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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Ann Neurol. 2023 10; 94(4):696-712.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. PMID: 37255483; PMCID: PMC10763625.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. Mol Genet Metab. 2023 11; 140(3):107668.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. PMID: 37549443; PMCID: PMC10811274.
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PubMed Mentions: Fields:
Translation:
Humans
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Response to Grosse et al. Am J Hum Genet. 2023 Jun 01; 110(6):1017.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 37267897; PMCID: PMC10256999.
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PubMed Mentions: Fields:
-
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes. Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1):100941.
Feigenbaum A. PMID: 36620389; PMCID: PMC9817477.
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PubMed Mentions:
2
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Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome. Mol Genet Metab Rep. 2022 Dec; 33:100920.
DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. PMID: 36245961; PMCID: PMC9554820.
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PubMed Mentions:
1
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet. 2022 09 01; 109(9):1605-1619.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 36007526; PMCID: PMC9502059.
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PubMed Mentions:
33 Fields:
Translation:
HumansPHPublic Health
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency. Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1):100894.
Feigenbaum A, Lamale-Smith L, Weinstein L. PMID: 36620386; PMCID: PMC9817480.
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PubMed Mentions:
-
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. Cold Spring Harb Mol Case Stud. 2021 06; 7(3).
Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF. PMID: 34117075; PMCID: PMC8208044.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy. Am J Med Genet A. 2021 06; 185(6):1848-1853.
Tise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM. PMID: 33683010.
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PubMed Mentions:
2 Fields:
Translation:
HumansPHPublic Health
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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia. Mol Genet Metab Rep. 2021 Jun; 27:100735.
Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D. PMID: 33732618; PMCID: PMC7937551.
View in:
PubMed Mentions:
3
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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127.
Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. PMID: 33485801; PMCID: PMC8684368.
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PubMed Mentions:
3 Fields:
Translation:
Humans
-
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators. PMID: 33157007; PMCID: PMC7675004.
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PubMed Mentions:
59 Fields:
Translation:
Humans
-
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):135-146.
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. PMID: 33342467.
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PubMed Mentions:
9 Fields:
Translation:
HumansPHPublic Health
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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.
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, Canadian Inherited Metabolic Diseases Research Network. PMID: 32276663; PMCID: PMC7149838.
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PubMed Mentions:
5 Fields:
Translation:
Humans
-
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).
Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. PMID: 32014857; PMCID: PMC6996516.
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PubMed Mentions:
9 Fields:
Translation:
Humans
-
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.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. PMID: 32154053; PMCID: PMC7052692.
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PubMed Mentions:
6
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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci. 2019 11; 46(6):717-726.
Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK, Canadian Inherited Metabolic Diseases Research Network. PMID: 31387656.
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PubMed Mentions:
2 Fields:
Translation:
Humans
-
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.
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. PMID: 31399326.
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PubMed Mentions:
3 Fields:
Translation:
HumansCellsPHPublic Health
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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.
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. PMID: 31326288.
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PubMed Mentions:
7 Fields:
Translation:
Humans
-
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.
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, Canadian Inherited Metabolic Diseases Research Network (CIMDRN). PMID: 30902101; PMCID: PMC6431026.
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PubMed Mentions:
5 Fields:
Translation:
HumansPHPublic Health
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Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 03; 42(2):243-253.
Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P, Urea Cycle Disorders Consortium. PMID: 30671983; PMCID: PMC7439789.
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PubMed Mentions:
10 Fields:
Translation:
Humans
-
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.
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, ClinGen Inborn Errors of Metabolism Working Group. PMID: 30311390; PMCID: PMC6556116.
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PubMed Mentions:
25 Fields:
Translation:
Humans
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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.
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. PMID: 30214072; PMCID: PMC6417984.
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PubMed Mentions:
22 Fields:
Translation:
Humans
-
Natural History of Vanishing White Matter. Ann Neurol. 2018 08; 84(2):274-288.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI, VWM Research Group, van der Knaap MS. PMID: 30014503; PMCID: PMC6175238.
View in:
PubMed Mentions:
41 Fields:
Translation:
Humans
-
Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 07; 41(4):657-667.
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S, Members of the Urea Cycle Disorders Consortium. PMID: 29423830; PMCID: PMC6041144.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8.
Li CQ, Barshop BA, Feigenbaum A, Khanna PC. PMID: 29875981; PMCID: PMC5965393.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology. 2017 11 28; 89(22):2297-2298.
Friedman J, Feigenbaum A, Chuang N, Silhavy J, Gleeson JG. PMID: 29093066; PMCID: PMC5705245.
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PubMed Mentions:
11 Fields:
Translation:
Humans
-
Response to Newman et al. Genet Med. 2017 12; 19(12).
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. PMID: 29215644; PMCID: PMC7787267.
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PubMed Mentions: Fields:
-
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96.
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. PMID: 28766179; PMCID: PMC5953897.
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PubMed Mentions:
2
-
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12).
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. PMID: 28749475; PMCID: PMC7804217.
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PubMed Mentions:
100 Fields:
Translation:
Humans
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Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184.
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. PMID: 27312126.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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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.
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, Canadian Inherited Metabolic Diseases Research Network. PMID: 26841949; PMCID: PMC4741015.
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PubMed Mentions:
20 Fields:
Translation:
HumansPHPublic Health
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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.
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. PMID: 26296711; PMCID: PMC4804346.
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PubMed Mentions:
4 Fields:
Translation:
HumansCTClinical Trials
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Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol. 2015 Sep; 19(5):525-32.
Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. PMID: 26008862.
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PubMed Mentions:
14 Fields:
Translation:
Humans
-
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. JIMD Rep. 2015; 21:15-22.
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, Canadian Inherited Metabolic Diseases Research Network. PMID: 25716610; PMCID: PMC4470950.
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PubMed Mentions:
2
-
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 05; 96(2):275-82.
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. PMID: 25620204; PMCID: PMC4320263.
View in:
PubMed Mentions:
98 Fields:
Translation:
HumansCells
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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8.
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, UCD Consortium, Scharschmidt BF. PMID: 25503497; PMCID: PMC4465427.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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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.
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. PMID: 25266922.
View in:
PubMed Mentions:
38 Fields:
Translation:
Humans
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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.
Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. PMID: 25232857.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCTClinical Trials
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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May; 136(Pt 5):1534-43.
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. PMID: 23482991.
View in:
PubMed Mentions:
37 Fields:
Translation:
Humans
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Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. Am J Med Genet A. 2013 Feb; 161A(2):360-70.
Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC. PMID: 23322711.
View in:
PubMed Mentions:
28 Fields:
Translation:
Humans
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Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9.
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. PMID: 22961727; PMCID: PMC3557606.
View in:
PubMed Mentions:
39 Fields:
Translation:
HumansCTClinical Trials
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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.
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, Canadian Inherited Metabolic Diseases Research Network. PMID: 23222662; PMCID: PMC3837195.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
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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.
Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. PMID: 23022402; PMCID: PMC3975832.
View in:
PubMed Mentions:
14 Fields:
Translation:
Humans
-
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab. 2011 Sep-Oct; 104(1-2):107-11.
Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. PMID: 21802329; PMCID: PMC3171515.
View in:
PubMed Mentions:
28 Fields:
Translation:
Humans
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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation. Biochem Biophys Res Commun. 2010 Nov 12; 402(2):443-7.
Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA. PMID: 20965148.
View in:
PubMed Mentions:
15 Fields:
Translation:
Humans
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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15; 330(6002):336.
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. PMID: 20847235.
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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.
Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. PMID: 20425834.
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16 Fields:
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HumansCells
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105.
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. PMID: 20188616; PMCID: PMC2858794.
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50 Fields:
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Humans
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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):341.
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. PMID: 19694025.
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1 Fields:
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HumansCells
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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. Hum Genet. 2009 Aug; 126(2):342.
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. PMID: 19694026.
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Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol. 2009 Jul; 41(1):27-33.
Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. PMID: 19520270.
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13 Fields:
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HumansCells
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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.
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. PMID: 19157942; PMCID: PMC3219055.
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71 Fields:
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Humans
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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet A. 2008 Nov 15; 146A(22):2885-90.
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. PMID: 18925679; PMCID: PMC2597641.
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10 Fields:
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HumansPHPublic Health
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Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol. 2008 Nov; 39(5):363-4.
Guerin AA, Feigenbaum A, Donner EJ, Yoon G. PMID: 18940563.
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14 Fields:
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Humans
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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS. 2008 Dec; 12(6):591-6.
Gerth C, Morel CF, Feigenbaum A, Levin AV. PMID: 18848477.
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18 Fields:
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Humans
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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.
Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. PMID: 18825706.
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28 Fields:
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Humans
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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.
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, Sapropterin Research Group. PMID: 17693179.
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95 Fields:
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HumansCTClinical Trials
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Late-onset cobalamin-C disorder: a challenging diagnosis. Am J Med Genet A. 2007 May 01; 143A(9):979-84.
Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. PMID: 17431913.
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18 Fields:
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Humans
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Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 Dec; 116(12):2113-9.
Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. PMID: 17146381.
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9 Fields:
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Humans
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A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation. CMAJ. 2006 Nov 21; 175(11):1369.
Mahant S, Feigenbaum A. PMID: 17116901; PMCID: PMC1635766.
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Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. Am J Med Genet A. 2006 Oct 15; 140(20):2216-22.
Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. PMID: 16955414.
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10 Fields:
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Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52.
Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. PMID: 17079881.
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4 Fields:
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Humans
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Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am J Med Genet A. 2006 Jul 15; 140(14):1542-52.
Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. PMID: 16770810.
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25 Fields:
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HumansCells
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The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. Ophthalmic Genet. 2006 Mar; 27(1):1-7.
Miller GL, Somani S, Nowaczyk MJ, Feigenbaum A, Davidson RG, Costa T, Levin AV. PMID: 16543195.
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2 Fields:
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HumansCells
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Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A. 2005 Jun 15; 135(3):289-91.
Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. PMID: 15887277.
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18 Fields:
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HumansCells
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A neuroimaging approach to inborn errors of metabolism. Neuroimaging Clin N Am. 2004 May; 14(2):307-29, ix.
Blaser S, Feigenbaum A. PMID: 15182821.
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8 Fields:
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Humans
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A six-month-old infant with liver steatosis. J Pediatr. 2004 Feb; 144(2):258-63.
Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. PMID: 14760272; PMCID: PMC2954655.
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2 Fields:
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Humans
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Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A. 2004 Jan 15; 124A(2):142-7.
Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. PMID: 14699612.
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17 Fields:
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Humans
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A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb; 53(2):252-8.
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. PMID: 12557294.
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54 Fields:
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HumansCells