| Year |
Citation |
Score |
| 2020 |
Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features. Clinical Genetics. PMID 32812661 DOI: 10.1111/Cge.13835 |
0.344 |
|
| 2020 |
Imagawa E, Diaz GA, Oishi K. A novel Romani microdeletion variant in the promoter sequence of causes citrullinemia type I. Molecular Genetics and Metabolism Reports. 24: 100619. PMID 32637322 DOI: 10.1016/J.Ymgmr.2020.100619 |
0.363 |
|
| 2018 |
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, et al. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. PMID 29307858 DOI: 10.1016/J.Mito.2018.01.001 |
0.349 |
|
| 2016 |
Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Molecular Genetics and Metabolism. PMID 27590926 DOI: 10.1016/J.Ymgme.2016.08.008 |
0.301 |
|
| 2016 |
Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. Clinical Genetics. PMID 27415407 DOI: 10.1111/Cge.12834 |
0.304 |
|
| 2016 |
Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, ... ... Diaz GA, et al. A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. Plos Genetics. 12: e1005848. PMID 27120463 DOI: 10.1371/Journal.Pgen.1005848 |
0.363 |
|
| 2016 |
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, ... ... Diaz GA, et al. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology. PMID 27065010 DOI: 10.1038/Nbt.3514 |
0.361 |
|
| 2015 |
Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Human Mutation. 36: 587-92. PMID 25754315 DOI: 10.1002/Humu.22781 |
0.365 |
|
| 2014 |
Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, ... ... Diaz GA, et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nature Genetics. 46: 629-34. PMID 24777453 DOI: 10.1038/Ng.2962 |
0.681 |
|
| 2014 |
Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. Clinical Genetics. 86: 155-60. PMID 23927549 DOI: 10.1111/Cge.12247 |
0.345 |
|
| 2010 |
Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. American Journal of Human Genetics. 87: 436-44. PMID 20826270 DOI: 10.1016/J.Ajhg.2010.08.008 |
0.702 |
|
| 2010 |
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Molecular Genetics and Metabolism. 99: 116-23. PMID 19836982 DOI: 10.1016/J.Ymgme.2009.09.008 |
0.317 |
|
| 2008 |
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Molecular Genetics and Metabolism. 94: 397-402. PMID 18562231 DOI: 10.1016/J.Ymgme.2008.05.004 |
0.322 |
|
| 2007 |
Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, Bussel J, Cunningham-Rundles C. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. The Journal of Allergy and Clinical Immunology. 120: 1178-85. PMID 17983875 DOI: 10.1016/J.Jaci.2007.10.001 |
0.302 |
|
| 2006 |
Tian G, Huang MC, Parvari R, Diaz GA, Cowan NJ. Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. Proceedings of the National Academy of Sciences of the United States of America. 103: 13491-6. PMID 16938882 DOI: 10.1073/Pnas.0602798103 |
0.588 |
|
| 2006 |
Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. American Journal of Medical Genetics Part A. 140: 611-617. PMID 16470743 DOI: 10.1002/Ajmg.A.31122 |
0.369 |
|
| 2005 |
Tarzi MD, Jenner M, Hattotuwa K, Faruqi AZ, Diaz GA, Longhurst HJ. Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome. The Journal of Allergy and Clinical Immunology. 116: 1101-5. PMID 16275383 DOI: 10.1016/J.Jaci.2005.08.040 |
0.338 |
|
| 2005 |
Diaz GA, Gulino AV. WHIM syndrome: a defect in CXCR4 signaling. Current Allergy and Asthma Reports. 5: 350-5. PMID 16091205 DOI: 10.1007/S11882-005-0005-0 |
0.359 |
|
| 2005 |
Diaz GA. CXCR4 mutations in WHIM syndrome: a misguided immune system? Immunological Reviews. 203: 235-43. PMID 15661033 DOI: 10.1111/J.0105-2896.2005.00226.X |
0.355 |
|
| 2004 |
Hershkovitz E, Parvari R, Diaz GA, Gorodischer R. Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review. Journal of Pediatric Endocrinology & Metabolism : Jpem. 17: 1583-90. PMID 15645691 DOI: 10.1515/Jpem.2004.17.12.1583 |
0.311 |
|
| 2004 |
Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Developmental Biology. 266: 299-309. PMID 14738878 DOI: 10.1016/J.Ydbio.2003.10.026 |
0.691 |
|
| 2003 |
Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genetics. 34: 70-4. PMID 12692554 DOI: 10.1038/Ng1149 |
0.365 |
|
| 2002 |
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, ... ... Diaz GA, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genetics. 32: 448-52. PMID 12389028 DOI: 10.1038/Ng1012 |
0.375 |
|
| 2001 |
Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Maple syrup urine disease: Identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population American Journal of Human Genetics. 69: 863-868. PMID 11509994 DOI: 10.1086/323677 |
0.363 |
|
| 2001 |
Zhao R, Gao F, Wang Y, Diaz GA, Gelb BD, Goldman ID. Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells Journal of Biological Chemistry. 276: 1114-1118. PMID 11038362 DOI: 10.1074/Jbc.M007919200 |
0.301 |
|
| 2000 |
Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont MEM, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus Nature Genetics. 25: 42-46. PMID 10802654 DOI: 10.1038/75578 |
0.351 |
|
| 2000 |
Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. American Journal of Medical Genetics. 91: 368-76. PMID 10767001 DOI: 10.1002/(Sici)1096-8628(20000424)91:5<368::Aid-Ajmg10>3.0.Co;2-9 |
0.33 |
|
| 1999 |
Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine- responsive megaloblastic anaemia syndrome Nature Genetics. 22: 309-312. PMID 10391223 DOI: 10.1038/10385 |
0.36 |
|
| 1999 |
Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement American Journal of Medical Genetics. 85: 48-52. PMID 10377012 DOI: 10.1002/(Sici)1096-8628(19990702)85:1<48::Aid-Ajmg9>3.0.Co;2-Y |
0.351 |
|
| 1999 |
Satoda M, Pierpont MEM, Diaz GA, Bornemeier RA, Gelb BD. Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21 Circulation. 99: 3036-3042. PMID 10368122 DOI: 10.1161/01.Cir.99.23.3036 |
0.354 |
|
| 1999 |
Banikazemi M, Diaz GA, Vossough P, Jalali M, Desnick RJ, Gelb BD. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23 Molecular Genetics and Metabolism. 66: 193-198. PMID 10066388 DOI: 10.1006/Mgme.1998.2799 |
0.353 |
|
| 1998 |
Diaz GA, Khan KTS, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43 Genomics. 54: 13-18. PMID 9806825 DOI: 10.1006/Geno.1998.5530 |
0.312 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2007 |
Parvari R, Diaz GA, Hershkovitz E. Parathyroid development and the role of tubulin chaperone E. Hormone Research. 67: 12-21. PMID 17008776 DOI: 10.1159/000095944 |
0.3 |
|
| 2017 |
Sanderson SC, Linderman MD, Suckiel SA, Zinberg R, Wasserstein M, Kasarskis A, Diaz GA, Schadt EE. Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project. European Journal of Human Genetics : Ejhg. PMID 28051073 DOI: 10.1038/Ejhg.2016.178 |
0.3 |
|
| 2013 |
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, et al. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (Baltimore, Md.). 57: 2171-9. PMID 22961727 DOI: 10.1002/Hep.26058 |
0.297 |
|
| 2013 |
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, et al. 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. Molecular Genetics and Metabolism. 110: 446-53. PMID 24144944 DOI: 10.1016/J.Ymgme.2013.09.017 |
0.297 |
|
| 2010 |
Mc Guire PJ, Cunningham-Rundles C, Ochs H, Diaz GA. Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome. Clinical Immunology (Orlando, Fla.). 135: 412-21. PMID 20226738 DOI: 10.1016/J.Clim.2010.02.006 |
0.296 |
|
| 2014 |
Oishi K, Diaz GA. Glycerol phenylbutyrate for the chronic management of urea cycle disorders. Expert Review of Endocrinology & Metabolism. 9: 427-434. PMID 30736206 DOI: 10.1586/17446651.2014.945908 |
0.295 |
|
| 2015 |
Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R. ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. Genome Medicine. 7: 77. PMID 26338694 DOI: 10.1186/S13073-015-0207-6 |
0.293 |
|
| 2000 |
Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Sa Miranda C, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: The origins of the ashkenazi jewish N370S anti 84GG acid β-glucosidase mutations American Journal of Human Genetics. 66: 1821-1832. PMID 10777718 DOI: 10.1086/302946 |
0.293 |
|
| 2001 |
Oishi K, Hirai T, Gelb BD, Diaz GA. Slc19a2: Cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene Molecular Genetics and Metabolism. 73: 149-159. PMID 11386850 DOI: 10.1006/Mgme.2001.3184 |
0.293 |
|
| 2013 |
Weisfeld-Adams JD, Bender HA, Miley-Ã…kerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Molecular Genetics and Metabolism. 110: 241-7. PMID 23954310 DOI: 10.1016/J.Ymgme.2013.07.018 |
0.293 |
|
| 2004 |
Ekwa-Ekoka C, Diaz GA, Carlson C, Hasegawa T, Samudrala R, Lim KC, Yabu JM, Levy B, Schnapp LM. Genomic organization and sequence variation of the human integrin subunit α8 gene (ITGA8) Matrix Biology. 23: 487-496. PMID 15579315 DOI: 10.1016/J.Matbio.2004.08.005 |
0.292 |
|
| 2013 |
Monteleone JP, Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Berry SA, Lemons C, Dickinson K, Coakley D, Lee B, Scharschmidt BF. Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders. Journal of Clinical Pharmacology. 53: 699-710. PMID 23775211 DOI: 10.1002/Jcph.92 |
0.289 |
|
| 2010 |
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, et al. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Molecular Genetics and Metabolism. 100: S97-105. PMID 20188616 DOI: 10.1016/J.Ymgme.2010.01.014 |
0.283 |
|
| 1999 |
Diaz GA, Gelb BD, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Sa Miranda C, Amaral O, Mistry PK, Desnick RJ. Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation Pediatric Research. 45: 137A-137A. DOI: 10.1203/00006450-199904020-00814 |
0.28 |
|
| 2015 |
Weisfeld-Adams JD, McCourt EA, Diaz GA, Oliver SC. Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. Molecular Genetics and Metabolism. 114: 537-46. PMID 25742969 DOI: 10.1016/J.Ymgme.2015.01.012 |
0.28 |
|
| 1997 |
He B, Rong M, Lyakhov D, Gartenstein H, Diaz G, Castagna R, McAllister WT, Durbin RK. Rapid mutagenesis and purification of phage RNA polymerases. Protein Expression and Purification. 9: 142-51. PMID 9116496 DOI: 10.1006/Prep.1996.0663 |
0.276 |
|
| 2016 |
Hook D, Diaz GA, Lee B, Bartley J, Longo N, Berquist W, Le Mons C, Rudolph-Angelich I, Porter M, Scharschmidt BF, Mokhtarani M. Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate. Molecular Genetics and Metabolism Reports. 6: 34-40. PMID 27014577 DOI: 10.1016/J.Ymgmr.2015.11.002 |
0.276 |
|
| 2015 |
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, et al. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Molecular Genetics and Metabolism. PMID 26586473 DOI: 10.1016/J.Ymgme.2015.11.005 |
0.275 |
|
| 1999 |
Diaz GA, Khan KT, Sakati N, Sanjad S, Meyer BF, Kambouris M, Gelb BD. Linkage Mapping of the Kenny-Caffey Syndrome and Evidence for Allelism with the Sanjad-Sakati Syndrome Pediatric Research. 45: 137-137. DOI: 10.1203/00006450-199904020-00815 |
0.274 |
|
| 2015 |
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, et al. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 561-8. PMID 25503497 DOI: 10.1038/Gim.2014.148 |
0.273 |
|
| 2009 |
Eash KJ, Greenbaum AM, Gopalan P, Diaz GA, Link DC. CXCR2 Signals Act in Concert with CXCR4 to Regulate Neutrophil Release From the Bone Marrow. Blood. 114: 235-235. DOI: 10.1182/Blood.V114.22.235.235 |
0.272 |
|
| 2012 |
Koenigsberg HW, Yuan P, Diaz GA, Guerreri S, Dorantes C, Mayson S, Zamfirescu C, New AS, Goodman M, Manji HK, Siever LJ. Platelet protein kinase C and brain-derived neurotrophic factor levels in borderline personality disorder patients. Psychiatry Research. 199: 92-7. PMID 22633012 DOI: 10.1016/J.Psychres.2012.04.026 |
0.269 |
|
| 2012 |
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, et al. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Molecular Genetics and Metabolism. 107: 308-14. PMID 22958974 DOI: 10.1016/J.Ymgme.2012.08.006 |
0.269 |
|
| 2018 |
Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders. Molecular Genetics and Metabolism. PMID 30217721 DOI: 10.1016/J.Ymgme.2018.09.001 |
0.266 |
|
| 2015 |
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, et al. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Molecular Genetics and Metabolism. 116: 29-34. PMID 26296711 DOI: 10.1016/J.Ymgme.2015.08.002 |
0.265 |
|
| 2005 |
Diaz GA, Rakita RM, Koelle DM. A case of Ramsay Hunt-like syndrome caused by herpes simplex virus type 2. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. 40: 1545-7. PMID 15844081 DOI: 10.1086/429624 |
0.264 |
|
| 2014 |
McGuire PJ, Tarasenko TN, Wang T, Levy E, Zerfas PM, Moran T, Lee HS, Bequette BJ, Diaz GA. Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. Disease Models & Mechanisms. 7: 205-13. PMID 24271778 DOI: 10.1242/Dmm.013003 |
0.263 |
|
| 2018 |
Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. Journal of Inherited Metabolic Disease. PMID 29305734 DOI: 10.1007/S10545-017-0123-6 |
0.263 |
|
| 2015 |
Mokhtarani M, Diaz GA, Lichter-Konecki U, Berry SA, Bartley J, McCandless SE, Smith W, Harding C, Le Mons C, Coakley DF, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate. Molecular Genetics and Metabolism Reports. 5: 12-14. PMID 28649536 DOI: 10.1016/J.Ymgmr.2015.09.003 |
0.262 |
|
| 2010 |
Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Molecular Genetics and Metabolism. 100: 221-8. PMID 20382058 DOI: 10.1016/J.Ymgme.2010.03.014 |
0.262 |
|
| 2002 |
Coiras MT, Álvarez-Barrientos AM, Díaz G, Arroyo J, Sánchez-Pérez M. Evidence for discoordinate regulation of the HLA-DPB1 gene. Tissue Antigens. 60: 505-514. PMID 12542744 DOI: 10.1034/J.1399-0039.2002.600606.X |
0.261 |
|
| 2002 |
Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Human Molecular Genetics. 11: 2951-60. PMID 12393806 DOI: 10.1093/Hmg/11.23.2951 |
0.261 |
|
| 2009 |
Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S. High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Molecular Genetics and Metabolism. 98: 344-8. PMID 19767224 DOI: 10.1016/J.Ymgme.2009.07.017 |
0.259 |
|
| 2011 |
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 Molecular Genetics and Metabolism. 103: 323-329. PMID 21612962 DOI: 10.1016/J.Ymgme.2011.04.013 |
0.259 |
|
| 2015 |
Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project. European Journal of Human Genetics : Ejhg. PMID 26036856 DOI: 10.1038/Ejhg.2015.118 |
0.258 |
|
| 2014 |
Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Molecular Genetics and Metabolism. 112: 17-24. PMID 24630270 DOI: 10.1016/J.Ymgme.2014.02.007 |
0.256 |
|
| 2003 |
Berretta F, Butler RH, Diaz G, Sanarico N, Arroyo J, Fraziano M, Aichinger G, Wucherpfennig KW, Colizzi V, Saltini C, Amicosante M. Detailed analysis of the effects of Glu/Lys beta69 human leukocyte antigen-DP polymorphism on peptide-binding specificity. Tissue Antigens. 62: 459-71. PMID 14617029 DOI: 10.1046/J.1399-0039.2003.00131.X |
0.255 |
|
| 2016 |
Oishi K, Arnon R, Wasserstein MP, Diaz GA. Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management. Pediatric Transplantation. PMID 27329540 DOI: 10.1111/Petr.12741 |
0.254 |
|
| 2017 |
Scott SA, Obeng AO, Botton MR, Yang Y, Scott ER, Ellis SB, Wallsten R, Kaszemacher T, Zhou X, Chen R, Nicoletti P, Naik H, Kenny EE, Vega A, Waite E, ... Diaz GA, et al. Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai. Pharmacogenomics. PMID 28982267 DOI: 10.2217/Pgs-2017-0137 |
0.253 |
|
| 2017 |
Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Molecular Genetics and Metabolism. PMID 28916119 DOI: 10.1016/J.Ymgme.2017.09.002 |
0.252 |
|
| 2015 |
Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Molecular Genetics and Metabolism. PMID 26049896 DOI: 10.1016/J.Ymgme.2015.05.013 |
0.252 |
|
| 2019 |
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, et al. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Molecular Genetics and Metabolism. PMID 31326288 DOI: 10.1016/J.Ymgme.2019.07.004 |
0.251 |
|
| 2008 |
Misra P, Lebeche D, Ly H, Schwarzkopf M, Diaz G, Hajjar RJ, Schecter AD, Frangioni JV. Quantitation of CXCR4 expression in myocardial infarction using 99mTc-labeled SDF-1alpha. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine. 49: 963-9. PMID 18483105 DOI: 10.2967/Jnumed.107.050054 |
0.25 |
|
| 2016 |
Suckiel SA, Linderman MD, Sanderson SC, Diaz GA, Wasserstein M, Kasarskis A, Schadt EE, Zinberg RE. Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project. Journal of Genetic Counseling. PMID 26898680 DOI: 10.1007/S10897-016-9935-Z |
0.249 |
|
| 2012 |
Puga I, Cols M, Barra CM, He B, Cassis L, Gentile M, Comerma L, Chorny A, Shan M, Xu W, Magri G, Knowles DM, Tam W, Chiu A, Bussel JB, ... ... Diaz GA, et al. B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nature Immunology. 13: 170-80. PMID 22197976 DOI: 10.1038/Ni.2194 |
0.248 |
|
| 2014 |
Nagamani SC, Diaz GA, Rhead WJ, Berry SA, Le Mons C, Lichter-Konecki U, Bartley JA, Feigenbaum A, Schulze A, Longo N, Berquist WE, Gallagher R, Bartholomew DW, Harding CO, Korson MS, et al. Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate Clinical Biochemistry. 47: 153. DOI: 10.1016/J.Clinbiochem.2014.07.084 |
0.247 |
|
| 2011 |
Diaz GA. Released on a WHIM. Blood. 118: 4764-5. PMID 22053172 DOI: 10.1182/Blood-2011-08-375162 |
0.246 |
|
| 2020 |
Thurberg BL, Diaz GA, Lachmann RH, Schiano T, Wasserstein MP, Ji AJ, Zaher A, Peterschmitt MJ. Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment. Molecular Genetics and Metabolism. PMID 32620536 DOI: 10.1016/J.Ymgme.2020.06.010 |
0.246 |
|
| 2009 |
Mc Guire PJ, Parikh A, Diaz GA. Profiling of oxidative stress in patients with inborn errors of metabolism. Molecular Genetics and Metabolism. 98: 173-80. PMID 19604711 DOI: 10.1016/J.Ymgme.2009.06.007 |
0.245 |
|
| 2015 |
Linderman MD, Bashir A, Diaz GA, Kasarskis A, Sanderson SC, Zinberg RE, Mahajan M, Shah H, Suckiel S, Zweig M, Schadt EE. Preparing the next generation of genomicists: a laboratory-style course in medical genomics. Bmc Medical Genomics. 8: 47. PMID 26264128 DOI: 10.1186/S12920-015-0124-Y |
0.245 |
|
| 2012 |
Erblich J, Bovbjerg DH, Diaz GA. Genetic predictors of cue- and stress-induced cigarette craving: an exploratory study. Experimental and Clinical Psychopharmacology. 20: 40-6. PMID 21910549 DOI: 10.1037/A0025369 |
0.245 |
|
| 2004 |
Erblich J, Lerman C, Self DW, Diaz GA, Bovbjerg DH. Stress-induced cigarette craving: effects of the DRD2 TaqI RFLP and SLC6A3 VNTR polymorphisms. The Pharmacogenomics Journal. 4: 102-9. PMID 14732864 DOI: 10.1038/Sj.Tpj.6500227 |
0.244 |
|
| 2013 |
Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. The Journal of Pediatrics. 162: 1228-34, 1234.e1. PMID 23324524 DOI: 10.1016/J.Jpeds.2012.11.084 |
0.242 |
|
| 2005 |
Erblich J, Lerman C, Self DW, Diaz GA, Bovbjerg DH. Effects of dopamine D2 receptor (DRD2) and transporter (SLC6A3) polymorphisms on smoking cue-induced cigarette craving among African-American smokers. Molecular Psychiatry. 10: 407-14. PMID 15381926 DOI: 10.1038/Sj.Mp.4001588 |
0.241 |
|
| 2016 |
Moens L, Frans G, Bosch B, Bossuyt X, Verbinnen B, Poppe W, Boeckx N, Slatter M, Brusselmans C, Diaz G, Tousseyn T, Flipts H, Corveleyn A, Dierickx D, Meyts I. Successful hematopoietic stem cell transplantation for myelofibrosis in an adult with warts-hypogammaglobulinemia-immunodeficiency-myelokathexis syndrome. The Journal of Allergy and Clinical Immunology. PMID 27484033 DOI: 10.1016/J.Jaci.2016.04.057 |
0.24 |
|
| 2016 |
Chapel-Crespo CC, Diaz GA, Oishi K. Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders. Expert Review of Endocrinology & Metabolism. 11: 467-473. PMID 30034506 DOI: 10.1080/17446651.2016.1239526 |
0.24 |
|
| 1993 |
Raskin CA, Diaz GA, McAllister WT. T7 RNA polymerase mutants with altered promoter specificities Proceedings of the National Academy of Sciences of the United States of America. 90: 3147-3151. PMID 8475053 DOI: 10.1073/Pnas.90.8.3147 |
0.24 |
|
| 2022 |
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, ... ... Diaz GA, et al. Detection of mosaic variants using genome sequencing in a large pediatric cohort. American Journal of Medical Genetics. Part A. PMID 36563179 DOI: 10.1002/ajmg.a.63062 |
0.238 |
|
| 2018 |
Linderman MD, Sanderson SC, Bashir A, Diaz GA, Kasarskis A, Zinberg R, Mahajan M, Suckiel SA, Zweig M, Schadt EE. Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years. Bmc Medical Genomics. 11: 5. PMID 29382336 DOI: 10.1186/S12920-018-0319-0 |
0.238 |
|
| 2020 |
Diaz G, Bembi B, Giugliani R, Guffon N, Jones S, Cowan L, Canabarro C, Chen Y, Ortemann-Renon C, Peterschmitt MJ. Preliminary data from first clinical trial of enzyme replacement therapy with olipudase alfa in pediatric patients with chronic visceral and neurovisceral acid sphingomyelinase deficiency Molecular Genetics and Metabolism. 129. DOI: 10.1016/J.Ymgme.2019.11.106 |
0.237 |
|
| 2013 |
Sanderson SC, Linderman MD, Kasarskis A, Bashir A, Diaz GA, Mahajan MC, Shah H, Wasserstein M, Zinberg RE, Zweig M, Schadt EE. Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study. Genome Medicine. 5: 113. PMID 24373383 DOI: 10.1186/Gm518 |
0.237 |
|
| 2015 |
Sanderson SC, Linderman MD, Zinberg R, Bashir A, Kasarskis A, Zweig M, Suckiel S, Shah H, Mahajan M, Diaz GA, Schadt EE. How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25634025 DOI: 10.1038/Gim.2014.203 |
0.236 |
|
| 2013 |
McElrath MJ, Smythe K, Randolph-Habecker J, Melton KR, Goodpaster TA, Hughes SM, Mack M, Sato A, Diaz G, Steinbach G, Novak RM, Curlin ME, Curlin M, Lord JD, Maenza J, et al. Comprehensive assessment of HIV target cells in the distal human gut suggests increasing HIV susceptibility toward the anus. Journal of Acquired Immune Deficiency Syndromes (1999). 63: 263-71. PMID 23392465 DOI: 10.1097/Qai.0B013E3182898392 |
0.236 |
|
| 2006 |
Pyo RT, Sui J, Dhume A, Palomeque J, Blaxall BC, Diaz G, Tunstead J, Logothetis DE, Hajjar RJ, Schecter AD. CXCR4 modulates contractility in adult cardiac myocytes. Journal of Molecular and Cellular Cardiology. 41: 834-44. PMID 17010372 DOI: 10.1016/J.Yjmcc.2006.08.008 |
0.236 |
|
| 1991 |
Fiacco MD, Diaz G, Floris A, Quartu M. Substance P-containing and calcitonin gene-related peptide-containing neurons in the human trigeminal ganglion. Immunohistochemical detection, morphometric characterization, and coexistence of peptides. Annals of the New York Academy of Sciences. 632: 382-384. PMID 1719883 DOI: 10.1111/J.1749-6632.1991.Tb33130.X |
0.232 |
|
| 1993 |
Diaz GA, Raskin CA, McAllister WT. Hierarchy of base-pair preference in the binding domain of the bacteriophage T7 promoter Journal of Molecular Biology. 229: 805-811. PMID 8445647 DOI: 10.1006/Jmbi.1993.1086 |
0.231 |
|
| 2015 |
Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project. European Journal of Human Genetics : Ejhg. PMID 26508568 DOI: 10.1038/Ejhg.2015.179 |
0.231 |
|
| 2009 |
Profitlich L, Kirmse B, Wasserstein MP, Diaz G, Srivastava S. Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report. Cases Journal. 2: 8603. PMID 19830091 DOI: 10.4076/1757-1626-2-8603 |
0.231 |
|
| 1992 |
Raskin CA, Diaz G, Joho K, McAllister WT. Substitution of a single bacteriophage T3 residue in bacteriophage T7 RNA polymerase at position 748 results in a switch in promoter specificity Journal of Molecular Biology. 228: 506-515. PMID 1453460 DOI: 10.1016/0022-2836(92)90838-B |
0.229 |
|
| 1998 |
Riestra S, Rodriguez M, Delgado M, Suarez A, Gonzalez N, Mata MDL, Diaz G, Mino-Fugarolas G, Rodrigo L. Tamoxifen Does Not Improve Survival of Patients With Advanced Hepatocellular Carcinoma Journal of Clinical Gastroenterology. 26: 200-203. PMID 9600369 DOI: 10.1097/00004836-199804000-00010 |
0.225 |
|
| 1992 |
Quartu M, Diaz G, Floris A, Lai ML, Priestley JV, Del Fiacco M. Calcitonin gene-related peptide in the human trigeminal sensory system at developmental and adult life stages: immunohistochemistry, neuronal morphometry and coexistence with substance P. Journal of Chemical Neuroanatomy. 5: 143-57. PMID 1375032 DOI: 10.1016/0891-0618(92)90040-W |
0.225 |
|
| 2017 |
Prasun P, Chapel-Crespo C, Williamson A, Chu P, Oishi K, Diaz G. Skin lesions in a patient with Cobalamin C disease in poor metabolic control. Journal of Inherited Metabolic Disease. PMID 29098535 DOI: 10.1007/S10545-017-0102-Y |
0.223 |
|
| 2008 |
Mc Guire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Molecular Genetics and Metabolism. 93: 22-9. PMID 17964841 DOI: 10.1016/J.Ymgme.2007.08.119 |
0.222 |
|
| 2006 |
Diaz GA, Koelle DM. Human CD4+ CD25 high cells suppress proliferative memory lymphocyte responses to herpes simplex virus type 2. Journal of Virology. 80: 8271-3. PMID 16873284 DOI: 10.1128/Jvi.00656-06 |
0.212 |
|
| 1991 |
Quartu M, Diaz G, Lai ML, Fiacco MD. Immunohistochemical localization of putative peptide neurotransmitters in human trigeminal sensory system Regulatory Peptides. 34: 107. DOI: 10.1016/0167-0115(91)90430-O |
0.205 |
|
| 1996 |
Diaz GA, Rong M, McAllister WT, Durbin RK. The stability of abortively cycling T7 RNA polymerase complexes depends upon template conformation Biochemistry. 35: 10837-10843. PMID 8718875 DOI: 10.1021/Bi960488+ |
0.196 |
|
| 2014 |
Puga I, Cols M, Barra CM, He B, Cassis L, Gentile M, Comerma L, Chorny A, Shan M, Xu W, Magri G, Knowles DM, Tam W, Chiu A, Bussel JB, ... ... Diaz GA, et al. Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen Nature Immunology. 15: 205-205. DOI: 10.1038/Ni0214-205A |
0.194 |
|
| 2022 |
Diaz GA, Bechter M, Cederbaum SD. The Role and Control of Arginine Levels in Arginase 1 Deficiency. Journal of Inherited Metabolic Disease. PMID 36175366 DOI: 10.1002/jimd.12564 |
0.192 |
|
| 2023 |
Bonini KE, Thomas-Wilson A, Marathe PN, Sebastin M, Odgis JA, Di Biase M, Kelly NR, Ramos MA, Insel BJ, Scarimbolo L, Rehman AU, Guha S, Okur V, Abhyankar A, Phadke S, ... ... Diaz GA, et al. Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. Clinical Genetics. PMID 37334874 DOI: 10.1111/cge.14365 |
0.189 |
|
| 2021 |
Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, et al. GenomeDiver: a platform for phenotype-guided medical genomic diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113009 DOI: 10.1038/s41436-021-01219-5 |
0.187 |
|
| 2013 |
Yu C, Wasserstein MP, Diaz GA. Biochemical genetics and inborn errors of metabolism Molecular Genetic Pathology: Second Edition. 2147483647: 561-590. DOI: 10.1007/978-1-4614-4800-6-21 |
0.173 |
|
| 1994 |
Botello AV, Diaz G, Rueda L, Villanueva SF. Organochlorine compounds in oysters and sediments from coastal lagoons of the Gulf of Mexico. Bulletin of Environmental Contamination and Toxicology. 53: 238-45. PMID 8086706 DOI: 10.1007/Bf00192039 |
0.168 |
|
| 2014 |
Oishi K, Diaz GA. Glycerol phenylbutyrate for the chronic management of urea cycle disorders Expert Review of Endocrinology and Metabolism. 9: 427-434. DOI: 10.1586/17446651.2014.945908 |
0.161 |
|
| 2023 |
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, ... ... Diaz GA, et al. Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology. PMID 37255483 DOI: 10.1002/ana.26716 |
0.161 |
|
| 2022 |
Bin Sawad A, Pothukuchy A, Badeaux M, Hodson V, Bubb G, Lindsley K, Uyei J, Diaz GA. Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports. Jimd Reports. 63: 330-340. PMID 35822089 DOI: 10.1002/jmd2.12283 |
0.145 |
|
| 2022 |
Bin Sawad A, Jackimiec J, Bechter M, Trucillo A, Lindsley K, Bhagat A, Uyei J, Diaz GA. Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review. Molecular Genetics and Metabolism. 137: 153-163. PMID 36049366 DOI: 10.1016/j.ymgme.2022.08.005 |
0.143 |
|
| 2021 |
Suckiel SA, Odgis JA, Gallagher KM, Rodriguez JE, Watnick D, Bertier G, Sebastin M, Yelton N, Maria E, Lopez J, Ramos M, Kelly N, Teitelman N, Beren F, Kaszemacher T, ... ... Diaz GA, et al. GUÍA: a digital platform to facilitate result disclosure in genetic counseling. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33531665 DOI: 10.1038/s41436-020-01063-z |
0.141 |
|
| 2023 |
Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Di Biase M, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, ... Diaz GA, et al. The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families. American Journal of Human Genetics. PMID 38006881 DOI: 10.1016/j.ajhg.2023.10.016 |
0.139 |
|
| 2023 |
Abul-Husn NS, Marathe PN, Kelly NR, Bonini KE, Sebastin M, Odgis JA, Abhyankar A, Brown K, Di Biase M, Gallagher KM, Guha S, Ioele N, Okur V, Ramos MA, Rodriguez JE, ... ... Diaz GA, et al. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100880. PMID 37158195 DOI: 10.1016/j.gim.2023.100880 |
0.137 |
|
| 2023 |
Abul-Husn NS, Marathe PN, Kelly NR, Bonini KE, Sebastin M, Odgis JA, Abhyankar A, Brown K, Di Biase M, Gallagher KM, Guha S, Ioele N, Okur V, Ramos MA, Rodriguez JE, ... ... Diaz GA, et al. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Medrxiv : the Preprint Server For Health Sciences. PMID 36993157 DOI: 10.1101/2023.03.18.23286992 |
0.137 |
|
| 2017 |
Welinsky S, Soper E, Diaz G, Lucas AL. Prevalence of Gene Mutations in Patients at Increased Risk of Pancreatic Cancer: Impact of Multi-Gene Panel Testing Gastroenterology. 152: S556. DOI: 10.1016/S0016-5085(17)32016-4 |
0.135 |
|
| 2023 |
Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Biase MD, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, ... Diaz GA, et al. The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families. Medrxiv : the Preprint Server For Health Sciences. PMID 37461450 DOI: 10.1101/2023.07.05.23292193 |
0.131 |
|
| 2023 |
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin. Molecular Genetics and Metabolism. 139: 107605. PMID 37207470 DOI: 10.1016/j.ymgme.2023.107605 |
0.129 |
|
| 1998 |
Díaz G, Catálfamo M, Coiras MT, Alvarez AM, Jaraquemada D, Nombela C, Sánchez-Pérez M, Arroyo J. HLA-DPbeta residue 69 plays a crucial role in allorecognition. Tissue Antigens. 52: 27-36. PMID 9714471 DOI: 10.1111/J.1399-0039.1998.TB03020.X |
0.124 |
|
| 2018 |
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, et al. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Translational Science of Rare Diseases. 3: 157-170. PMID 30613471 DOI: 10.3233/TRD-180031 |
0.124 |
|
| 2024 |
Russo RS, Gasperini S, Bubb G, Neuman L, Sloan LS, Diaz GA, Enns GM. Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial. Eclinicalmedicine. 68: 102405. PMID 38292042 DOI: 10.1016/j.eclinm.2023.102405 |
0.12 |
|
| 1999 |
Banikazemi M, Diaz GA, Desnick RJ, Gelb BD. Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23 Pediatric Research. 45: 136A-136A. DOI: 10.1203/00006450-199904020-00808 |
0.119 |
|
| 2021 |
Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, ... ... Diaz GA, et al. The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children. Trials. 22: 56. PMID 33446240 DOI: 10.1186/s13063-020-04953-4 |
0.119 |
|
| 2003 |
Diaz GA, Hirshhorn K. Molecular Genetics: Developmental and Clinical Implications Fetal and Neonatal Physiology: Third Edition. 1: 16-25. DOI: 10.1016/B978-0-7216-9654-6.50005-9 |
0.117 |
|
| 2020 |
Webb BD, Diaz GA, Prasun P. Mitochondrial translation defects and human disease. Journal of Translational Genetics and Genomics. 4: 71-80. PMID 33426504 DOI: 10.20517/jtgg.2020.11 |
0.114 |
|
| 2022 |
Bin Sawad A, Jackimiec J, Bechter M, Hull M, Yeaw J, Wang Y, Diaz GA. Health care resource utilization in the management of patients with arginase 1 deficiency in the us: a retrospective, observational, claims database study. Journal of Medical Economics. 1-28. PMID 35695271 DOI: 10.1080/13696998.2022.2089517 |
0.112 |
|
| 2021 |
Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, et al. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders. Molecular Genetics and Metabolism. 132: 19-26. PMID 33388234 DOI: 10.1016/j.ymgme.2020.12.002 |
0.111 |
|
| 2023 |
Martinez JM, Zinberg RE, Diaz GA, Naik H. Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic. Telemedicine Journal and E-Health : the Official Journal of the American Telemedicine Association. PMID 37294555 DOI: 10.1089/tmj.2023.0021 |
0.111 |
|
| 2020 |
Diaz GA, Schulze A, McNutt MC, Leão-Teles E, Merritt JL, Enns GM, Batzios S, Bannick A, Zori RT, Sloan LS, Potts SL, Bubb G, Quinn AG. Clinical Effect and Safety Profile of Pegzilarginase In Patients with Arginase-1 Deficiency. Journal of Inherited Metabolic Disease. PMID 33325055 DOI: 10.1002/jimd.12343 |
0.107 |
|
| 2022 |
Diaz GA, Crowe J, Hopkin J. Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice. Orphanet Journal of Rare Diseases. 17: 332. PMID 36056366 DOI: 10.1186/s13023-022-02490-8 |
0.107 |
|
| 2023 |
Sebastin M, Odgis JA, Suckiel SA, Bonini KE, Di Biase M, Brown K, Marathe P, Kelly NR, Ramos MA, Rodriguez JE, Aguiñiga KL, Lopez J, Maria E, Rodriguez MA, Yelton NM, ... ... Diaz GA, et al. The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing. Pilot and Feasibility Studies. 9: 47. PMID 36949526 DOI: 10.1186/s40814-023-01259-5 |
0.104 |
|
| 2016 |
Hook D, Diaz GA, Lee B, Bartley J, Longo N, Berquist W, Le Mons C, Rudolph-Angelich I, Porter M, Scharschmidt BF, Mokhtarani M. Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate Molecular Genetics and Metabolism Reports. 6: 34-40. DOI: 10.1016/j.ymgmr.2015.11.002 |
0.103 |
|
| 2020 |
Holshue ML, DeBolt C, Lindquist S, Lofy KH, Wiesman J, Bruce H, Spitters C, Ericson K, Wilkerson S, Tural A, Diaz G, Cohn A, Fox L, Patel A, Gerber SI, et al. First Case of 2019 Novel Coronavirus in the United States. The New England Journal of Medicine. PMID 32004427 DOI: 10.1056/Nejmoa2001191 |
0.099 |
|
| 2023 |
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, et al. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial. Nature Metabolism. PMID 37770764 DOI: 10.1038/s42255-023-00897-6 |
0.099 |
|
| 2021 |
Rosas IO, Diaz G, Gottlieb RL, Lobo SM, Robinson P, Hunter BD, Cavalcante AW, Overcash JS, Hanania NA, Skarbnik A, Garcia-Diaz J, Gordeev I, Carratalà J, Gordon O, Graham E, et al. Tocilizumab and remdesivir in hospitalized patients with severe COVID-19 pneumonia: a randomized clinical trial. Intensive Care Medicine. PMID 34609549 DOI: 10.1007/s00134-021-06507-x |
0.099 |
|
| 2022 |
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results. Orphanet Journal of Rare Diseases. 17: 437. PMID 36517856 DOI: 10.1186/s13023-022-02587-0 |
0.097 |
|
| 2022 |
Diaz GA, Jones SA, Scarpa M, Mengel KE, Giugliani R, Guffon N, Batsu I, Fraser PA, Li J, Zhang Q, Ortemann-Renon C. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24: 2209. PMID 36205749 DOI: 10.1016/j.gim.2022.08.011 |
0.089 |
|
| 2023 |
Ware LB, Soleymanlou N, McAuley DF, Estrada V, Diaz GA, Lacamera P, Kaste R, Choi W, Gupta A, Welte T. TRPC6 inhibitor (BI 764198) to reduce risk and severity of ARDS due to COVID-19: a phase II randomised controlled trial. Thorax. PMID 37024277 DOI: 10.1136/thorax-2022-219668 |
0.088 |
|
| 2023 |
Lachmann RH, Diaz GA, Wasserstein MP, Armstrong NM, Yarramaneni A, Kim Y, Kumar M. Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults. Orphanet Journal of Rare Diseases. 18: 94. PMID 37098529 DOI: 10.1186/s13023-023-02700-x |
0.088 |
|
| 2021 |
Diaz GA, Jones SA, Scarpa M, Mengel KE, Giugliani R, Guffon N, Batsu I, Fraser PA, Li J, Zhang Q, Ortemann-Renon C. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33875845 DOI: 10.1038/s41436-021-01156-3 |
0.087 |
|
| 2023 |
Diaz GA, Giugliani R, Gufon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results. Orphanet Journal of Rare Diseases. 18: 55. PMID 36918897 DOI: 10.1186/s13023-023-02647-z |
0.086 |
|
| 2021 |
Dai CL, Kornilov SA, Roper RT, Cohen-Cline H, Jade K, Smith B, Heath JR, Diaz G, Goldman JD, Magis AT, Hadlock JJ. Characteristics and Factors Associated with COVID-19 Infection, Hospitalization, and Mortality Across Race and Ethnicity. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. PMID 33608710 DOI: 10.1093/cid/ciab154 |
0.082 |
|
| 2020 |
Goldman JD, Lye DCB, Hui DS, Marks KM, Bruno R, Montejano R, Spinner CD, Galli M, Ahn MY, Nahass RG, Chen YS, SenGupta D, Hyland RH, Osinusi AO, Cao H, ... ... Diaz G, et al. Remdesivir for 5 or 10 Days in Patients with Severe Covid-19. The New England Journal of Medicine. PMID 32459919 DOI: 10.1056/NEJMoa2015301 |
0.08 |
|
| 2021 |
Olender SA, Walunas TL, Martinez E, Perez KK, Castagna A, Wang S, Kurbegov D, Goyal P, Ripamonti D, Balani B, De Rosa FG, De Wit S, Kim SW, Diaz G, Bruno R, et al. Remdesivir Versus Standard-of-Care for Severe Coronavirus Disease 2019 Infection: An Analysis of 28-Day Mortality. Open Forum Infectious Diseases. 8: ofab278. PMID 34282406 DOI: 10.1093/ofid/ofab278 |
0.08 |
|
| 2020 |
Grein J, Ohmagari N, Shin D, Diaz G, Asperges E, Castagna A, Feldt T, Green G, Green ML, Lescure FX, Nicastri E, Oda R, Yo K, Quiros-Roldan E, Studemeister A, et al. Compassionate Use of Remdesivir for Patients with Severe Covid-19. The New England Journal of Medicine. PMID 32275812 DOI: 10.1056/Nejmoa2007016 |
0.079 |
|
| 2021 |
Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, ... ... Diaz GA, et al. Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children. Trials. 22: 146. PMID 33593377 DOI: 10.1186/s13063-021-05057-3 |
0.076 |
|
| 2021 |
Dai CL, Kornilov SA, Roper RT, Cohen-Cline H, Jade K, Smith B, Heath JR, Diaz G, Goldman JD, Magis AT, Hadlock JJ. Characteristics and Factors Associated with COVID-19 Infection, Hospitalization, and Mortality Across Race and Ethnicity. Medrxiv : the Preprint Server For Health Sciences. PMID 33594379 DOI: 10.1101/2020.10.14.20212803 |
0.074 |
|
| 2022 |
Vartanian KB, Holtorf M, Cox EJ, Diaz G, Khurana H, Schlegel S, Raganit C, Ong B, Czartoski T. Patient experience and healthcare utilization for a COVID-19 telemedicine home monitoring program offered in English and Spanish. Plos One. 17: e0270754. PMID 35771749 DOI: 10.1371/journal.pone.0270754 |
0.073 |
|
| 2021 |
Goldman JD, Diaz G, Urba WJ. Use of hydroxychloroquine in combination with azithromycin for patients with COVID-19 is not supported by recent literature. International Journal of Antimicrobial Agents. 57: 106174. PMID 33408020 DOI: 10.1016/j.ijantimicag.2020.106174 |
0.064 |
|
| 1988 |
Wayne LG, Diaz GA. Detection of a novel catalase in extracts of Mycobacterium avium and Mycobacterium intracellulare Infection and Immunity. 56: 936-941. PMID 3346077 DOI: 10.1128/iai.56.4.936-941.1988 |
0.064 |
|
| 2021 |
Diaz GA, Christensen AB, Pusch T, Goulet D, Chang SC, Grunkemeier GL, McKelvey PA, Robicsek A, French T, Parsons GT, Doherty G, Laurenson C, Roper R, Hadlock J, Cover CJ, et al. Remdesivir and Mortality in Patients with COVID-19. Clinical Infectious Diseases : An Official Publication of the Infectious Diseases Society of America. PMID 34409431 DOI: 10.1093/cid/ciab698 |
0.056 |
|
| 1986 |
Wayne LG, Diaz GA. A double staining method for differentiating between two classes of mycobacterial catalase in polyacrylamide electrophoresis gels Analytical Biochemistry. 157: 89-92. PMID 2429588 DOI: 10.1016/0003-2697(86)90200-9 |
0.044 |
|
| 1974 |
Diaz GA, Wayne LG. Isolation and characterization of catalase produced by Mycobacterium tuberculosis Amer.Rev.Resp.Dis.. 110: 312-319. PMID 4137734 DOI: 10.1164/ARRD.1974.110.3.312 |
0.044 |
|
| 1987 |
Wayne LG, Diaz GA. Intrinsic catalase dot blot immunoassay for identification of Mycobacterium tuberculosis, Mycobacterium avium, and Mycobacterium intracellulare Journal of Clinical Microbiology. 25: 1687-1690. PMID 2443531 DOI: 10.1128/jcm.25.9.1687-1690.1987 |
0.04 |
|
| 1967 |
Wayne LG, Doubek JR, Diaz GA. Classification and indentification of mycobacteria. IV. Some important scotochromogens American Review of Respiratory Disease. 96: 88-95. PMID 4961382 DOI: 10.1164/arrd.1967.96.1.88 |
0.038 |
|
| 1974 |
Diaz GA, Wayne LG. Clarification of sonic lysates of Mycobacterium tuberculosis Amer.Rev.Resp.Dis.. 109: 154-155. PMID 4203285 DOI: 10.1164/arrd.1974.109.1.154 |
0.036 |
|
| 2018 |
Cardenas D, Diaz G, Kling J, Bermudez C. Nutrition care in Colombia: Results of the participation for six years in the nutritionday Clinical Nutrition. 37: S41. DOI: 10.1016/j.clnu.2018.06.1194 |
0.031 |
|
| 2016 |
Brandabur JJ, Leggett JE, Wang L, Bartles RL, Baxter L, Diaz GA, Grunkemeier GL, Hove S, Oethinger M. Surveillance of guideline practices for duodenoscope and linear echoendoscope reprocessing in a large health system. Gastrointestinal Endoscopy. PMID 27032883 DOI: 10.1016/j.gie.2016.03.1480 |
0.03 |
|
| 2022 |
Wright BJ, Tideman S, Diaz GA, French T, Parsons GT, Robicsek A. Comparative vaccine effectiveness against severe COVID-19 over time in US hospital administrative data: a case-control study. The Lancet. Respiratory Medicine. PMID 35227415 DOI: 10.1016/S2213-2600(22)00042-X |
0.029 |
|
| 1985 |
Wayne LG, Diaz GA. Identification of mycobacteria by specific precipitation of catalase with absorbed sera Journal of Clinical Microbiology. 21: 721-725. PMID 3998101 DOI: 10.1128/jcm.21.5.721-725.1985 |
0.029 |
|
| 1974 |
Wayne LG, Diaz G. Letter: Clarifying sonic lysates of mycobacteria. The American Review of Respiratory Disease. 110: 205. PMID 4606727 DOI: 10.1164/arrd.1974.110.2.205 |
0.026 |
|
| 1972 |
Bergquist NR, Holubar K, Diaz GA, Beutner EH. The manufacture of protein microspheres by suspension polymerization International Archives of Allergy and Applied Immunology. 43: 791-799. PMID 4576790 DOI: 10.1159/000230895 |
0.025 |
|
| 2020 |
Uyeki TM, Holshue ML, Diaz G. First Case of Covid-19 in the United States. Reply. The New England Journal of Medicine. 382: e53. PMID 32320565 DOI: 10.1056/NEJMc2004794#sa7 |
0.023 |
|
| 1968 |
Wayne LG, Diaz GA, Doubek JR. Acquired isoniazid resistance and catalase activity of myobacteria American Review of Respiratory Disease. 97: 909-913. PMID 4869537 DOI: 10.1164/arrd.1968.97.5.909 |
0.02 |
|
| 2022 |
Ridgway JP, Tideman S, French T, Wright B, Parsons G, Diaz G, Robicsek A. Odds of Hospitalization for COVID-19 After 3 vs 2 Doses of mRNA COVID-19 Vaccine by Time Since Booster Dose. Jama. PMID 36149677 DOI: 10.1001/jama.2022.17811 |
0.016 |
|
| 2021 |
Diaz GA, Parsons GT, Gering SK, Meier AR, Hutchinson IV, Robicsek A. Myocarditis and Pericarditis After Vaccination for COVID-19. Jama. PMID 34347001 DOI: 10.1001/jama.2021.13443 |
0.01 |
|
| 1967 |
Wayne LG, Diaz GA. Autolysis and secondary growth of Mycobacterium tuberculosis in submerged culture Journal of Bacteriology. 93: 1374-1381. PMID 4962059 DOI: 10.1128/jb.93.4.1374-1381.1967 |
0.01 |
|
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