Publications

  1. Cho J, Chen JCY, Paludo J, Conboy EE, Lanpher BC, Alberts SR, Halfdanarson TR. Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review Journal Of Gastrointestinal Oncology. 2019 Jun; 10 (3):582-8
  2. Cho J, Chen JCY, Paludo J, Conboy EE, Lanpher BC, Alberts SR, Halfdanarson TR. Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review. J Gastrointest Oncol. 2019 Jun; 10 (3):582-588
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  3. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1; 129 (3):1240-1256 Epub 2019 Feb 11
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  4. Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 Feb; 56 (2):89-95 Epub 2018 Dec 04
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  5. Pinto E Vairo F, Conboy E, de Souza CFM, Jones A, Barnett SS, Klee EW, Lanpher BC. Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. Pediatrics. 2018 Dec; 142 (6)
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  6. Kaeppler KE, Stetson RC, Lanpher BC, Collura CA. Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. Am J Med Genet A. 2018 Dec; 176 (12):2911-2914 Epub 2018 Nov 18
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  7. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC, Task Force for Neonatal Genomics//Deciphering Developmental Disorders Study. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1; 103 (5):666-678 Epub 2018 Oct 18
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  8. Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, Patterson MC, Albright RC, Yu AS, Torres VE, Harris PC, HALT Progression of Polycystic Kidney Disease Group Investigators. The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. Am J Kidney Dis. 2018 Aug; 72 (2):302-308 Epub 2018 Feb 01
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  9. Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT, CureSPG47. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 Feb; 176 (2):311-318 Epub 2017 Nov 28
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  10. Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2018; 40:63-69 Epub 2017 Oct 14
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  11. Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients. Mol Genet Metab Rep. 2017 Dec; 13:46-51 Epub 2017 Aug 11
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  12. Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Moller RS, Lerche H, Rubboli G. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain. 2017 Sep 1; 140 (9):2337-2354
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  13. Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Am J Med Genet A. 2017 May; 173: (5)1328-1333.
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  14. Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49 (4):527-536 Epub 2017 Mar 13
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  15. Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, Hauser N, Regier DS. Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis. Mol Genet Metab Rep. 2017 Mar; 10:8-10 Epub 2016 Dec 09
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  16. Smpokou P, Lanpher BC, Rosenbaum KN. Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate. Adv Neonatal Care. 2015 Aug; 15(4):248-52.
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  17. Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE. Expanding the phenotypic spectrum in EP300-related Rubinstein -Taybi syndrome. Am J Med Genet A 2015 May doi 101002/ajmga36883 Epub PubMed PMID: 25712426. 2015 Feb 25; 167(5):1111-6.
  18. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2013 Dec 20.
  19. Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC, Members of the Urea Cycle Disorders Consortium, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab. 2012 Nov; 107(3):315-21. Epub 2012 Sep 17.
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  20. Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab. 2012 Aug; 106(4):439-41. Epub 2012 Apr 20.
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  21. Solomon BD, Pineda-Alvarez DE, Hadley DW, Nisc Comparative Sequencing Program, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, Sincan M, Chandrasekharappa SC, Mullikin JC. Personalized genomic medicine: Lessons from the exome. Mol Genet Metab. 2011 Jul 5.
  22. Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun; 93(6):1248-54. Epub 2011 Apr 13
  23. Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Phenylbutyrate therapy for Maple Syrup Urine disease. Hum Mol Genet. 2010 Nov 23.
  24. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-S105. Epub 2010 Feb 10
  25. Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009 Dec; 41(12):1269-71. Epub 2009 Nov 8
  26. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602. Epub 2009 Jun 26
  27. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani S, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Mar 15; 3:A locus.
  28. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2008 Dec.
  29. Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M, Collaborators Urea Cycle Disorders Consortium: Batshaw ML, Tuchman M, Lichter-Konecki U, McCarter R, Gropman AL, Fricke S, Van Meter J, Seltzer R, Lee B, Summar M, Lanpher B, Yudkoff M, Cederbaum S, Diaz G, Kerr D, McCandless S, Zinn A, Seashore M, Krischer J, Lee HS, Richesson R, Oster-Granite ML, Collier E, Spinella G, LeMons C. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):21-30. Epub 2008 Jul 26
  30. Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors. J Gene Med. 2008 Jun 19.
  31. Scaglia F, Lanpher B, Marini J, Lee B. Role of branched chain amino acids in patients with urea cycle disorders. Pathophysiology and Management of Hyperammonemia Eds C Bachmann, J Haberle, and JV Leonard, SPS Publications, p65-75 (). 2007; 2007).
  32. Lanpher B, Brunetti-Pierri N, Lee B. Inborn Errors of Metabolism: The Flux from Mendelian to Complex Disease. Nat Rev Genet Review. 2006 Jun; 7(6):449-60.
  33. Ross SD, Tribble CG, Linden J, Gangemi JJ, Lanpher BC, Wang AY, Kron IL. Selective Adenosine-A2A Activation Reduces Lung Reperfusion Injury Following Transplantation. J Heart Lung Transplant. 1999 Oct; 18(10):994-1002.
  34. Lanpher BC, Gropman A, Chapman KA, Lichter-Konecki U, Urea Cycle Disorders Consortium, Summar ML. Urea Cycle Disorders Overview (September 2011). GeneReviews at GeneTests: Medica Gentics Informaiton Resource. 1997.
  35. Dixon KH, Lanpher BC, Chiu J, Kelley K, Cowan KH. A Novel cDNA Restores Reduced Folate Carrier Activity and Methotrexate Sensitivity to Transport Deficient Cells. J Biol Chem 7. 1994 Jan 7; 269(1):17-20.