalassemia by amniocentesis.. Tex Rep Biol Med, 40, 261-72, 1980