Sarah Elsea
PhD
Advisor, Global MAPS
Dr. Sarah Elsea is the Advisor for Global MAPS at Baylor Genetics.
Dr. Elsea received her bachelor’s in chemistry from Missouri State University in Springfield, MO. Following her bachelor’s degree, Dr. Elsea went to Nashville, TN where she pursued her PhD in Biochemistry at Vanderbilt University. She did postdoctoral fellowship in human molecular genetics and ABMG fellowship training in clinical biochemical genetics at Baylor College of Medicine (BCM). She then spent 15 years working at other academic institutions before coming back to BCM.
Dr. Elsea is currently the Chair of the Professional Advisory Board for PRISMS, Inc., the support group for Smith-Magenis syndrome. She also serves on the Board of the American Board of Medical Genetics and on the Board of the American College of Medical Genetics and Genomics Foundation.
Outside of work, Dr. Elsea enjoys traveling, baking, and spending time with her two daughters and two dogs. She is an American
Position
Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Advisor
Global MAPS
Baylor Genetics
Houston, TX, United States
Education
Fellowship at Baylor College of Medicine
Clinical Biochemical Genetics
Houston, Texas, United States
Postdoctoral Fellowship at Baylor College of Medicine
Human Molecular Genetics
Houston, TX, United States
Postdoctoral Fellowship at Vanderbilt University
Enzymology
Nashville, TN, United States
PhD from Vanderbilt University
Nashville, TN, United States
BS from Missouri State University
Springfield, MO, United States
Certifications
Clinical Biochemical Genetics
American Board of Medical Genetics
Publications
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373
Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing
Adam D. Kennedy, Bryan M. Wittmann, Anne M. Evans, Luke A.D. Miller, Douglas R. Toal, Shaun Lonergan, Sarah H. Elsea and Kirk L. Pappan. Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing. J Mass Spectrom. Nov 2018. PMID: 30242936
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Brian J. Shayota, Claudia Soler‐Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. American Journal of Medical Genetics Association. Mar. 2019. PMID: 30848071
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Michael S. Grotewiel, V. Reid Sutton, Sarah H. Elsea, Ayman W. El-Hattab. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Molecular Genetics and Metabolism Reports. Mar 2018; PMID: 29269105
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
Kevin E.Glinton, Harvey L.Levy, Adam D.Kennedy, Kirk L.Pappan, Sarah H.Elsea. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Molecular Genetics and Metabolism Reports. Mar 2019; PMID: 30619714
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights
Gerarda Cappuccio, Taraka R. Donti, Leroy Hubert, Qin Sun, Sarah H. Elsea. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. Dec 2019; 42: 509– 518. PMID: 30684275
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. Epub 2017 Jun 24. PMID: 28673551
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations
Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. Pediatr Neurol. 2017 Oct;75:66-72. Epub 2017 Jun 29. PMID: 28823629
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies
Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. pii: S2213-2198(2017)30082-X. PMID: 28286158
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay
Kennedy AD, Pappan KL, Donti TR, Evans AM, Wulff JE, Miller LAD, Reid Sutton V, Sun Q, Miller MJ, Elsea SH. Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. Mol Genet Metab. 2017 Apr 9. PMID: 28412083
Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies
Jain M, Kennedy AD, Elsea SH, Miller MJ. Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies. Clin Chim Acta. 2017 Mar;466:105-111. PMID: 28069401
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb;173(2):460-470. PMID: 27860360
Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry
Jiang Y, Mistretta B, Elsea S, Sun Q. Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry. Clin Chim Acta. 2017 Jan;464:93-97. PMID: 27845054
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR.” Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.” Hum Genet. 2016 Oct;135(10):1161-74. PMID: 27386852
MBD5 Haploinsufficiency
Mullegama SV, Mendoza-Londono R, Elsea SH. MBD5 Haploinsufficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Oct 27. PMID: 27786435
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug;24(9):1376. PMID: 27514998
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SH. Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016;30:39-44. PMID: 26936850
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism
Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163
Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia
Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 Aug 30;7:12642. PMID: 27572891
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2016 Nov 30. PMID: 27900673
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome
Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. “Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.” Res Dev Disabil. 2015 Dec;47:27-38. PMID: 26323055
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency
Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. PMID: 26358771
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov;116(3):139-45. PMID: 26385305
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217
Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.” Am J Med Genet A. 2015 Oct;167A(10):2496. PMID: 26355286
Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation"
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.” Am J Med Genet A. 2015 Oct;167A(10):2496. PMID: 26355286
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. “Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.” Mol Cytogenet. 2015 Oct 5;8:75. PMID: 26442755
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome
Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. “Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.” J Clin Endocrinol Metab. 2015 May;100(5):1723-30. PMID: 25781356
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep;167A(9):2162-7. PMID: 25943046
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. PMID: 25956449
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder
Mullegama SV, Alaimo JT, Chen L, Elsea SH. “Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.” Int J Mol Sci. 2015 Apr 7;16(4):7627-43. PMID: 25853262
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity – own experience
Chen L, Mullegama SV, Alaimo JT, Elsea SH. “Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity – own experience.” Dev Period Med. 2015 Apr-Jun;19(2):149-56. PMID: 26384114
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes
Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun;23(6):781-9. PMID: 25271084. Epub 2014 Oct 1.
Sarah Elsea
PhD
Advisor, Global MAPS
Dr. Sarah Elsea is the Advisor for Global MAPS at Baylor Genetics.
Dr. Elsea received her bachelor’s in chemistry from Missouri State University in Springfield, MO. Following her bachelor’s degree, Dr. Elsea went to Nashville, TN where she pursued her PhD in Biochemistry at Vanderbilt University. She did postdoctoral fellowship in human molecular genetics and ABMG fellowship training in clinical biochemical genetics at Baylor College of Medicine (BCM). She then spent 15 years working at other academic institutions before coming back to BCM.
Dr. Elsea is currently the Chair of the Professional Advisory Board for PRISMS, Inc., the support group for Smith-Magenis syndrome. She also serves on the Board of the American Board of Medical Genetics and on the Board of the American College of Medical Genetics and Genomics Foundation.
Outside of work, Dr. Elsea enjoys traveling, baking, and spending time with her two daughters and two dogs. She is an American
Position
Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States
Advisor
Global MAPS
Baylor Genetics
Houston, TX, United States
Education
Fellowship at Baylor College of Medicine
Clinical Biochemical Genetics
Houston, Texas, United States
Postdoctoral Fellowship at Baylor College of Medicine
Human Molecular Genetics
Houston, TX, United States
Postdoctoral Fellowship at Vanderbilt University
Enzymology
Nashville, TN, United States
PhD from Vanderbilt University
Nashville, TN, United States
BS from Missouri State University
Springfield, MO, United States
Certifications
Clinical Biochemical Genetics
American Board of Medical Genetics
Publications
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373
Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing
Adam D. Kennedy, Bryan M. Wittmann, Anne M. Evans, Luke A.D. Miller, Douglas R. Toal, Shaun Lonergan, Sarah H. Elsea and Kirk L. Pappan. Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing. J Mass Spectrom. Nov 2018. PMID: 30242936
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Brian J. Shayota, Claudia Soler‐Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. American Journal of Medical Genetics Association. Mar. 2019. PMID: 30848071
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Michael S. Grotewiel, V. Reid Sutton, Sarah H. Elsea, Ayman W. El-Hattab. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Molecular Genetics and Metabolism Reports. Mar 2018; PMID: 29269105
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
Kevin E.Glinton, Harvey L.Levy, Adam D.Kennedy, Kirk L.Pappan, Sarah H.Elsea. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Molecular Genetics and Metabolism Reports. Mar 2019; PMID: 30619714
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights
Gerarda Cappuccio, Taraka R. Donti, Leroy Hubert, Qin Sun, Sarah H. Elsea. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. Dec 2019; 42: 509– 518. PMID: 30684275
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. Epub 2017 Jun 24. PMID: 28673551
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations
Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. Pediatr Neurol. 2017 Oct;75:66-72. Epub 2017 Jun 29. PMID: 28823629
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies
Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. pii: S2213-2198(2017)30082-X. PMID: 28286158
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay
Kennedy AD, Pappan KL, Donti TR, Evans AM, Wulff JE, Miller LAD, Reid Sutton V, Sun Q, Miller MJ, Elsea SH. Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. Mol Genet Metab. 2017 Apr 9. PMID: 28412083
Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies
Jain M, Kennedy AD, Elsea SH, Miller MJ. Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies. Clin Chim Acta. 2017 Mar;466:105-111. PMID: 28069401
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb;173(2):460-470. PMID: 27860360
Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry
Jiang Y, Mistretta B, Elsea S, Sun Q. Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry. Clin Chim Acta. 2017 Jan;464:93-97. PMID: 27845054
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR.” Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.” Hum Genet. 2016 Oct;135(10):1161-74. PMID: 27386852
MBD5 Haploinsufficiency
Mullegama SV, Mendoza-Londono R, Elsea SH. MBD5 Haploinsufficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Oct 27. PMID: 27786435
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug;24(9):1376. PMID: 27514998
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SH. Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016;30:39-44. PMID: 26936850
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism
Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163
Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia
Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 Aug 30;7:12642. PMID: 27572891
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2016 Nov 30. PMID: 27900673
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome
Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. “Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.” Res Dev Disabil. 2015 Dec;47:27-38. PMID: 26323055
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency
Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. PMID: 26358771
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov;116(3):139-45. PMID: 26385305
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217
Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.” Am J Med Genet A. 2015 Oct;167A(10):2496. PMID: 26355286
Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation"
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.” Am J Med Genet A. 2015 Oct;167A(10):2496. PMID: 26355286
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. “Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.” Mol Cytogenet. 2015 Oct 5;8:75. PMID: 26442755
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome
Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. “Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.” J Clin Endocrinol Metab. 2015 May;100(5):1723-30. PMID: 25781356
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep;167A(9):2162-7. PMID: 25943046
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. PMID: 25956449
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder
Mullegama SV, Alaimo JT, Chen L, Elsea SH. “Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.” Int J Mol Sci. 2015 Apr 7;16(4):7627-43. PMID: 25853262
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity – own experience
Chen L, Mullegama SV, Alaimo JT, Elsea SH. “Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity – own experience.” Dev Period Med. 2015 Apr-Jun;19(2):149-56. PMID: 26384114
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes
Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun;23(6):781-9. PMID: 25271084. Epub 2014 Oct 1.