Dennis W. Bartholomew, MD

Dennis W. Bartholomew, MD, is Chief of the Section of Molecular and Human Genetics and Director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine at Nationwide Children’s Hospital and a Clinical Professor of Pediatrics at The Ohio State University College of Medicine. He received his medical degree from Northwestern University Medical School, Chicago, Illinois. He is board certified by both the American Board of Pediatrics and the American Board of Medical Genetics in clinical genetics and biochemical/molecular genetics. He serves on the Graduate Medical Education Committee at Nationwide Children’s Hospital and on the State of Ohio Newborn Screening Advisory Committee, as well as the Ohio Newborn Screening Laboratory Subcommittee. Dr. Bartholomew also serves as the program director for the Genetics Residency and laboratory fellowships in Cytogenetics and Molecular Genetics at Nationwide Children’s Hospital.

Gender:

• Male

Languages Spoken:

• English

Research Funding*:

• Regional Comprehensive Genetics Center at Nationwide Children’s Hospital, Ohio Department of Health

Medical School

• Northwestern University Hospital
  Date Completed: 12/12/1980

Internship

• Children's Memorial Hospital (Chicago)
  Date Completed: 06/30/1981

Internship

• David Grant Medical Center - Travis AFB
  Date Completed: 12/31/1981

Residency

• David Grant Medical Center - Travis AFB
  Date Completed: 12/31/1983

Fellowship

• Johns Hopkins Hospital
  Date Completed: 06/30/1987

Department:

• Pediatrics

Section:

• Molecular & Human Genetics

Speciality:

• Biochemical/Molecular Genetics
  
• Clinical Genetics
  
• Pediatrics
  

Date of Appointment at Nationwide Children’s Hospital:

• 11/17/1998

• Mokhtarani,M; DIAZ,G,A; Rhead,W; Lichter-Konecki,U; Bartley,J; Feigenbaum,A; Longo,N; Berquist,W; Berry,S,A; Gallagher,R; Bartholomew,D; Harding,C,O; Korson,M,S; McCandless,S,E; Smith,W; Vockley,J; Bart,P,S; Kronn,D; Zori,R; Cederbaum,S; Dorrani,N; Merritt,J,L; Sreenath-Nagamani,Sandesh; Summar,M; LeMons,C; Dickinson,K; Coakley,D,F; Moors,T,L; Lee,B; Scharschmidt,B,F. 2012. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.  MOLECULAR GENETICS AND METABOLISM. Vol. 107, no. 3. (November): 308-314.
• Prada,Carlos,E; Kaul,Ajay; Hopkin,Robert,J; Page,Kimberley,I; Nathan,Jaimie,D; Bartholomew,Dennis,W; Cohen,Mitchell,B; Heubi,James,E; Leslie,Nancy,D; Burrow,T,Andrew. 2012. Recurrent pancreatitis in ornithine transcarbamylase deficiency.  MOLECULAR GENETICS AND METABOLISM. Vol. 106, no. 4. (August): 482-484.
• Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. 2012. Recurrent pancreatitis in ornithine transcarbamylase deficiency.  Mol Genet Metab. Vol. 106, no. 4. (August): 482-484.
• Diaz,Ga; Krivitzky,L; Mokhtarani,M; Rhead,W; Bartley,J; Feigenbaum,A; Longo,N; Berquist,W; Berry,S,A; Gallagher,R; Lichter-Konecki,U; Bartholomew,D; Harding,C,O; Cederbaum,S; McCandless,S,E; Smith,W; Vockley,J; Bart,S; Korson,M,S; Kronn,D; Zori,R; Merritt,J,L; Sreenath-Nagamani,Sandesh; Mauney,J; Dickinson,K; Moors,T; Coakley,D; Scharschmidt,B,F; Lee,B. 2012. Ammonia (NH3) control and improved neurocognitive outcome among urea cycle disorder (UCD) patients treated with glycerol phenylbutyrate (GPB).  MOLECULAR GENETICS AND METABOLISM. Vol. 105, no. 3. (March): 311-312.
• Mokhtarani,M; DIAZ,G,A; Rhead,W; Lichter-Konecki,U; Bartley,J; Feigenbaum,A; Longo,N; Berquist,W; Berry,S,A; Gallagher,R; Bartholomew,D; Harding,C,O; Korson,M,S; McCandless,S,E; Smith,W; Vockley,J; Bart,S; Kronn,D; Zori,R; Sreenath-Nagamani,Sandesh; Summar,M; Dickinson,K; Coakley,D; Lee,B; Scharschmidt,B,F. 2012. Urinary phenylacetylglutamine appears to be a more useful marker than metabolite blood levels for therapeutic monitoring of phenylacetic acid (PAA) prodrugs.  MOLECULAR GENETICS AND METABOLISM. Vol. 105, no. 3. (March): 341-342.
• Mokhtarani,M; DIAZ,G,A; Rhead,W; Bartley,J; Feigenbaums,A; Longo,N; Berquist,W; Berry,S,A; Gallagher,R; Lichter-Konecki,U; Bartholomew,D; Harding,C,O; Cederbaum,S; McCandless,S,E; Smith,W; Vockley,J; Bart,S; Korson,M,S; Kronn,D; Zori,R; Merritt,J,L; Sreenath-Nagamani,Sandesh; Mauney,J; Dickinson,K; Moors,T; Coakley,D; Lee,B; Scharschmidt,B,F. 2012. Elevated phenylacetic acid (PAA) levels appear linked to neurological adverse events in healthy adults but not in urea cycle disorder (UCD) patients.  MOLECULAR GENETICS AND METABOLISM. Vol. 105, no. 3. (March): 342-343.
• Monteleone,J,PR; Mokhtarani,M; DIAZ,G,A; Rhead,W; Lichter-Konecki,U; Bartley,J; Feigenbaum,A; Longo,N; Berquist,W; Berry,S,A; Gallagher,R; Bartholomew,D; Harding,C,O; Korson,M,S; McCandless,S,E; Smith,W; Vockley,J; Bart,S; Kronn,D; Zori,R; Sreenath-Nagamani,Sandesh; Summar,M; Dickinson,K; Coakley,D; Lee,B; Scharschmidt,B,F. 2012. Population pk analysis of glycerol phenylbutyrate (GPB) and sodium phenylbutyrate (NAPBA) in adult and pediatric patients with urea cycle disorders (UCD).  MOLECULAR GENETICS AND METABOLISM. Vol. 105, no. 3. (March): 343-344.
• Talkowski,Michael,E; Mullegama,Sureni,V; Rosenfeld,Jill,A; van Bon,W,M; Shen,YiPing; Repnikova,Elena,A; Gastier-Foster,Julie; Thrush,Devon,Lamb; Kathiresan,Sekar; Ruderfer,Douglas,M; Chiang,Colby; Hanscom,Carrie; Ernst,Carl; Lindgren,Amelia,M; Morton,Cynthia,C; An,Yu; Astbury,Caroline; Brueton,Louise,A; Lichtenbelt,Klaske,D; Ades,Lesley,C; Fichera,Marco; Romano,Corrado; Innis,Jeffrey,W; Williams,Charles,A; Bartholomew,Dennis; Van Allen,Margot,I; Parikh,Aditi; Zhang,Lilei; Wu,Bai-Lin; Pyatt,Robert,E; Schwartz,Stuart; Shaffer,Lisa,G; de Vries,Bert,BA; Gusella,James,F; Elsea,Sarah,H. 2011. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 89, no. 4. (October): 551-563.
• DIAZ,G,A; Bartley,J; Longo,N; Berquist,W; Feigenbaum,A; Gallagher,R; Rhead,W; Bartholomew,D; Harding,C,O; Korson,M,S; Lichter-Konecki,U; Berry,S,A; Smith,W; McCandless,S,E; Vockley,J; Bart,S; Kronn,D; Zori,R; Sreenath-Nagamani,Sandesh; Summar,M; Jomphe,C; Beliveau,M; Mauney,J; Dickinson,K; Mokhtarani,M; Coakley,D; Scharschmidt,B,F; Lee,B. 2011. Phase 3 blinded, randomized, crossover comparison of sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB): Ammonia (NH3) control in adults with urea cycle disorders (UCDS).  MOLECULAR GENETICS AND METABOLISM. Vol. 102, no. 3. (March): 276-277.
• Valentine CJ, Morrow G, Fernandez S, Gulati P, Bartholomew D, Long D, Welty SE, Morrow AL, Rogers LK. 2010. Docosahexaenoic acid and amino acid contents in pasteurized donor milk are low for preterm infants.  J Pediatr. Vol. 157, no. 6. (December): 906-910.
• Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM. 2010. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.  Am J Med Genet. Vol. 152A, no. 9. (September): 2301-2307.
• Ballif,Blake,C; Theisen,Aaron; Rosenfeld,Jill,A; Traylor,Ryan,N; Gastier-Foster,Julie; Thrush,Devon,Lamb; Astbury,Caroline; Bartholomew,Dennis; McBride,Kim,L; Pyatt,Robert,E; Shane,Kate; Smith,Wendy,E; Banks,Valerie; Gallentine,William,B; Brock,Pamela; Rudd,M,Katharine; Adam,Margaret,P; Keene,Julia,A; Phillips,John,A; Pfotenhauer,Jean,P; Gowans,Gordon,C; Stankiewicz,Pawel; Bejjani,Bassem,A; Shaffer,Lisa,G. 2010. Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities.  AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 86, no. 3. (March): 454-461.
• Monteleone,Jon,PR; Dykstra,Kevin,H; Lee,Brendan; McGuire,Brendan,M; Berry,Susan; Diaz,George; Rhead,William; Syplyviy,V; Zupanets,Igor; Gargosky,Sharron; Martinez,Antonia; Mokhtarani,Masoud; Scharschmidt,Bruce,F. 2010. HPN-100, A NOVEL INVESTIGATIONAL AMMONIA SCAVENGING AGENT, DEMONSTRATED UNIQUE BEHAVIOR BASED ON PHARMACOKINETIC/PHARMACODYNAMIC (PK/PD) MODELING.  MOLECULAR GENETICS AND METABOLISM. Vol. 99, no. 3. (March): 232-232.
• Dyke PC 2nd; Konczal L; Bartholomew D; McBride KL; Hoffman TM. 2009. Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.  Pediatric Cardiology. Vol. 30, no. 4. (May): e523.
• Bartholomew DW. 2007. Potential and pitfalls of NBS, and the reference lab's role.  MLO: Medical Laboratory Observer. Vol. 39, no. 7. (July): e12.
• Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R,Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R,Morin G, Beck M, D. 2007. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.  Neurology. Vol. 68, no. 2. (January): 99-109.
• Bartholomew DW. 2007. Potential and pitfalls of NBS, and the reference lab's role.  MLO Medical Laboratory Observer. Vol. 39, no. 7. (January): 12-19.
• Tsao CY; Wenger GD; Bartholomew DW. 2005. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.  American Journal Of Medical Genetics. Part A. Vol. 134A, no. 2. (April): e198.
• Frank RE; Bartholomew DW. 2004. Cystic fibrosis--a genetic dilemma.  Journal Of Insurance Medicine (New York, N.Y.). Vol. 36, no. 2. (January): e158.
• Sommer A; Bartholomew DW. 2003. Craniofacial-deafness-hand syndrome revisited.  American Journal Of Medical Genetics. Part A. Vol. 123A, no. 1. (November): e91.
• Tsao CY; Mendell JR; Bartholomew D. 2001. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.  Journal Of Child Neurology. Vol. 16, no. 7. (July): e533.
• Hojo S; Fujita J; Miyawaki H; Obayashi Y; Takahara J; Bartholomew DW. 1998. Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.  Clinical Genetics. Vol. 53, no. 1. (January): e50.
• Bartholomew D; Abshire T; Fries M; Smith A. 1997. Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease.  Human Mutation. Vol. 9, no. 1. (January): e72.
• Wardinsky TD; Montes RG; Friederich RL; Broadhurst RB; Sinnhuber V; Bartholomew D. 1995. Vitamin B12 deficiency associated with low breast-milk vitamin B12 concentration in an infant following maternal gastric bypass surgery.  Archives Of Pediatrics & Adolescent Medicine. Vol. 149, no. 11. (November): e1281.
• McCool RA; Bombard AT; Bartholomew DA; Calhoun BC. 1992. Unexplained positive/elevated maternal serum alpha-fetoprotein associated with placenta increta. A case report.  The Journal Of Reproductive Medicine. Vol. 37, no. 9. (September): e826.
• Maestri NE; Hauser ER; Bartholomew D; Brusilow SW. 1991. Prospective treatment of urea cycle disorders.  The Journal Of Pediatrics. Vol. 119, no. 6. (December): e923.
• Bombard AT; Bartholomew DW. 1991. Molecular analysis and chorionic villus sampling (CVS): opportunities for rapid prenatal diagnosis in the military.  Military Medicine. Vol. 156, no. 12. (December): e678.
• Bombard AT; Rigdon DT; Bartholomew DW; Flanagan JC. 1990. Analysis of indications for referral to a multidisciplinary medical genetics clinic: implications for training programs in obstetrics and gynecology.  American Journal Of Obstetrics And Gynecology. Vol. 162, no. 1. (January): e10.
• Bombard AT; Bartholomew DW; Rigdon DT. 1988. Diagnosis of homocystinuria.  Military Medicine. Vol. 153, no. 11. (November): e596.
• Bartholomew DW; Batshaw ML; Allen RH; Roe CR; Rosenblatt D; Valle DL; Francomano CA. 1988. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.  The Journal Of Pediatrics. Vol. 112, no. 1. (January): e32.
• Bartholomew DW; Jabs EW; Levin LS; Ribovich R. 1987. Single maxillary central incisor and coloboma in hypomelanosis of Ito.  Clinical Genetics. Vol. 31, no. 6. (June): e370.
• Bartholomew DW; Batshaw M; Wilson MD; Semenza G. 1987. Excessive protein intake: a common cause of false-positive neonatal screening for tyrosinemia.  Maryland Medical Journal (Baltimore, Md.: 1985). Vol. 36, no. 5. (May): e429.
• Bartholomew,D,W; Batshaw,M; Wilson,M,D; Semenza,G. 1987. Excessive protein intake: a common cause of false-positive neonatal screening for tyrosinemia.  Maryland medical journal (Baltimore, Md. : 1985). Vol. 36, no. 5. (May): 429-432.
• Bartholomew DW. Potential and pitfalls of newborn screening and the reference laboratory’s role. Medical Laboratory Observer 29 (7): 12-19, 2007.
• Bartholomew DW. Potential and pitfalls of NBS, and the reference lab’s role. MLO-Medical Laboratory Observer 39: 12, 14-16, 19; quiz 26-17, 2007.
• Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68: 99-109, 2007