JohnPhilipJohnsonMD

PubMed

• 459 citations
  A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
  Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara
  Nature Genetics. 2010-03-01
• 259 citations
  Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
  David M.S. McHugh, Cynthia A. Cameron, Jose E. Abdenur, Mahera Abdulrahman, Ona Adair
  Genetics in Medicine. 2011-03-01
• 197 citations
  Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
  Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Garcia, Richard K. Olney, John L. Johnson
  Annals of Neurology. 2002-02-01

Journal Articles

• Confirmation of 6q21-6q221 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome  
  Hudson C, Schwanke C, Johnson JP, Elias AF, Phillips S, Schwalbe T, Tunby M, Xu D, Am J Med Genet A, 8/1/2014
• null  
  Johnson JP, Haag M, Beischel L, McCann C, Phillips S, Tunby M, Hansen J, Schwanke C, Reynolds, Clin Genet, 4/1/2014
• Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome  
  Johnson JP, Haag M, Beischel L, McCann C, Phillips S, Tunby M, Hansen J, Schwanke C, Reynolds, Clin Genet, 4/1/2014
• Genome-wide androgenetic mosaicism  
  Johnson JP, Waterson J, Schwanke C, Schoof J, Clin Genet, 3/1/2014
• Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project  
  McHugh DMS, Cameron CA, Abdenur JE, (multiple authors) Johnson JP, et al, Genet in Med, 1/1/2011
• A deletion 13q34/duplication 14q322-3233 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia  
  Pallister PD, Pallister AB, South S, Toydemir R, Johnson J, Beischel L, Opitz JM, Am J Med Genet, 1/1/2011
• Phenotypic analysis of individuals with Costello syndrome due to HRAS pG13C  
  Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrod ME, DoyleD, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, He..., Am J Med Genet, 1/1/2011
• Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems  
  Franek KJ, Butler J, Johnson J, Simensen R, Friez M, Bartel F, DuPont B, Bauman M, Skinner C, Stevenson RE, Schwartz CE, Am J Med Genet, 1/1/2011
• A recurrent 16p121 microdeletion supports a two-hit model for severe developmental delay  
  Giriragan S, Rosenfeld JA, Cooper GM, (multiple authors) Johnson JP, et al, Nat Genet, 1/1/2010
• Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia  
  Reed R, Beischel L, Schoof J, JohnsonJ, Raff M, Kapur R, Pediatr Dev Pathol, 2/1/2008
• How exhaustive are reviews in research review articles?  
  Tsai, AC, Johnson JP, Am J Med Genet A, 6/1/2007
• De Novo Isodicentric X Chromosome: 46,X,idic(X)(q24), and Summary of Literature  
  Tsai AC, Fine CA, Yang M, Walton CS, Beischel L, Johnson JP, Am J Med GenetA, 1/1/2006
• De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature  
  Tsai AC, Fine CA, Yang M, Walton CS, Beischel L, Johnson JP, Am J Med Genet A, 1/1/2006
• Recurrent adjacent-2 segregation of a familial t(14;21)(q112;q112): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)  
  Chen E, Choe M, Loughman W, Covert S, Bitts S, Rowe A, Beischel L, Johnson J, Am J Med Genet A, 1/1/2005
• Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprint disorder, and monochorionic placentation  
  Yoon G, Beischel LS, Johnson JP, Jones MC, J Pediatr, 1/1/2005
• Recurrent Adjacent-2 Segregation of a Familial T(14;21)(q112;q112): Phenotypic Comparison of Two Brothers and a Paternal Aunt Inheriting the Der(14)  
  Chen E, Choe M, Loughman W, Covert S, Bitts S, Rowe A, Beischel L, Johnson J, Am J Med GenetA, 1/1/2005
• Dizygotic Twin Pregnancy Conceived with Assisted Reproductive Technology Associated with Chromosomal Anomaly, Imprint Disorder, and Monochorionic Placentation  
  Yoon G, Beischel LS, Johnson JP, Jones MC, J Pediatr, 1/1/2005
• A child with Angelman syndrome and Trisomy 13 findings associated with paternal UPD 15 and segmental UPD 13  
  Tsai A C-H, Gibby T, Beischel L, McGavran L, Johnson JP, Am J Med Genet, 1/1/2004
• Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment  
  Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, MCGavran L, Hagerman RJ, Am J Med Genet, 1/1/2003
• A case of segmental paternal isodisomy of chromosome 14  
  Coveler KJ, Yang SP, Sutton VR, Milstein JM, Wu Y-Q, Knox-DuBois C, Beischel LB, Johnson J, Shaffer LG, Hum Genet, 1/1/2002
• Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation  
  Boerkel CF, Takashima H, Barcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi A, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR, Ann Neurol, 1/1/2002
• Hepatic carnitine palmitoyltransferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect and results of a pilo...  
  Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, Beischel L, Thuillier L, Prip-Buus C, Sinal R, Thompson JRG, Prasad AN, Buist N, Greenberg CR, Mol Gen Metab, 1/1/2001
• Anonymous Predictive Testing for Huntington's Disease in the United States  
  Visintainer CL, Matthias-Hagen V, Nance MA, US Huntington Disease Genetic Testing Group, Genet Test, 1/1/2001
• Anonymous predictive testing for Huntington’s disease in the United States  
  Visintainer CL, Matthias-Hagen V, Nance MA, US Huntington Disease Genetic Testing Group, Genet Test, 1/1/2001
• Worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease  
  Almqvist EW, Bloch M, Brinkman R, Crauford D, Hayden MR on behalf of an International Huntington Disease Collaborative Group, Am J Hum Genet, 1/1/1999
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Books/Book Chapters

• Psychosocial Aspects of Cystic Fibrosis 
  Chapter: Genetic testing and counseling. 
  Page 393 - 410Fanos JH, Johnson JPEditors: Lask B, Bluebond-Langner M, Angst DB.Arnold, London2001
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Recurrence risk for birth defects - commentary. 
  Page 38 - 39Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Procedure risks of CVS and early amniocentesis - commentary. 
  Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Risk to offspring with parental congenital heart disease - commmentary. 
  Page 288 - 289Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Smoking and Limb Defects - Commentary 
  Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Procedure Risks of CVS and Early Amniocentesis - Commentary 
  Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Smoking and limb defects - Commentary. 
  Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Risk to Offspring with Parental Congenital Heart Disease - Commmentary 
  Page 288 - 289Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Birth Defect Risk from Anesthesia during Pregnancy-commentary 
  Page 23 - 24Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Cascade Cystic Fibrosis Testing - Commentary 
  Page 28 - 29Editors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Cascade cystic fibrosis testing - commentary. 
  Page 28 - 29Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Birth defect risk from anesthesia during pregnancy-commentary. 
  Page 23 - 24Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Recurrence Risk for Birth Defects - Commentary 
  Page 38 - 39Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1995
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Detection of Y chromosome in Turner’s syndrome - Commentary. 
  Page 110 - 111Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1994
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Detection of Y Chromosome in Turner's Syndrome - Commentary 
  Page 110 - 111Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1994
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Genetic counseling in retinoblastoma - commentary. 
  Page 33 - 34Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1993
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: “FISH” and interphase prenatal cytogenetic diagnosis - commentary. 
  Page 13 - 15Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1993
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: "FISH" and Interphase Prenatal Cytogenetic Diagnosis - Commentary 
  Page 13 - 15Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1993
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Genetic Counseling in Retinoblastoma - Commentary 
  Page 33 - 34Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1993
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: The Fragile X gene - commentary. 
  Page 16 - 18Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1992
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: The Fragile X Gene - Commentary 
  Page 15 - 18Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1992
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Paternal Occupational Exposures and Reproductive Risk - Commentary 
  Page 57 - 58Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1992
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Paternal occupational exposures and reproductive risk - commentary. 
  Page 57 - 58Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1992
• The Molecular Biology of Human Genetic Disease 
  Chapter: Study of the F508 Deletion in Hungarian Cystic Fibrosis Families 
  1991
• Yearbook of Neonatal and Perinatal Medicine 
  Chapter: Beta-HCG Screening - Commentary 
  Johnson JPEditors: Klaus M and Fanaroff A.Yearbook Medical Publishers, Chicago1991
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Abstracts/Posters

• Results of a Prospective Series of 952 Prenatal Diagnoses for Imprinting Disorders. (Platform)
  Johnson J, 16th International Conference on Prenatal Diagnosis and Therapy, Miami, FL, 6/1/2012
• Results of a Prospective Series of 952 Prenatal Diagnoses for Imprinting Disorders Associated with IVF
  16th International Conference on Prenatal Diagnosis and Therapy, Miami, FL, 6/1/2012
• Double Methylation Disorders: Beckwith-Wiedemann and Angelman Syndromes in Two Patients
  Randolph L, Wong D, Waterson J, Schoof J, Johnson J, American Society of Human Genetics Annual Meeting, Washington, DC, 11/1/2011
• Double methylation disorders: Beckwith-Wiedemann and Angelman syndromes in two patients.
  Randolph L, Wong D, Waterson J, Schoof J, Johnson J, American Society of Human Genetics Annual Meeting, Washington, DC, 11/1/2010
• Angelman syndrome and Beckwith-Wiedemann syndrome methylation testing in a prospectiveseries of 317 IVF pregnancies.
  Black L, Bhatt S, Ross L, Beischel L, Johnson J, Main D, Goldberg J, American Society of Reproductive Medicine Annual Meeting, San Francisco, CA, 11/1/2008
• Angelman Syndrome and Beckwith-Wiedemann Syndrome Methylation Testing in a Prospective Series of 317 IVF Pregnancies
  Black L, Bhatt S, Ross L, Beischel L, Johnson J, Main D, Goldberg J, American Society of Reproductive Medicine Annual Meeting, San Francisco, CA, 11/1/2008
• First prenatal detection of maternal uniparental disomy (UPD) of chromosome 6 and “rescue” of trisomy 6.
  Haag M, Beischel L, Rokeach J, Wallace D, Knops J, O’Connor K, Johnson J, Ibrahim J, American Society of Human Genetics Annual Meeting, New Orleans, LA, 10/1/2007
• First Prenatal Detection of Maternal Uniparental Disomy (UPD) Of Chromosome 6 and "Rescue" of Trisomy 6
  Haag M, Beischel L, Rokeach J, Wallace D, Knops J, O'Connor K, Johnson J, Ibrahim J, American Society of Human Genetics Annual Meeting, New Orleans, LA, 10/1/2007
• Atypical phenotype of Angelman syndrome (AS) in two patients mosaic for imprinting mutations.
  Elias E, Pickler L, Beischel L, Johnson J, American College of Medical Genetics Annual Meeting, San Diego, CA, 3/1/2006
• Atypical Phenotype of Angelman Syndrome (AS) In Two Patients Mosaic for Imprinting Mutations
  Elias E, Pickler L, Beischel L, Johnson J, American College of Medical Genetics Annual Meeting, San Diego, CA, 3/1/2006
• Angelman syndrome and Beckwith-Wiedemann syndrome methylation testing in a prospective series of 84 IVF pregnancies.
  Ross L, Black L, Johnson J, Beischel L, Bhatt S, Goldberg J, American Society of Human Genetics Annual Meeting, Toronto, Canada, 10/1/2004
• Angelman Syndrome and Beckwith-Wiedemann Syndrome Methylation Testing in a Prospective Series of 84 IVF Pregnancies
  Ross L, Black L, Johnson J, Beischel L, Bhatt S, Goldberg J, American Society of Human Genetics Annual Meeting, Toronto Canada, 10/1/2004
• Clinical, cytogenetic and molecular analysis of a family with recurrence of 11q- Jacobsen syndrome with uniparental disomy in the mother.
  Johnson JP, Beischel L, McCann C, Haag M, Phillips S, Tunby M, Hansen J, Reynolds J, Proc Greenwood Genet Center; David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA, 1/1/2002
• Molecular analysis of Beckwith-Wiedemann syndrome (BWS) patients for paternal UPD or maternal methylation anomalies: Genotype/phenotype correlation. (Platform)
  Johnson JP, Davis N, Viskochil DH, Manchester DK, Beischel LS, Proc Greenwood Genet Center; David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA, 1/1/2002
• A child with “Angelman syndrome and facial findings of Trisomy 13 due to paternal UPD 15 and segmental UPD 13: Evidence of post-zygotic somatic recombination between ...
  Tsai Anne C-H, Gibby T, Beischel L, Johnson JP, Proc Greenwood Genet Center; David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA, 1/1/2002
• Molecular Analysis of Beckwith-Wiedemann Syndrome (BWS) Patients for Paternal UPD or Maternal Methylation Anomalies: Genotype/phenotype Correlation
  Johnson JP, Davis N, Viskochil DH, Manchester DK, Beischel LS, David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA (Proc Greenwood Genet Center), 1/1/2002
• Clinical, Cytogenetic and Molecular Analysis of a Family with Recurrence of 11q- Jacobsen Syndrome with Uniparental Disomy in the Mother
  Johnson JP, Beischel L, McCann C, Haag M, Phillips S, Tunby M, Hansen J, Reynolds J, David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA (Proc Greenwood Genet Center), 1/1/2002
• A Child with "Angelman Syndrome and Facial Findings of Trisomy 13 due to Paternal UPD 15 and Segmental UPD 13: Evidence of Post-zygotic Somatic Recombination between ...
  Tsai Anne C-H, Gibby T, Beischel L, Johnson JP, David W. Smith Conference on Malformations and Morphogenesis, Lake Arrowhead, CA (Proc Greenwood Genet Center), 1/1/2002
• Toward diagnostic testing for Beckwith-Wiedemann syndrome (BWS): Correlation of southern blot and PCR assays for loss of imprinting (LOI) at KCNQ1OT1 in patients, con...
  Davis N, Haag M, Johnson J, Beischel L, Association of Genetic Technologists Annual Meeting, Minneapolis, MN, 6/1/2001
• Completing genetic analysis on incomplete (partial) molar pregnancies: Origin of the extra chromosome set and clinical correlations.
  Phillips S, Beischel L, Tunby M, Streets K, Berry K, Boomer T, FitzGerald J, Reynolds J, Johnson J, Haag M, Association of Genetic Technologists Annual Meeting, Minneapolis, MN, 6/1/2001
• Toward Diagnostic Testing for Beckwith-Wiedemann Syndrome (BWS): Correlation of Southern Blot and PCR Assays for Loss of Imprinting (LOI) At KCNQ1OT1 in Patients, Con...
  Davis N, Haag M, Johnson J, Beischel L, Association of Genetic Technologists Annual Meeting, Minneapolis, MN, 6/1/2001
• Completing Genetic Analysis on Incomplete (Partial) Molar Pregnancies: Origin of the Extra Chromosome Set and Clinical Correlations
  Phillips S, Beischel L, Tunby M, Streets K, Berry K, Boomer T, FitzGerald J, Reynolds J, Johnson J, Haag M, Association of Genetic Technologists Annual Meeting, Minneapolis, MN, 6/1/2001
• Detecting aneuploidy: Comparison of primed in situ labeling (PRINS), fluorescence in situ hybridization (FISH), and chromosome analysis. (Platform)
  Davis N, Beischel L, Haag M, Johnson J, Association of Genetic Technologists Annual Meeting, Houston, TX, 6/1/2000
• Detecting Aneuploidy: Comparison of Primed in Situ Labeling (PRINS), Fluorescence in Situ Hybridization (FISH), and Chromosome Analysis
  Davis N, Beischel L, Haag M, Johnson J, Association of Genetic Technologists Annual Meeting, Houston, TX, 6/1/2000
• Terminal deletion of 11q in two brothers: Clinical, cytogenetic molecular genetic and counseling issues.
  Haag MM, Phillips SM, Tunby ML, Beischel LS, McCann CL, Hansen JC, Johnson JP, Reynolds JF, American College of Medical Genetics Annual Meeting, Palm springs, CA, 3/1/2000
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Lectures

• Common Adult Syndromes 
  Metrowest Health Center, Framingham, MA - 4/1/2014
• Common Craniofacial Syndromes 
  Tufts Medical Center - 3/1/2014
• Pediatric Residents 
  Floating Hospital for Children - 1/1/2014
• Common Pediatric Syndromes 
  Leonard Morse Hospital, Natick, MA - 1/1/2014
• Orthodontics Students 
  Tufts Dental School - 1/1/2014
• ENT Residents 
  Tufts Medical Center - 1/1/2014
• Chromosomal Microarrays: Who, What, Where, When, Why 
  Floating Hospital for Children, Tufts, Boston, MA - 10/1/2013
• Chromosomal Microarrays: Who, What, Where, When, Why 
  Floating Hospital for Children, Tufts, Boston MA - 10/1/2013
• Genetics of Mental Retardation 
  Helena, MT - 1/1/2013
• Biochemistry and Pathology Courses 
  Montana State University, Bozeman, MT - 1/1/2013
• Microarray: Macrodata 
  Big Sky, MT - 1/1/2012
• Prenatal and Newborn Screening 
  Big Sky, MT - 1/1/2012
• Case Presentation: DOCK8 and PWRN2 Deletion 
  Denver, CO - 7/1/2010
• Case Presentation: DOCK8 and PWRN2 Deletion 
  Denver, CO - 7/1/2010
• The Time of our Lives: The Science of Human Aging 
  Billings, MT - 6/1/2010
• Genetics of Aging 
  Billings, MT - 6/1/2010
• Autism: Genetic Implications. 
  Glendive, MT - 8/1/2009
• Autism: Genetic Implications 
  Glendive, MT - 8/1/2009
• Prenatal Diagnosis of Beckwith-Wiedemann syndrome 
  Denver, CO - 7/1/2009
• Cancer Genetics 
  Helena, MT - 11/1/2008
• Genetic Testing for Breast Cancer 
  Multiple locations, 2002, 2003 - 11/1/2008
• Newborn Screening 2008 
  Billings, MT - 2/1/2008
• “Hometown Helena” (Public) 
  Helena, MT - 2/1/2008
• Collecting a Family History 
  Austin, TX - 11/1/2007
• Update/workgroup on Telemedicine 
  Washington, DC - 11/1/2007
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