Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Gerard T. Berry, M.D.

Title
Institution
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Address
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Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R01HD033922 (BERRY, GERARD THOMAS) Sep 1, 1995 - Aug 31, 1999
    NIH
    TRANSPORT MEDIATED REGULATION OF CELLULAR MYOINOSITOL
    Role: Principal Investigator
  2. P01HD029847 (SEGAL, STANTON) Aug 1, 1993 - Jul 31, 2001
    NIH
    ENIGMA OF GALACTOSEMIA: SEARCHING FOR ANSWERS
    Role: Co-Principal Investigator
  3. R01DK040382 (BERRY, GERARD THOMAS) Sep 1, 1988 - Aug 31, 1994
    NIH
    BIOCHEMICAL BASIS OF DIABETIC ANGIOPATHY
    Role: Principal Investigator
  4. M01RR000240 (ALTSCHULER, STEVEN M) Dec 1, 1976 - Sep 29, 2006
    NIH/NCRR
    General Clinical Research Center
    Role: Co-Principal Investigator

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT. The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2022 Dec 13. PMID: 36512573.
    Citations:    Fields:    
  2. Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. J Inherit Metab Dis. 2022 11; 45(6):1106-1117. PMID: 36093991; PMCID: PMC9643640.
    Citations:    Fields:    Translation:Humans
  3. Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis. 2022 09 02; 17(1):331. PMID: 36056436; PMCID: PMC9438182.
    Citations:    Fields:    Translation:Humans
  4. Fridovich-Keil JL, Berry GT. Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):33-39. PMID: 35882174.
    Citations:    Fields:    
  5. Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, Brand H, Talkowski M, Lee EA, Agrawal PB. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. PMID: 35768521; PMCID: PMC9437004.
    Citations:    Fields:    
  6. Tiwary H, Hecht LE, Brucker WJ, Berry GT, Rodig NM. The development of end stage renal disease in two patients with PMM2-CDG. JIMD Rep. 2022 Mar; 63(2):131-136. PMID: 35281664; PMCID: PMC8898725.
    Citations:    
  7. Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. PMID: 35027292; PMCID: PMC9164313.
    Citations:    Fields:    Translation:Humans
  8. Rana M, Cuttin K, Berry GT, Torres A. Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. JIMD Rep. 2021 Nov; 62(1):30-34. PMID: 34765395; PMCID: PMC8574172.
    Citations:    
  9. Waisbren SE, Tran C, Demirbas D, Gubbels CS, Hsiao M, Daesety V, Berry GT. Transient developmental delays in infants with Duarte-2 variant galactosemia. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):132-138. PMID: 34391645.
    Citations: 1     Fields:    Translation:Humans
  10. Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle E. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Ophthalmic Genet. 2021 10; 42(5):612-614. PMID: 33949289; PMCID: PMC8903185.
    Citations:    Fields:    Translation:Humans
  11. Stergachis AB, Krier JB, Merugumala SK, Berry GT, Lin AP. Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia. Mol Genet Metab Rep. 2021 Jun; 27:100742. PMID: 33763331.
    Citations: 1     
  12. Berry GT, Freeze HH, Morava E. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia. 2021 02; 62(2):335-336. PMID: 33576051; PMCID: PMC8100982.
    Citations: 1     Fields:    Translation:HumansCells
  13. Ficicioglu C, Demirbas D, Derks B, Pai GS, Timson DJ, Rubio-Gozalbo ME, Berry GT. [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. JIMD Rep. 2021 May; 59(1):104-109. PMID: 33977035.
    Citations:    
  14. McGraw CM, Mahida S, Jayakar P, Koh HY, Taylor A, Resnick T, Rodan L, Schwartz MA, Ejaz A, Sankaran VG, Berry G, Poduri A. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. PMID: 33497533.
    Citations: 2     Fields:    Translation:Humans
  15. D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. PMID: 33037779.
    Citations: 1     Fields:    Translation:HumansCells
  16. Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 01; 44(1):253-263. PMID: 32885845.
    Citations: 7     Fields:    Translation:HumansCellsCTClinical Trials
  17. Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021 01; 23(1):202-210. PMID: 32807972; PMCID: PMC7790741.
    Citations: 5     Fields:    Translation:Humans
  18. Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. PMID: 32713002.
    Citations: 4     Fields:    Translation:Humans
  19. Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. PMID: 32828637.
    Citations: 1     Fields:    Translation:HumansCells
  20. Ahtam B, Waisbren SE, Anastasoaie V, Berry GT, Brown M, Petrides S, Afacan O, Prabhu SP, Schomer D, Grant PE, Greenstein PE. Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. J Inherit Metab Dis. 2020 11; 43(6):1205-1218. PMID: 32592186.
    Citations: 2     Fields:    Translation:HumansCells
  21. Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437. PMID: 32275123.
    Citations: 6     Fields:    Translation:Humans
  22. Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. PMID: 32685343; PMCID: PMC7358669.
    Citations: 1     
  23. Brucker WJ, Croteau SE, Prensner JR, Cullion K, Heeney MM, Lo J, McAlvin JB, Peeler K, Shah N, Yee CSK, Berry GT, Bodamer O. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020 07; 43(4):880-890. PMID: 32064623.
    Citations: 7     Fields:    Translation:HumansCells
  24. Haskovic M, Coelho AI, Bierau J, Vanoevelen JM, Steinbusch LKM, Zimmermann LJI, Villamor-Martinez E, Berry GT, Rubio-Gozalbo ME. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. J Inherit Metab Dis. 2020 05; 43(3):392-408. PMID: 31808946.
    Citations: 10     Fields:    Translation:HumansAnimals
  25. Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol. 2020 03; 145(3):1008-1011. PMID: 31775018; PMCID: PMC7062559.
    Citations: 5     Fields:    Translation:HumansCells
  26. Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep. 2019 Jul; 48(1):26-35. PMID: 31392110; PMCID: PMC6606986.
    Citations: 2     
  27. Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. PMID: 31018246; PMCID: PMC6692656.
    Citations: 16     Fields:    Translation:HumansPHPublic Health
  28. Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. PMID: 31029175; PMCID: PMC6486996.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  29. Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. PMID: 31240156; PMCID: PMC6498818.
    Citations: 2     
  30. Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. PMID: 30718057.
    Citations: 1     Fields:    Translation:HumansCells
  31. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2019 01; 42(1):169-177. PMID: 30740733.
    Citations: 20     Fields:    Translation:HumansCellsCTClinical Trials
  32. Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20; 3(3-4):157-170. PMID: 30613471.
    Citations:    
  33. Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776. PMID: 30548380.
    Citations: 5     Fields:    Translation:HumansCells
  34. Almontashiri NAM, Berry GT, Majzoub J, Peake RWA. Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability. Clin Chem. 2018 12; 64(12):1785-1787. PMID: 30487191.
    Citations: 1     Fields:    Translation:Humans
  35. Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 11 26; 13(1):212. PMID: 30477550.
    Citations: 5     Fields:    Translation:HumansCells
  36. Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. PMID: 30475435.
    Citations: 7     Fields:    Translation:Humans
  37. Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780. PMID: 30295347; PMCID: PMC6295419.
    Citations: 17     Fields:    Translation:HumansCells
  38. Almontashiri NAM, Demirbas D, Berry GT, Peake RWA. Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Clin Chem. 2018 08; 64(8):1260-1262. PMID: 30054302.
    Citations: 1     Fields:    Translation:Humans
  39. Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. PMID: 30057141.
    Citations:    Fields:    Translation:Humans
  40. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2018 Jul 09. PMID: 29987492.
    Citations:    Fields:    
  41. Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. PMID: 29922587; PMCID: PMC6005789.
    Citations: 4     
  42. Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. PMID: 30031689; PMCID: PMC6557438.
    Citations: 3     Fields:    Translation:Humans
  43. Rodan LH, Aldubayan SH, Berry GT, Levy HL. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. PMID: 29135898.
    Citations: 1     Fields:    Translation:Humans
  44. Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. PMID: 29685658; PMCID: PMC5976541.
    Citations: 16     Fields:    Translation:Humans
  45. Demirbas D, Brucker WJ, Berry GT. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am. 2018 04; 65(2):337-352. PMID: 29502917.
    Citations: 7     Fields:    Translation:Humans
  46. Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. PMID: 29550355.
    Citations: 8     Fields:    Translation:Humans
  47. Glushko T, Kushchayev SV, Trifanov D, Salei A, Morales D, Berry G, Mackey J, Teytelboym OM. Focal Hepatic Glycogenosis in a Patient With Uncontrolled Diabetes Mellitus Type 1. J Comput Assist Tomogr. 2018 Mar/Apr; 42(2):230-235. PMID: 28937487.
    Citations: 1     Fields:    Translation:Humans
  48. Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018 06; 83:188-196. PMID: 29409891.
    Citations: 21     Fields:    Translation:Humans
  49. Rodan LH, Aldubayan SH, Berry GT, Levy HL. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. PMID: 29095391.
    Citations: 4     Fields:    Translation:Humans
  50. Vanoevelen JM, van Erven B, Bierau J, Huang X, Berry GT, Vos R, Coelho AI, Rubio-Gozalbo ME. Impaired fertility and motor function in a zebrafish model for classic galactosemia. J Inherit Metab Dis. 2018 01; 41(1):117-127. PMID: 28913702; PMCID: PMC5786655.
    Citations: 10     Fields:    Translation:Animals
  51. Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. PMID: 28887792; PMCID: PMC6122020.
    Citations: 1     
  52. Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. PMID: 28726122; PMCID: PMC5953889.
    Citations: 7     
  53. Haynes RL, Frelinger AL, Giles EK, Goldstein RD, Tran H, Kozakewich HP, Haas EA, Gerrits AJ, Mena OJ, Trachtenberg FL, Paterson DS, Berry GT, Adeli K, Kinney HC, Michelson AD. High serum serotonin in sudden infant death syndrome. Proc Natl Acad Sci U S A. 2017 07 18; 114(29):7695-7700. PMID: 28674018; PMCID: PMC5530643.
    Citations: 22     Fields:    Translation:Humans
  54. van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertil Steril. 2017 07; 108(1):168-174. PMID: 28579413.
    Citations: 13     Fields:    Translation:Humans
  55. Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. PMID: 28353532.
    Citations: 2     Fields:    Translation:HumansCells
  56. O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. PMID: 28408159.
    Citations: 4     Fields:    Translation:Humans
  57. Berry GT. Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. Mol Genet Metab Rep. 2017 Sep; 12:1. PMID: 28243576; PMCID: PMC5320054.
    Citations:    
  58. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E. UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Mol Genet Metab. 2017 04; 120(4):370-377. PMID: 28189603.
    Citations: 26     Fields:    Translation:HumansCTClinical Trials
  59. Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. PMID: 28141776.
    Citations: 7     Fields:    Translation:Humans
  60. Sade Y, Toker L, Kara NZ, Einat H, Rapoport S, Moechars D, Berry GT, Bersudsky Y, Agam G. IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes. Transl Psychiatry. 2016 12 06; 6(12):e968. PMID: 27922641.
    Citations: 17     Fields:    Translation:Animals
  61. Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017 03; 40(2):171-176. PMID: 27858262; PMCID: PMC5306419.
    Citations: 34     Fields:    Translation:Humans
  62. Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. PMID: 27913098; PMCID: PMC5346465.
    Citations: 12     Fields:    Translation:Humans
  63. Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP. The galactosemia network (GalNet). J Inherit Metab Dis. 2017 03; 40(2):169-170. PMID: 27837294.
    Citations: 4     Fields:    Translation:Humans
  64. Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. PMID: 27770045.
    Citations: 7     Fields:    Translation:Humans
  65. Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. PMID: 27626066.
    Citations: 19     Fields:    
  66. Anselm I, MacCuaig M, Prabhu SP, Berry GT. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113. PMID: 27325426; PMCID: PMC5272842.
    Citations:    
  67. Richardson A, Berry GT, Garganta C, Abbott MA. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. JIMD Rep. 2017; 32:25-32. PMID: 27295195; PMCID: PMC5355379.
    Citations: 2     
  68. Beinvogl BC, Rosman NP, Baumer FM, Rodan LH, Forster CS, Kwon AH, Berry GT. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). PMID: 27252036.
    Citations:    Fields:    Translation:Humans
  69. Rodan LH, Berry GT. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. PMID: 27130472; PMCID: PMC5388641.
    Citations: 8     
  70. Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. PMID: 26931382; PMCID: PMC4907823.
    Citations: 17     Fields:    Translation:HumansCells
  71. Anselm I, MacCuaig M, Prabhu SB, Berry GT. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111. PMID: 26960556; PMCID: PMC5388636.
    Citations: 2     
  72. Balakrishnan B, Chen W, Tang M, Huang X, Cakici DD, Siddiqi A, Berry G, Lai K. Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. Biochem Biophys Res Commun. 2016 Jan 29; 470(1):205-212. PMID: 26773505; PMCID: PMC4728015.
    Citations: 9     Fields:    Translation:AnimalsCells
  73. Coelho AI, Berry GT, Rubio-Gozalbo ME. Galactose metabolism and health. Curr Opin Clin Nutr Metab Care. 2015 Jul; 18(4):422-7. PMID: 26001656.
    Citations: 50     Fields:    Translation:HumansCells
  74. Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. JIMD Rep. 2015; 24:91-6. PMID: 26006721; PMCID: PMC4582027.
    Citations: 9     
  75. Tran TT, Liu Y, Zwick ME, Ramachandran D, Cutler DJ, Huang X, Berry GT, Fridovich-Keil JL. A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. JIMD Rep. 2015; 19:1-6. PMID: 25681079; PMCID: PMC4501235.
    Citations:    
  76. Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. PMID: 25428120; PMCID: PMC4351723.
    Citations: 11     Fields:    Translation:Humans
  77. Hecht LE, Wessel AE, Levy HL, Berry GT. The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9. PMID: 25155776.
    Citations:    
  78. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. PMID: 24811917.
    Citations: 64     Fields:    Translation:Humans
  79. Zsengellér ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, Venditti CP, Berry GT, Rosen S. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014 Nov; 29(11):2139-46. PMID: 24865477.
    Citations: 23     Fields:    Translation:HumansCells
  80. Reid A, de Klerk NH, Magnani C, Ferrante D, Berry G, Musk AW, Merler E. Mesothelioma risk after 40 years since first exposure to asbestos: a pooled analysis. Thorax. 2014 Sep; 69(9):843-50. PMID: 24842786.
    Citations: 29     Fields:    Translation:HumansPHPublic Health
  81. Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul; 112(3):191-7. PMID: 24857409.
    Citations: 12     Fields:    Translation:Humans
  82. Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT. Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. JPEN J Parenter Enteral Nutr. 2015 Sep; 39(7):875-9. PMID: 24618664.
    Citations: 6     Fields:    Translation:Humans
  83. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. PMID: 24667081.
    Citations: 78     Fields:    Translation:Humans
  84. Abbott GW, Tai KK, Neverisky DL, Hansler A, Hu Z, Roepke TK, Lerner DJ, Chen Q, Liu L, Zupan B, Toth M, Haynes R, Huang X, Demirbas D, Buccafusca R, Gross SS, Kanda VA, Berry GT. KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. Sci Signal. 2014 Mar 04; 7(315):ra22. PMID: 24595108.
    Citations: 37     Fields:    Translation:AnimalsCells
  85. Li Y, Huang X, Harmonay L, Liu Y, Kellogg MD, Fridovich-Keil JL, Berry GT. Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. Clin Chem. 2014 May; 60(5):783-90. PMID: 24578239.
    Citations: 2     Fields:    Translation:HumansCells
  86. Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. PMID: 24549054.
    Citations: 14     Fields:    Translation:Humans
  87. Van Calcar SC, Bernstein LE, Rohr FJ, Yannicelli S, Berry GT, Scaman CH. Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. J Agric Food Chem. 2014 Feb 12; 62(6):1397-402. PMID: 24456566.
    Citations: 3     Fields:    Translation:HumansAnimals
  88. Niewczas MA, Sirich TL, Mathew AV, Skupien J, Mohney RP, Warram JH, Smiles A, Huang X, Walker W, Byun J, Karoly ED, Kensicki EM, Berry GT, Bonventre JV, Pennathur S, Meyer TW, Krolewski AS. Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study. Kidney Int. 2014 May; 85(5):1214-24. PMID: 24429397.
    Citations: 93     Fields:    Translation:Humans
  89. Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. PMID: 24288412.
    Citations: 13     Fields:    Translation:HumansCells
  90. Toker L, Bersudsky Y, Plaschkes I, Chalifa-Caspi V, Berry GT, Buccafusca R, Moechars D, Belmaker RH, Agam G. Inositol-related gene knockouts mimic lithium's effect on mitochondrial function. Neuropsychopharmacology. 2014 Jan; 39(2):319-28. PMID: 23924600.
    Citations: 19     Fields:    Translation:AnimalsCells
  91. Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J, Venditti CP. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A. 2013 Aug 13; 110(33):13552-7. PMID: 23898205.
    Citations: 41     Fields:    Translation:HumansAnimalsCTClinical Trials
  92. van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME. Fertility preservation in female classic galactosemia patients. Orphanet J Rare Dis. 2013 Jul 16; 8:107. PMID: 23866841.
    Citations: 10     Fields:    Translation:Humans
  93. Kinney HC, McDonald AG, Minter ME, Berry GT, Poduri A, Goldstein RD. Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. Forensic Sci Med Pathol. 2013 Sep; 9(3):418-21. PMID: 23852931.
    Citations: 6     Fields:    Translation:Humans
  94. Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 07; 80(19):1762-70. PMID: 23596069; PMCID: PMC3719425.
    Citations: 74     Fields:    Translation:HumansCells
  95. Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May; 54(5):e81-5. PMID: 23550958.
    Citations: 21     Fields:    Translation:Humans
  96. Cleary RT, Sun H, Huynh T, Manning SM, Li Y, Rotenberg A, Talos DM, Kahle KT, Jackson M, Rakhade SN, Berry G, Berry G, Jensen FE. Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizures. PLoS One. 2013; 8(3):e57148. PMID: 23536761.
    Citations: 57     Fields:    Translation:AnimalsCells
  97. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1157. PMID: 22777401.
    Citations:    
  98. Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA, Rubio-Gozalbo ME, Berry GT. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis. 2013 Sep; 36(5):779-86. PMID: 23053469.
    Citations: 9     Fields:    Translation:Humans
  99. Zhang Y, Landau YE, Miller DT, Marsden D, Berry GT, Kellogg MD. Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Clin Biochem. 2012 Dec; 45(18):1583-6. PMID: 22971419.
    Citations: 3     Fields:    Translation:Humans
  100. Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry GT, Fridovich-Keil JL. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Mol Genet Metab. 2012 Aug; 106(4):442-54. PMID: 22743281.
    Citations: 12     Fields:    Translation:HumansCells
  101. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. PMID: 22690784.
    Citations: 29     Fields:    Translation:Humans
  102. Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. PMID: 22771013.
    Citations: 5     Fields:    Translation:Humans
  103. Thakuria JV, Zaranek AW, Church GM, Berry GT. Back to the future: from genome to metabolome. Hum Mutat. 2012 May; 33(5):809-12. PMID: 22431014.
    Citations:    Fields:    Translation:Humans
  104. Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, Guo CY, Rubio-Gozalbo E, Berry G, Gordon CM. Skeletal health in adult patients with classic galactosemia. Osteoporos Int. 2013 Feb; 24(2):501-9. PMID: 22525982.
    Citations: 13     Fields:    Translation:Humans
  105. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Scheweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1037-49. PMID: 22450714.
    Citations: 27     Fields:    Translation:HumansPHPublic Health
  106. Berry GT. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012 May; 106(1):7-11. PMID: 22483615.
    Citations: 15     Fields:    Translation:HumansPHPublic Health
  107. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. PMID: 22422049; PMCID: PMC3763716.
    Citations: 89     Fields:    Translation:Humans
  108. Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10; 90(2):363-8. PMID: 22305527.
    Citations: 31     Fields:    Translation:HumansCells
  109. Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. PMID: 21779791.