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
