Eugene Mcdermott Center For Human Growth & Development

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Letter
2019

A NIK–SIX signalling axis controls inflammation by targeted silencing of non-canonical NF-κB

Liu, Z., Mar, K. B., Hanners, N. W., Perelman, S. S., Kanchwala, M., Xing, C., Schoggins, J. W. & Alto, N. M., Jan 1 2019, In : Nature.

Research output: Contribution to journalLetter

3 Scopus citations

Author Reply to “Letter to the Editor on: Bladder Agenesis and Associated Pelvic Arterial Anomaly in 2 Female Pediatric Patients” (#URL-D-19-00427)

Lowrey, T., Josephs, S. C. & Baker, L. A., Jul 1 2019, In : Urology. 129, p. 238-239 2 p.

Research output: Contribution to journalLetter

Homozygous rare Parn missense mutation in familial pulmonary fibrosis

Zhang, D., Zhou, Z., Abu-Hijleh, M. A., Batra, K., Xing, C. & Garcia, C. K., Mar 15 2019, In : American Journal of Respiratory and Critical Care Medicine. 199, 6, p. 797-799 3 p.

Research output: Contribution to journalLetter

2 Scopus citations
2018

A CRISPR screen identifies IFI6 as an ER-resident interferon effector that blocks flavivirus replication

Richardson, R. B., Ohlson, M. B., Eitson, J. L., Kumar, A., McDougal, M. B., Boys, I. N., Mar, K. B., De La Cruz-Rivera, P. C., Douglas, C., Konopka, G., Xing, C. & Schoggins, J. W., Nov 1 2018, In : Nature Microbiology. 3, 11, p. 1214-1223 10 p.

Research output: Contribution to journalLetter

21 Scopus citations

HSD17B13 and chronic liver disease in blacks and Hispanics

Kozlitina, J., Stender, S., Hobbs, H. H. & Cohen, J. C., Nov 8 2018, In : New England Journal of Medicine. 379, 19, p. 1876-1877 2 p.

Research output: Contribution to journalLetter

9 Scopus citations

In response

Kiryluk, K., Groopman, E., Rasouly, H., Garcia, C. K. & Gharavi, A. G., Jul 17 2018, In : Annals of Internal Medicine. 169, 2, p. 132-133 2 p.

Research output: Contribution to journalLetter

2017

Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia

Zahid, A., Xing, C., Panach, K., McPhaul, M. J., Wilson, J. D. & Warne, G. L., Dec 1 2017, In : Journal of Paediatrics and Child Health. 53, 12, p. 1246-1247 2 p.

Research output: Contribution to journalLetter

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations

Newton, C. A., Batra, K., Torrealba, J., Meyer, K., Raghu, G. & Garcia, C. K., May 1 2017, In : European Respiratory Journal. 49, 5, 1700696.

Research output: Contribution to journalLetter

4 Scopus citations
2016

High concentration capture probes enhance massively parallel sequencing assays

Farooqi, M. S., Mitui, M., Londin, E. R. & Park, J. Y., Jul 1 2016, In : Clinical Chemistry. 62, 7, p. 1032-1034 3 p.

Research output: Contribution to journalLetter

1 Scopus citations
2015

Extreme clinical chemistry

Park, J. Y. & Kricka, L. J., Aug 5 2015, In : Clinica Chimica Acta. 448, p. 48-49 2 p.

Research output: Contribution to journalLetter

2014
12 Scopus citations

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

Wang, J., Gotway, G., Pascual, J. M. & Park, J. Y., May 2014, In : JAMA Neurology. 71, 5, p. 650-651 2 p.

Research output: Contribution to journalLetter

31 Scopus citations

Homozygous hemoglobin S with concomitant hemoglobin G-Philadelphia: A diagnostic challenge

Racsa, L., Rogers, Z. R., Mitui, M., Park, J. Y., Timmons, C. & Luu, H., Oct 2014, In : Pediatric Blood and Cancer. 61, 10, p. 1899-1900 2 p.

Research output: Contribution to journalLetter

2012

Genetic variant in PNPLA3 is associated with nonalcoholic fatty liver disease in China

Li, Y., Xing, C., Cohen, J. C. & Hobbs, H. H., Jan 1 2012, In : Hepatology. 55, 1, p. 327-328 2 p.

Research output: Contribution to journalLetter

24 Scopus citations

Measuring linkage disequilibrium by the partial correlation coefficient

Lin, C. Y., Xing, G. & Xing, C., Dec 1 2012, In : Heredity. 109, 6, p. 401-402 2 p.

Research output: Contribution to journalLetter

3 Scopus citations
2011

In response

Park, J. Y., Cornish, T. C., Lam-Himlin, D., Shi, C. & Montgomery, E., Aug 1 2011, In : American Journal of Surgical Pathology. 35, 8, p. 1244-1245 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

Reply to A. Italiano

Peck, A. R., Witkiewicz, A. K., Liu, C., Stringer, G. A., Klimowicz, A. C., Pequignot, E. C., Freydin, B. C., Tran, T. H., Yang, N., Rosenberg, A. L., Hooke, J. A., Kovatich, A. J., Nevalainen, M. T., Shriver, C. D., Hyslop, T., Sauter, G., Rimm, D. L., Magliocco, A. M. & Rui, H., Dec 10 2011, In : Journal of Clinical Oncology. 29, 35, p. 4718-4719 2 p.

Research output: Contribution to journalLetter

2010

Adjusting for covariates in logistic regression models

Xing, G. & Xing, C., Nov 1 2010, In : Genetic Epidemiology. 34, 7, p. 769-771 3 p.

Research output: Contribution to journalLetter

14 Scopus citations
2009

From the authors

Garcia, C. K., Xing, C., Rosenblatt, R., Cronkhite, J. & Raghu, G., May 1 2009, In : American journal of respiratory and critical care medicine. 179, 9, p. 852-853 2 p.

Research output: Contribution to journalLetter

2008

Childhood renal lymphangiectasia

Sanchez, F., Prieto, J. C., Koral, K. & Baker, L. A., Jan 1 2008, In : International Braz J Urol. 34, 6, p. 772-773 2 p.

Research output: Contribution to journalLetter

Open Access
5 Scopus citations

Deficiencia del transportador de glucosa tipo I: Una enfermedad neurometabólica tratable

Translated title of the contribution: Glucose transporter type 1 deficiency: A treatable neuro-metabolicdisorderGómez Lado, C., Couce Pico, M. L., Sánchez-Salmón, A. & Pascual, J. M., Sep 1 2008, In : Anales de Pediatria. 69, 3, p. 285-286 2 p.

Research output: Contribution to journalLetter

2007

Nanotechnology and immunoassay [8]

Stolper, S. I., Mark, S. S., Park, J. Y. & Kricka, L. J., Oct 1 2007, In : Clinical chemistry. 53, 10, 1 p.

Research output: Contribution to journalLetter

4 Scopus citations
2006

A second recombination hotspot associated with SHOX deletions [2]

Zinn, A. R., Ramos, P. & Ross, J. L., Mar 1 2006, In : American Journal of Human Genetics. 78, 3, p. 523-525 3 p.

Research output: Contribution to journalLetter

8 Scopus citations

Maternal X chromosome, visceral adiposity, and lipid profile [1]

Van, P. L., Bakalov, V. K., Zinn, A. R. & Bondy, C. A., Mar 22 2006, In : Journal of the American Medical Association. 295, 12, p. 1373-1374 2 p.

Research output: Contribution to journalLetter

36 Scopus citations

Nanotechnologic nutraceuticals: Nurturing or nefarious? [3]

Park, J. Y., Li, S. F. Y. & Kricka, L. J., Feb 1 2006, In : Clinical chemistry. 52, 2, p. 331-332 2 p.

Research output: Contribution to journalLetter

8 Scopus citations
19 Scopus citations

Reply to Benito-Sanz et al.

Zinn, A. R., Ramos, P. & Ross, J. L., Aug 2006, In : American Journal of Human Genetics. 79, 2, 1 p.

Research output: Contribution to journalLetter

2005

Letter to the Editor [1] (multiple letters)

Cramer, S. F., Ince, T. A., Witkiewicz, A. K. & Crum, C. P., Aug 2005, In : Human Pathology. 36, 8, p. 932-933 2 p.

Research output: Contribution to journalLetter

Miscues on the "lack of MEF2A mutations" in coronary artery disease (multiple letters)

Wang, Q., Rao, S., Topol, E. J., Weng, L., Cohen, J., McPherson, R., Pennacchio, L. A., Altshuler, D. & Hirschhorn, J. N., Jun 1 2005, In : Journal of Clinical Investigation. 115, 6, p. 1399-1401 3 p.

Research output: Contribution to journalLetter

15 Scopus citations

Predictive value of slitlamp examinations in screening donor corneas for prior refractive surgery [2] (multiple letters)

Vavra, D. E., Enzenauer, R. W., Mootha, V. & Qualls, C., May 2005, In : Archives of Ophthalmology. 123, 5, p. 707-709 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

Processing controls in blood collection tubes reveals interference [3]

Kricka, L. J., Park, J. Y., Senior, M. B. & Fontanilla, R., Dec 1 2005, In : Clinical chemistry. 51, 12, p. 2422-2423 2 p.

Research output: Contribution to journalLetter

11 Scopus citations

The practicality and need for genetic testing for malignant hyperthermia [2] (multiple letters)

Brandom, B. W., Muldoon, S. M., Collard, C. D., Shernan, S. K., Fox, A. A., Giesecke, M. N. & Body, S. C., Nov 2005, In : Anesthesiology. 103, 5, p. 1100-1101 2 p.

Research output: Contribution to journalLetter

1 Scopus citations
2002

ARH mutations and hypercholesterolaemia in Sardinia [7] (multiple letters)

Zlotogora, J., Cohen, J. & Hobbs, H. H., Sep 28 2002, In : Lancet. 360, 9338, 1 p.

Research output: Contribution to journalLetter

1999

A correction to TDT statistics for mapping quantitative trait loci

Wang, J. & Cohen, J., Dec 1 1999, In : Annals of Human Genetics. 63, 5, 1 p.

Research output: Contribution to journalLetter

Re: Vesicoureteral reflux in infants with prenatal hydronephrosis confirmed at birth: Racial differences [2]

Horowitz, M., Gershbein, A. B., Glassberg, K. I., Baker, L. A. & Docimo, S. G., Jan 1 1999, In : Journal of Urology. 162, 5, p. 1705-1706 2 p.

Research output: Contribution to journalLetter

5 Scopus citations
1994

Chromosomal instability in hereditary tyrosinemia type i

Wilson, K. S., Timmons, C. F., Hilton, D. S., Weinbug, A. & Tonk, V., Jan 1 1994, In : Fetal and Pediatric Pathology. 14, 6, p. 1055-1057 3 p.

Research output: Contribution to journalLetter

6 Scopus citations

CMTIA duplication analysis in the diagnostic evaluation of patients with peripheral neuropathy

Boylan, K. B., Wise, C. A., Garcia, C. A., Patel, P. I. & Lupski, J. R., Jan 1 1994, In : American Journal of Human Genetics. 54, 4, p. 727-729 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

Glandular inclusions in inguinal hernia sacs: A clinicopatholoical study of six cases

Mierau, G. W. & Wilson, K. S., Jan 1 1994, In : Fetal and Pediatric Pathology. 14, 6, p. 1051-1054 4 p.

Research output: Contribution to journalLetter

1993

Plasma lipoprotein(a) concentrations are not elevated by cardiopulmonary bypass

Moliterno, D. J., Jessen, M. E., Schueler, K. & Cohen, J. C., Dec 1993, In : Atherosclerosis. 104, 1-2, p. 223-225 3 p.

Research output: Contribution to journalLetter

2 Scopus citations
1986

Prevention of hypoglycemia during prolonged exercise by ingestion of carbohydrate-rich solutions.

Noakes, T. D., Schwartz, P. A. & Cohen, J. C., Apr 12 1986, In : South African medical journal. Suid-Afrikaanse tydskrif vir geneeskunde. 69, 8, p. 475-476 2 p.

Research output: Contribution to journalLetter

1 Scopus citations