| 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 |
|
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