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Annette Feigenbaum

TitleAdjunct Scientist
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Overview 
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    Clinical Research in Biochemical Genetics


    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 Feb; 132(2):119-127. PMID: 33485801.
      View in: PubMed
    2. Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Mørkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):135-146. PMID: 33342467.
      View in: PubMed
    3. Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network. Orphanet J Rare Dis. 2020 04 10; 15(1):89. PMID: 32276663.
      View in: PubMed
    4. Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud. 2020 02; 6(1). PMID: 32014857.
      View in: PubMed
    5. Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. JIMD Rep. 2020 Mar; 52(1):3-10. PMID: 32154053.
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    6. McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet HG. Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework. Mol Genet Metab. 2019 Sep - Oct; 128(1-2):122-128. PMID: 31399326.
      View in: PubMed
    7. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345. PMID: 31326288.
      View in: PubMed
    8. Karaceper MD, Khangura SD, Wilson K, Coyle D, Brownell M, Davies C, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Hawken S, Hayeems RZ, Kronick JB, Laberge AM, Little J, Mhanni A, Mitchell JJ, Nakhla M, Potter M, Prasad C, Rockman-Greenberg C, Sparkes R, Stockler S, Ueda K, Vallance H, Wilson BJ, Chakraborty P, Potter BK. Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. Orphanet J Rare Dis. 2019 03 22; 14(1):70. PMID: 30902101.
      View in: PubMed
    9. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580. PMID: 30311390.
      View in: PubMed
    10. Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 04; 21(4):887-895. PMID: 30214072.
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    11. Li CQ, Barshop BA, Feigenbaum A, Khanna PC. Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8. PMID: 29875981.
      View in: PubMed
    12. Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298. PMID: 29093066.
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    13. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. Response to Newman et al. Genet Med. 2017 12; 19(12). PMID: 29215644.
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    14. Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96. PMID: 28766179.
      View in: PubMed
    15. Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). PMID: 28749475.
      View in: PubMed
    16. Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology. 2016 Oct; 58(10):1035-1042. PMID: 27516098.
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    17. Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184. PMID: 27312126.
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    18. Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, Davies C, Brownell M, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Laberge AM, Mhanni A, Miller FA, Mitchell JJ, Nakhla M, Prasad C, Rockman-Greenberg C, Sparkes R, Wilson BJ, Potter BK. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016 Feb 03; 11:12. PMID: 26841949.
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    19. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. PMID: 26586473.
      View in: PubMed
    20. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711.
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    21. Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol. 2015 Sep; 19(5):525-32. PMID: 26008862.
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    22. Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P. Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. JIMD Rep. 2015; 21:15-22. PMID: 25716610.
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    23. Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 05; 96(2):275-82. PMID: 25620204.
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    24. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. PMID: 25503497.
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    25. Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S. A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. Mol Genet Metab. 2015 Mar; 114(3):415-24. PMID: 25533024.
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    26. Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014 Nov; 113(3):171-6. PMID: 25266922.
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    27. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73. PMID: 25232857.
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    28. Nasr E, Mamak E, Feigenbaum A, Donner EJ, Mercimek-Mahmutoglu S. Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. J Child Neurol. 2015 Apr; 30(5):648-53. PMID: 24789515.
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    29. Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab. 2013 Dec; 110(4):446-53. PMID: 24144944.
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    30. Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May; 136(Pt 5):1534-43. PMID: 23482991.
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    31. Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. . 2013 Feb; 161A(2):360-70. PMID: 23322711.
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    32. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. PMID: 22961727.
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    33. Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A. Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2013 Jun; 15(6):415-22. PMID: 23222662.
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    34. Steenweg ME, van Berge L, van Berkel CG, de Coo IF, Temple IK, Brockmann K, Mendonça CI, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, van der Knaap MS. Early-onset LBSL: how severe does it get? Neuropediatrics. 2012 Dec; 43(6):332-8. PMID: 23065766.
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    35. Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Design and implementation of the first randomized controlled trial of coenzyme CoQ10 in children with primary mitochondrial diseases. Mitochondrion. 2012 Nov; 12(6):623-9. PMID: 23022402.
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    36. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3):308-14. PMID: 22958974.
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    37. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab. 2011 Sep-Oct; 104(1-2):107-11. PMID: 21802329.
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    38. Lichter-Konecki U, Diaz GA, Merritt JL, Feigenbaum A, Jomphe C, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Mokhtarani M, Scharschmidt B, Rhead W. Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. Mol Genet Metab. 2011 Aug; 103(4):323-9. PMID: 21612962.
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    39. van der Lei HD, van Berkel CG, van Wieringen WN, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper GC, van der Knaap MS. Genotype-phenotype correlation in vanishing white matter disease. Neurology. 2010 Oct 26; 75(17):1555-9. PMID: 20975056.
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    40. Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation. Biochem Biophys Res Commun. 2010 Nov 12; 402(2):443-7. PMID: 20965148.
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    41. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15; 330(6002):336. PMID: 20847235.
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    42. Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A. 2010 May; 152A(5):1268-72. PMID: 20425834.
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    43. 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:S97-105. PMID: 20188616.
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    44. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):341. PMID: 19694025.
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    45. Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):342. PMID: 19694026.
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    46. Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol. 2009 Jul; 41(1):27-33. PMID: 19520270.
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    47. Tam EW, Feigenbaum A, Addis JB, Blaser S, Mackay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH. A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. Neuropediatrics. 2008 Dec; 39(6):328-34. PMID: 19568996.
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    48. Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr; 125(3):319-26. PMID: 19184109.
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    49. Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009 Mar; 96(3):85-90. PMID: 19157942.
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    50. Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. . 2008 Nov 15; 146A(22):2885-90. PMID: 18925679.
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    51. Guerin AA, Feigenbaum A, Donner EJ, Yoon G. Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol. 2008 Nov; 39(5):363-4. PMID: 18940563.
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    52. Gerth C, Morel CF, Feigenbaum A, Levin AV. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS. 2008 Dec; 12(6):591-6. PMID: 18848477.
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    53. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008 Oct; 14(10):1480-5. PMID: 18825706.
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    54. Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007 Aug 11; 370(9586):504-10. PMID: 17693179.
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    55. van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology. 2007 Jul 10; 69(2):166-71. PMID: 17620549.
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    56. Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Late-onset cobalamin-C disorder: a challenging diagnosis. . 2007 May 01; 143A(9):979-84. PMID: 17431913.
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    57. Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec; 116(12):2113-9. PMID: 17146381.
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    58. Mahant S, Feigenbaum A. A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation. CMAJ. 2006 Nov 21; 175(11):1369. PMID: 17116901.
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    59. Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. . 2006 Oct 15; 140(20):2216-22. PMID: 16955414.
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    60. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52. PMID: 17079881.
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    61. Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. . 2006 Jul 15; 140(14):1542-52. PMID: 16770810.
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    62. Glass HC, Feigenbaum A, Clarke JT. A study on the nature of genetic metabolic practice at a major paediatric referral centre. J Inherit Metab Dis. 2006 Feb; 29(1):175-8. PMID: 16601885.
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    63. Ben-Omran TI, Blaser S, Phillips H, Callahan J, Feigenbaum A. Atypical phenotype in a boy with a maple syrup urine disease. J Inherit Metab Dis. 2006 Feb; 29(1):195-200. PMID: 16601891.
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    64. Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. . 2005 Jun 15; 135(3):289-91. PMID: 15887277.
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    65. Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol. 2005 May; 62(5):745-7. PMID: 15883261.
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    66. Blaser S, Feigenbaum A. A neuroimaging approach to inborn errors of metabolism. Neuroimaging Clin N Am. 2004 May; 14(2):307-29, ix. PMID: 15182821.
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    67. Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. A six-month-old infant with liver steatosis. J Pediatr. 2004 Feb; 144(2):258-63. PMID: 14760272.
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    68. Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. . 2004 Jan 15; 124A(2):142-7. PMID: 14699612.
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    69. van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb; 53(2):252-8. PMID: 12557294.
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    70. Feigenbaum A. Answers to missing mtDNA found at last. Pediatr Res. 2002 Sep; 52(3):319-20. PMID: 12193660.
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    71. Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep; 52(3):311-7. PMID: 12205643.
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    72. Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum AS. Selective screening for neonatal galactosemia: an alternative approach. Acta Paediatr. 2001 Aug; 90(8):948-9. PMID: 11529548.
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    73. Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res. 2001 Jul; 42(7):1134-42. PMID: 11441142.
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    74. Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH. A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. Am J Hum Genet. 2001 Feb; 68(2):386-96. PMID: 11156534.
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    75. Smith ML, Saltzman J, Klim P, Hanley WB, Feigenbaum A, Clarke JT. Neuropsychological function in mild hyperphenylalaninemia. Am J Ment Retard. 2000 Mar; 105(2):69-80. PMID: 10755172.
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    76. Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, Skomorowski MA, Feigenbaum AS, O'Brien K, Hellmann J, Ryan G, Velsher L, Chitayat D. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. Am J Med Genet. 1999 Jul 02; 85(1):38-47. PMID: 10377011.
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    77. Jankov RP, Boerkoel CF, Hellmann J, Sirkin WL, Tümer Z, Horn N, Feigenbaum A. Lethal neonatal Menkes' disease with severe vasculopathy and fractures. Acta Paediatr. 1998 Dec; 87(12):1297-300. PMID: 9894833.
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    78. Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998 Jun; 62(6):1312-9. PMID: 9585612.
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    79. Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 1997 Nov; 61(5):1053-8. PMID: 9345098.
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    80. Gibson KM, Feigenbaum AS. Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency. J Inherit Metab Dis. 1997 Sep; 20(5):712-3. PMID: 9323571.
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    81. Hanley WB, Demshar H, Preston MA, Borczyk A, Schoonheyt WE, Clarke JT, Feigenbaum A. Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early Hum Dev. 1997 Jan 03; 47(1):87-96. PMID: 9118832.
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    82. Strasberg P, Warren I, Skomorowski MA, Feigenbaum A. Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report. Hum Mutat. 1997; 10(1):82-3. PMID: 9222766.
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    83. Hanley WB, Feigenbaum AS, Clarke JT, Schoonheyt WE, Austin VJ. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr. 1996 Jul; 155 Suppl 1:S145-7. PMID: 8828632.
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    84. Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ. The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet. 1996 Apr 24; 62(4):404-9. PMID: 8723072.
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    85. Nowaczyk MJ, Feigenbaum A, Silver MM, Callahan J, Levin A, Jay V. Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. J Inherit Metab Dis. 1996; 19(5):655-60. PMID: 8892023.
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    86. Pitkänen S, Feigenbaum A, Laframboise R, Robinson BH. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. J Inherit Metab Dis. 1996; 19(5):675-86. PMID: 8892026.
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    87. Rovet J, Krekewich K, Perlman K, Weksberg R, Holland J, Feigenbaum A. Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20. Dev Med Child Neurol. 1995 Jul; 37(7):637-44. PMID: 7542211.
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    88. Feigenbaum A, Bergeron C, Richardson R, Wherrett J, Robinson B, Weksberg R. Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome? Am J Med Genet. 1994 Jan 01; 49(1):118-24. PMID: 8172238.
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    89. Hanley WB, Feigenbaum A, Clarke JT, Schoonheyt W, Austin V. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Lancet. 1993 Oct 16; 342(8877):997. PMID: 8105251.
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    90. Feigenbaum AS, Robinson BH. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. Genomics. 1993 Aug; 17(2):376-81. PMID: 8406489.
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    91. Koren G, Graham K, Feigenbaum A, Einarson T. Evaluation and counseling of teratogenic risk: the motherisk approach. J Clin Pharmacol. 1993 May; 33(5):405-11. PMID: 8331196.
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    92. Graham K, Feigenbaum A, Pastuszak A, Nulman I, Weksberg R, Einarson T, Goldberg S, Ashby S, Koren G. Pregnancy outcome and infant development following gestational cocaine use by social cocaine users in Toronto, Canada. Clin Invest Med. 1992 Aug; 15(4):384-94. PMID: 1516296.
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    93. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 1992 Apr; 50(4):852-8. PMID: 1550128.
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    94. Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. N Engl J Med. 1990 Jul 05; 323(1):6-12. PMID: 2355960.
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