John APhillips IIIMD

PubMed

• 4 citations
  De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
  Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton
  Nature. 2024-08-01
• 2 citations
  variants in the non-coding spliceosomal snRNA geneare a frequent cause of syndromic neurodevelopmental disorders.
  Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker
  Medrxiv. 2024-04-09
• 5 citations
  Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused byKCNC2 variants.
  Souhrid Mukherjee, Thomas A Cassini, Ningning Hu, Tao Yang, Bian Li
  HGG Advances. 2022-10-13

Journal Articles

• SHC2 gene copy number in multiple system atrophy (MSA)  
  Ferguson MC, Garland EM, Hedges L, Womack-Nunley B, Hamid R, Phillips JA III, Shibao C, Raj S, Biaggioni I, Robertson D, Clin Auton Res., 2/24/2014
• Expansion of genetic services utilizing a general genetics counseling clinic  
  Hannig VL, Cohen MP, Pfotenhauer JP, Williams MD, Morgan TM, Phillips JA III, J Genet Couns, 1/1/2014
• Mutations in PGAP3 impair GPI-anchor maturation, causing a new subtype of hyperphosphatasia with mental retardation  
  Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, David A. Keays DA, Knight SJL, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phi..., Amer J Hum Genet, 1/1/2014
• Variable Expressivity and Clinical Heterogeneity Can Complicate the Diagnosis and Management of Pfeiffer Syndrome  
  Ettinger N, Williams M, Phillips JA III, J Craniofacial Surgery, 1/1/2013
• Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)  
  Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA III, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunne..., Am J Med Genet A, 3/1/2012
• Genetic Approach to Evaluation of Hearing Loss  
  Cohen M, Phillips JA III, Otolaryngologic Clinics of North America, 1/1/2012
• Genotype-Phenotype correlations of rare 17q242 microdeletions  
  Vergult S, Dauber A, Oudenhove EV, Chiaie BD, Simon M, Rihani A, Loeys B, Hirschhorn J, Holm I, Pfotenhauer J, Phillips JA III, Mohammed S, Ogilvie C, Mortier G & ..., Eur J Hum Genet, 1/1/2012
• Telomerase deficiency does not alter bleomycin induced fibrosis in mice  
  Degryse AL, Xu XC, Newman JL, Mitchell DB, Tanjore H, Polosukhin VV, Jones BR, McMahon FB, Gleaves LA, Phillips JA III, Cogan JD, Blackwell TS, Lawson WE, Exp. Lung Res, 1/1/2012
• A Single Nucleotide Polymorphism of the Cholecystokinin-B Receptor Predicts Risk for Pancreatic Cancer  
  Smith J, Harms J, Matters G, McGovern C, Ruggiero F, Liao J, Fino K, Ortega E, Gilius E, and Phillips JA III, Cancer Biol Ther, 1/1/2012
• BMPR2 expression is suppressed by signaling through the estrogen receptor  
  Austin ED, Hamid R, Hemnes AR, Loyd JE, Blackwell T, Yu C, Phillips JA III MD, Gaddipati R, Gladson S, West J, Lane KB, Biol of Sex Differences, 1/1/2012
• Small rare recurrent deletions and reciprocal duplications in 2q211, including brain specific ARHGEF4 and GPR148  
  Dharmadhikari AV, Kang S-HL, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA III, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Cr..., Human Molecular Genetics, 1/1/2012
• Longitudinal Analysis Casts Doubt on the Presence of Genetic Anticipationin Heritable Pulmonary Arterial Hypertension  
  Larkin EK, Newman JH, Austin ED, Hemnes AR, Wheeler L, Robbins IM, West JD, Phillips III JA III, Hamid R, Loyd JE, Amer J of Resp and Crit Care Med, 1/1/2012
• Chasing Pulmonary Hypertension: 1980-2012  
  Newman, JH; Loyd JE, Hemnes A, West J, Austin E, Fessel J, Hamid R, Phillips JA III, Advances in Pulmonary Hypertension, 1/1/2012
• Decreased dyskerin levels are a novel mechanism of telomere shortening in X-linked dyskeratosis congenita  
  Parry EM, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, Armanios M, J Med Genet, 1/1/2011
• Pharmacologic correction of dominant-negative GH1 deficiency causing mutations  
  Poling J, Phillips JA III, Cogan JD, Hamid R, Clinical and Translational Science, 1/1/2011
• Ancestral mutation in telomerase leads to defects in repeat addition processivity and familial pulmonary fibrosis  
  Alder JK, Cogan JD, Brown AF, Anderson CJ, Lansdorp PM, Phillips JA3rd, Loyd JE, Chen JJ-L, Armanios MY, PLoS Genetics, 1/1/2011
• 22q133 deletion syndrome: clinical and molecular analysis using array CGH  
  Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA I..., Am J Med Genet, 1/1/2010
• Transcripts from a novel BMPR2 PTC mutation escape NMD by downstream translation re-initiation: implications for PAH therapy  
  Hamid R, Hedges LK, Austin E, Phillips JA III, Loyd JE, and Cogan JD, Clinical Genetics, 1/1/2010
• Identification of a Recurrent Microdeletion at 17q231q232 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities  
  Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL,2,4 Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine ..., Amer J Human Genetics, 1/1/2010
• Alterations in estrogen metabolism: implications for higher penetrance of FPAH in females  
  Austin ED, Cogan JD, West JD, Hedges LK, Hamid R, Dawson EP, Wheeler LA, Parl FF, Loyd JE , and Phillips JA III, European Respiratory Journal, 4/8/2009
• The Enteropathy of Prostaglandin Deficiency  
  Adler DH, Cogan JD, Phillips JA III, Schnetz-Boutaud N, Milne G, Stein JA, Brenner DA, Morrow JD, Boutaud O and Oates JA, J Gastroenterol, 1/1/2009
• Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele  
  Hamid R, Cogan JD, Hedges LK, Phillips JA III, Newman JH, Loyd JE, Human Mutation, 1/1/2009
• A functional polymorphism in the monoamine oxidase A gene is associated with problem behavior in adults with intellectual/developmental disabilities  
  May ME, Souri, A, Hedges L, Phillips JA III, Light D, Blakely RD and Kennedy CH, American Journal Intellectual Development Disability, 1/1/2009
• A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II  
  Hamid R, Phillips JA III, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, and Patton JG, J Clin Endo & Metab, 1/1/2009
• Genetics and Genomics of Pulmonary Arterial Hypertension  
  Machado RD, Eickelberg O, Elliott G, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA III, Soubrier F, Trembath RC, Chung WK, J Amer College Card, 1/1/2009
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Books/Book Chapters

• Emery and Rimoin’s essential medical genetics. 
  Chapter: Heritable and idiopathic forms of pulmonary arterial hypertension. 
  Page 181 - 183Austin ED, Newman JH, Loyd JE, Phillips JA IIIEditors: Rimoin, DL, Pyeritz, RE and Korf, BR.Elsevier Inc2013
• Textbook of Pulmonary Vascular Disease 
  Chapter: Genetics of Familial and Idiopathic Pulmonary Arterial Hypertension 
  Page 997 - 1009Austin ED, Loyd JE, Phillips JA IIIEditors: Yuan JX-J, Garcia JGN, Hales CA, Rich S, Archer SL and West JB.2011
• Principles and Practice of Medical Genetics 
  Chapter: Genetic Disorders of the Pituitary Gland 
  Page 1889 - 1931Potter, A, Phillips, JA III and Rimoin, DLEditors: Rimoin, DL, Connor, JM, Pyeritz, RE and Korf, BR.Elsevier Inc.Edition 5th,2007
• Principles and Practice of Medical Genetics 
  Chapter: Primary pulmonary hypertension: familial pulmonary arterial hypertension and idiopathic pulmonary arterial hypertension 
  Page 1187 - 1199Newman, J.H., Loyd, J.E. and Phillips, J.A. IIIEditors: Emery and Rimoin.Edition 5th,2007
• Human Malformations and Related Anomalies 
  Chapter: Endocrine Organs 
  Page 1339 - 1358Potter, A and Phillips, JA IIIEditors: Stevenson, RE and Hall, J.2006
• Respiratory Genetics 
  Chapter: Pulmonary hypertension 
  Page 361 - 391J.E. Loyd, Newman, J.H. and Phillips, J.A. IIIEditors: Silverman, EK, Shapiro, SD, Lomas, DA and Weiss, ST.Hodder Arnold, London2005
• Molecular Genetics and Prenatal Diagnosis 
  Chapter: Molecular Genetics and Prenatal Diagnosis 
  Page 395 - 457Prior, TW, Milunsky, A, Vnencak-Jones, CL, Phillips, JA III and Prior, TWEditors: Milunsky, A.Johns Hopkins University PressEdition 5th,2004
• Pediatric Endocrinology: Mechanisms, Manifestations and Management 
  Chapter: Genetic Disorders in Pediatric Endocrinology 
  Page 1 - 23Potter, A and Phillips, JA IIIEditors: Pescovitz, OH and Eugster, E.Lippincott, Williams & Wilkins2004
• Pediatric Endocrinology 
  Chapter: Using the web to obtain information on genetic and hormone disorders 
  Page 923 - 933Phillips, J.A. IIIEditors: Lifshitz, F.Edition 4th,2003
• Encyclopedia of the Human Genome 
  Chapter: Endocrine disorders: hereditary. 
  Phillips, J.A. III2003
• Encyclopedia of the Human Genome 
  Chapter: Growth disorders: hereditary. 
  Phillips, J.A. III2003
• The NORD Guide to Rare Disorders 
  Chapter: Laron Dwarfism 
  Moseley, C. and Phillips, J.A. IIIEditors: Gruson, E..Lippincott, Williams & Wilkins2003
• In Proceedings of 3rd World Symposium on Pulmonary Arterial Hypertension 
  Chapter: Primary Pulmonary Hypertension is a Complex Disease 
  Phillips, J.A. III2003
• Principles of Molecular Medicine 
  Chapter: Growth Hormone Deficiency Disorders 
  Potter, A. and Phillips, J.A. IIIEditors: McPhaul, M..The Humana Press Inc.2003
• Molecular Diagnostics 
  Chapter: Molecular Mechanisms of Endocrine Disorders 
  Potter, A. and Phillips, J.A. IIIEditors: Coleman, W.B. and Tsongalis, G.J..The Humana Press Inc.2003
• Encyclopedia of Molecular Medicine 
  Chapter: Growth Hormone 
  Phillips, J.A. IIIEditors: Creighton, T..John Wiley & Sons2003
• Genetics in Endocrinology 
  Chapter: Molecular pathogenesis of pituitary failure. 
  Page 107 - 115Cogan, J. D. and Phillips, J. A. IIIEditors: Baxter, J.D..2002
• Emery and Rimoin’s Principles and Practice of Medical Genetics 
  Chapter: Genetic disorders of the pituitary gland. 
  Page 2135 - 2182Moseley, CT, Phillips, JA III and Rimoin, DLEditors: Rimoin, DL, Connor, JM and Pyeritz, RE.Edition 4th,2002
• Wiley Encyclopedia of Molecular Medicine 
  Chapter: Growth hormone. 
  Page 1514 - 1516Phillips, J.A. III2002
• The Metabolic and Molecular Bases of Inherited Disease 
  Chapter: Inherited defects in growth hormone synthesis and action. 
  Page 4159 - 4180Cogan, J.D. and Phillips, J.A. IIIEditors: Scriver, C.R., Beaudet, A.L., Valle, D. and Sly, W.S..McGraw-HillEdition 8th,2001
• Molecular and Cellular Basis of Pediatric Endocrinology. 
  Chapter: Molecular defects in the growth hormone axis. 
  Page 23 - 38Cogan, J.D. and Phillips, J.A. IIIEditors: Handwerger, S..Humana Press Inc.1999
• Executive Summary, World Symposium, Primary Pulmonary Hypertension 
  Chapter: Genetics of pulmonary hypertension. 
  Page 11 - 13Langleben, D., Newman, J.H., Elliott, C.G., Loyd, J.E., Morse, J.H., Phillips, J.A. III and Trembath, R.C.1999
• Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 
  Chapter: Molecular Genetics and Prenatal Diagnosis 
  Page 332 - 393Vnencak-Jones, C.L. and Phillips, J.A. IIIEditors: Milunsky, A..Johns Hopkins University Press, BaltimoreEdition 4th,1998
• Advances in Pediatrics. 
  Chapter: Growth Disorders Caused by Genetic Defects in the Growth Hormone Pathway. 
  Page 337 - 361Cogan, J.D. and Phillips, J.A. IIIEditors: Barness, L.A., DeVivo, D.C., Kaback, M.M., Morrow, G. III, Rudolph, A.M. and Tunnessen, W.W. Jr..Mosby, St. Louis1998
• Principles of Molecular Medicine. 
  Chapter: Growth hormone deficiency disorders. 
  Page 451 - 458Cogan, J.D. and Phillips, J.A. IIIEditors: Jameson, J.L..Humana Press, Totowa, NJ1998
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Abstracts/Posters

• Clinical applications of DNA diagnosis.
  Phillips, J.A. III, Proceedings of Symposium on DNA Technology and Genetic Engineering in Human Diseases, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, 1/1/1993

Lectures

• Invited Speaker, Thomas L Petty Aspen Lung Conf 
  Aspen CO - 6/9/2010
• Platform Speaker, American Thoracic Society National Meeting 
  San Francisco, CA - 5/22/2007
• Invited Speaker, International Symposium Genetic Endocrine Diseases 
  Antalya, Turkey - 3/2/2006
• XXV Congress of the Spanish Society of Pediatric Endocrinology (Invited Speaker) 
  Zaragosa, Spain - 1/1/2003
• Keynote Speaker 
  Kalamzaoo, MI - 1/1/2003
• Genetics Workshop (Invited Speaker) 
  Sitges, Spain - 4/24/2002
• 105th Meeting of Japan Pediatric Society (Invited Speaker) 
  Nagoya, Japan - 4/19/2002
• 6th International Pituitary Congress (Invited Speaker) 
  Long Beach, CA - 6/15/1999
• GH and Growth Factors in Endocrinology and Metabolism 
  Palma de Mallorca, Spain - 1/1/1998
• World Symposium - Primary Pulmonary Hypertension 
  Evian, France - 1/1/1998
• Saudi School on Human Molecular Genetics (Invited Speaker) 
  Riyadh, Saudi Arabia - 1/1/1997
• Genetic Testing for Cystic Fibrosis 
  1/1/1997
• Symposium on Genetic Diseases in Arab Populations 
  Riyadh, Saudi Arabia - 1/1/1997
• First Gulf Symposium on Genetic Disorders (Invited Speaker) 
  Riyadh, Saudi Arabia - 1/1/1997
• A Genetic Research on Human Tissues: Conflicting Implications for Scientific Discovery and Informed Consent and Privacy 
  1/1/1996
• Symposium on Growth Disorders (Invited Speaker) 
  Orlando, FL - 1/1/1994
• Molecular Biology of Endocrine Diseases (Invited Speaker) 
  Rome, Italy - 1/1/1993
• Molecular Endocrinology (Invited Speaker) 
  Athens, Greece - 1/1/1993
• Growth Disturbances in Children (Invited Speaker) 
  Tokyo, Japan - 1/1/1993
• Pediatric Endocrinology Symposium (Invited Speaker) 
  Sao Paulo, Brazil - 1/1/1993
• Symposium on Molecular Genetics in the Setting of Middle Eastern Populations 
  Riyadh, Saudi Arabia - 1/1/1993
• Genetic Issues in Insurance Medicine 
  Washington, DC - 1/1/1993
• Endocrinology and Development (Invited Speaker) 
  Baltimore, MD - 1/1/1992
• 16th Annual Sonography Symposium (Invited Speaker) 
  Nashville, TN - 1/1/1992
• European Society of Paediatric Endocrinology (Invited Plenary Speaker) 
  Zaragosa, Spain - 1/1/1992
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Other

• Heritable Pulmonary Arterial Hypertension 
  Loyd, JE and Phillips, JA III, GeneClinics
  http://www.GeneClinics.org
  3/29/2011
• Chromosome 5 Genetic Variants Related to Dyslexia. 
  Dawson, EP, Womble, KE and Phillips, JA III, International Patent Application No. PCT/US04/37587
  1/1/2006
• Overview of Disorders Detected by Newborn Screening in Tennessee. 
  Phillips, JA III, NBS Video TN Dept Health
  1/1/2006
• PROP1-Related Combined Pituitary Hormone Deficiency. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. 
  Phillips J, Vnencak-Jones C, Layman L, Copyright, University of Washington, Seattle 1997-2005
  http://www.genetests.org
  11/1/2005
• PROP1-Related Combined Pituitary Hormone Deficiency. 
  Phillips, JA III, Vnencak-Jones, C and Layman, LC, GeneClinics
  http://www.GeneClinics.org
  1/1/2005
• BMPR2-Related Primary Pulmonary Hypertension. 
  Loyd, J.E. and Phillips, J.A. III, GeneClinics
  http://www.GeneClinics.org
  1/1/2005
• Targeted Degradation of RNA. 
  Patton, JG, Phillips, JA III, Ryther, RC, United States Provisional Patent Application # 60/516,391
  11/26/2003
• PROP1-related combined pituitary hormone deficiency (CPHD). 
  Phillips, J.A. III, Layman, L.C. and Vnencak-Jones, C., GeneClinics
  http://www.GeneClinics.org
  1/1/2003
• Modulation of in vivo glutamine and glycine levels in the treatment of autism. 
  Phillips, J.A. III and McGrew, S.G, United States Patent # 6,362,226 B2
  3/26/2002
• Primary Pulmonary Hypertension 
  Loyd, J. E. and Phillips, J.A. III, GeneClinics
  http://www.geneclinics.org
  1/1/2002
• Method for determining polynucleotide sequence variations. 
  Dawson, E.T. and Phillips, J.A. II, United States Patent # 6, 322,988 B1
  11/27/2001
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