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2019

NK cell defects in X-linked pigmentary reticulate disorder

Starokadomskyy, P., Wilton, K. M., Krzewski, K., Lopez, A., Sifuentes-Dominguez, L., Overlee, B., Chen, Q., Ray, A., Gil-Krzewska, A., Peterson, M., Kinch, L. N., Rohena, L., Grunebaum, E., Zinn, A. R., Grishin, N. V., Billadeau, D. D. & Burstein, E., Nov 1 2019, In : JCI Insight. 4, 21, e125688.

Research output: Contribution to journalArticle

Open Access
2018

Sex-chromosome dosage effects on gene expression in humans

Raznahan, A., Parikshak, N. N., Chandran, V., Blumenthal, J. D., Clasen, L. S., Alexander-Bloch, A. F., Zinn, A. R., Wangsa, D., Wise, J., Murphy, D. G. M., Bolton, P. F., Ried, T., Ross, J., Giedd, J. N. & Geschwind, D. H., Jul 10 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 28, p. 7398-7403 6 p.

Research output: Contribution to journalArticle

20 Scopus citations
2017

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder

Starokadomskyy, P., Sifuentes-Dominguez, L., Gemelli, T., Zinn, A. R., Dossi, M. T., Mellado, C., Bertrand, P., Borzutzky, A. & Burstein, E., 2017, (Accepted/In press) In : British Journal of Dermatology.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Benito-Sanz, S., Belinchon-Martínez, A., Aza-Carmona, M., De La Torre, C., Huber, C., González-Casado, I., Ross, J. L., Thomas, N. S., Zinn, A. R., Cormier-Daire, V. & Heath, K. E., Feb 1 2017, In : Journal of Human Genetics. 62, 2, p. 229-234 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

The future of graduate and postdoctoral training in the biosciences

Hitchcock, P., Mathur, A., Bennett, J., Cameron, P., Chow, C., Clifford, P., Duvoisin, R., Feig, A., Finneran, K., Klotz, D. M., McGee, R., O’Riordan, M., Pfund, C., Pickett, C., Schwartz, N., Street, N. E., Watkins, E., Wiest, J. & Engelke, D., Oct 19 2017, In : eLife. 6, e32715.

Research output: Contribution to journalArticle

10 Scopus citations
2016

DNA polymerase-α regulates the activation of type i interferons through cytosolic RNA: DNA synthesis

Starokadomskyy, P., Gemelli, T., Rios, J. J., Xing, C., Wang, R. C., Li, H., Pokatayev, V., Dozmorov, I., Khan, S., Miyata, N., Fraile, G., Raj, P., Xu, Z., Xu, Z., Ma, L., Lin, Z., Wang, H., Yang, Y., Ben-Amitai, D., Orenstein, N. & 11 others, Mussaffi, H., Baselga, E., Tadini, G., Grunebaum, E., Sarajlija, A., Krzewski, K., Wakeland, E. K., Yan, N., De La Morena, M. T., Zinn, A. R. & Burstein, E., May 1 2016, In : Nature Immunology. 17, 5, p. 495-504 10 p.

Research output: Contribution to journalArticle

49 Scopus citations
2015

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features

Ross, J. L., Tartaglia, N., Merry, D. E., Dalva, M. & Zinn, A. R., Feb 1 2015, In : Genes, Brain and Behavior. 14, 2, p. 137-144 8 p.

Research output: Contribution to journalArticle

29 Scopus citations

Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice

Wang, X., Wei, W., Zinn, A. R. & Wan, Y., Apr 1 2015, In : Endocrinology. 156, 4, p. 1408-1415 8 p.

Research output: Contribution to journalArticle

2 Scopus citations
2014

Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.

Heymsfield, S. B., Avena, N. M., Baier, L., Brantley, P., Bray, G. A., Burnett, L. C., Butler, M. G., Driscoll, D. J., Egli, D., Elmquist, J., Forster, J. L., Goldstone, A. P., Gourash, L. M., Greenway, F. L., Han, J. C., Kane, J. G., Leibel, R. L., Loos, R. J. F., Scheimann, A. O., Roth, C. L. & 9 others, Seeley, R. J., Sheffield, V., Tauber, M., Vaisse, C., Wang, L., Waterland, R. A., Wevrick, R., Yanovski, J. A. & Zinn, A. R., Feb 2014, In : Obesity (Silver Spring, Md.). 22 Suppl 1, p. S1-S17

Research output: Contribution to journalArticle

23 Scopus citations

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity

Tolson, K. P., Gemelli, T., Meyer, D., Yazdani, U., Kozlitina, J. & Zinn, A. R., Jul 2014, In : Endocrinology. 155, 7, p. 2436-2444 9 p.

Research output: Contribution to journalArticle

12 Scopus citations
2013

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure

Harrison, S. M., Campbell, I. M., Keays, M., Granberg, C. F., Villanueva, C., Tannin, G., Zinn, A. R., Castrillon, D. H., Shaw, C. A., Stankiewicz, P. & Baker, L. A., Oct 1 2013, In : American Journal of Medical Genetics, Part A. 161, 10, p. 2487-2494 8 p.

Research output: Contribution to journalArticle

18 Scopus citations
2012

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY klinefelter syndrome

Ross, J. L., Roeltgen, D. P., Kushner, H., Zinn, A. R., Reiss, A., Bardsley, M. Z., McCauley, E. & Tartaglia, N., Apr 1 2012, In : Pediatrics. 129, 4, p. 769-778 10 p.

Research output: Contribution to journalArticle

79 Scopus citations

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome

Payne, A. R., Chang, S. W., Koenig, S. N., Zinn, A. R. & Garg, V., Jun 1 2012, In : Pediatric Cardiology. 33, 5, p. 757-763 7 p.

Research output: Contribution to journalArticle

29 Scopus citations
2011

Clinical and molecular evaluation of SHOX/PAR1 duplications in léri-weill dyschondrosteosis (LWD) and idiopathic short stature (ISS)

Benito-Sanz, S., Barroso, E., Heine-Suñer, D., Hisado-Oliva, A., Romanelli, V., Rosell, J., Aragones, A., Caimari, M., Argente, J., Ross, J. L., Zinn, A. R., Gracia, R., Lapunzina, P., Campos-Barros, A. & Heath, K. E., Feb 1 2011, In : Journal of Clinical Endocrinology and Metabolism. 96, 2, p. E404-E412

Research output: Contribution to journalArticle

45 Scopus citations

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

Bhoj, E. J., Ramos, P., Baker, L. A., Cost, N., Nordenskjöld, A., Elder, F. F., Bleyl, S. B., Bowles, N. E., Arrington, C. B., Delhomme, B., Vanhoutteghem, A., Djian, P. & Zinn, A. R., May 2011, In : European Journal of Human Genetics. 19, 5, p. 540-546 7 p.

Research output: Contribution to journalArticle

16 Scopus citations
2010

A serotonin and melanocortin circuit mediates D-fenfluramine anorexia

Xu, Y., Jones, J. E., Lauzon, D. A., Anderson, J. G., Balthasar, N., Heisler, L. K., Zinn, A. R., Lowell, B. B. & Elmquist, J. K., Nov 3 2010, In : Journal of Neuroscience. 30, 44, p. 14630-14634 5 p.

Research output: Contribution to journalArticle

45 Scopus citations

Distribution and neurochemical characterization of protein kinase C-theta and -delta in the rodent hypothalamus

Irani, B. G., Donato, J., Olson, D. P., Lowell, B. B., Sacktor, T. C., Reyland, M. E., Tolson, K. P., Zinn, A. R., Ueta, Y., Sakata, I., Zigman, J. M., Elias, C. F. & Clegg, D. J., Nov 1 2010, In : Neuroscience. 170, 4, p. 1065-1079 15 p.

Research output: Contribution to journalArticle

15 Scopus citations

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression

Tolson, K. P., Gemelli, T., Gautron, L., Elmquist, J. K., Zinn, A. R. & Kublaoui, B. M., Mar 10 2010, In : Journal of Neuroscience. 30, 10, p. 3803-3812 10 p.

Research output: Contribution to journalArticle

89 Scopus citations

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

De Leeuw, N., Bulk, S., Green, A., Jaeckle-Santos, L., Baker, L. A., Zinn, A. R., Kleefstra, T., Van Der Smagt, J. J., Vianne Morgante, A. M., De Vries, B. B. A., Van Bokhoven, H. & De Brouwer, A. P. M., Dec 1 2010, In : American Journal of Medical Genetics, Part A. 152 A, 12, p. 3084-3090 7 p.

Research output: Contribution to journalArticle

25 Scopus citations

Unconventional wisdom about the obesity epidemic

Zinn, A. R., Dec 1 2010, In : American Journal of the Medical Sciences. 340, 6, p. 481-491 11 p.

Research output: Contribution to journalArticle

10 Scopus citations
2009

An extra X or Y chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Ross, J. L., Zeger, M. P. D., Kushner, H., Zinn, A. R. & Roeltgen, D. P., Jan 1 2009, In : Developmental Disabilities Research Reviews. 15, 4, p. 309-317 9 p.

Research output: Contribution to journalArticle

67 Scopus citations

Computing power of quantitative trait locus association mapping for haploid loci

Gordon, D. & Zinn, A. R., Aug 23 2009, In : BMC Bioinformatics. 10, 261.

Research output: Contribution to journalArticle

4 Scopus citations

MODY-like diabetes associated with an apparently balanced translocation: Possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes

Bhoj, E. J., Romeo, S., Baroni, M. G., Bartov, G., Schultz, R. A. & Zinn, A. R., Apr 6 2009, In : Molecular Cytogenetics. 2, 1, 5.

Research output: Contribution to journalArticle

4 Scopus citations
2008

Cognitive and motor development during childhood in boys with Klinefelter syndrome

Ross, J. L., Roeltgen, D. P., Stefanatos, G., Benecke, R., Zeger, M. P. D., Kushner, H., Ramos, P., Elder, F. F. & Zinn, A. R., Mar 15 2008, In : American Journal of Medical Genetics, Part A. 146, 6, p. 708-719 12 p.

Research output: Contribution to journalArticle

110 Scopus citations

Cryptic chromosomal abnormalities identified in children with congenital heart disease

Richards, A. A., Santos, L. J., Nichols, H. A., Crider, B. P., Elder, F. F., Hauser, N. S., Zinn, A. R. & Garg, V., Oct 1 2008, In : Pediatric Research. 64, 4, p. 358-363 6 p.

Research output: Contribution to journalArticle

70 Scopus citations

Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome

Zeger, M. P. D., Zinn, A. R., Lahlou, N., Ramos, P., Kowal, K., Samango-Sprouse, C. & Ross, J. L., May 1 2008, In : Journal of Pediatrics. 152, 5, p. 716-722 7 p.

Research output: Contribution to journalArticle

59 Scopus citations

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome

Zinn, A. R., Kushner, H. & Ross, J. L., Jun 5 2008, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 147, 4, p. 507-509 3 p.

Research output: Contribution to journalArticle

9 Scopus citations

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice

Kublaoui, B. M., Gemelli, T., Tolson, K. P., Wang, Y. & Zinn, A. R., Jul 1 2008, In : Molecular Endocrinology. 22, 7, p. 1723-1734 12 p.

Research output: Contribution to journalArticle

155 Scopus citations

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Jaeckle Santos, L. J., Xing, C., Barnes, R. B., Ades, L. C., Megarbane, A., Vidal, C., Xuereb, A., Tarpey, P. S., Smith, R., Khazab, M., Shoubridge, C., Partington, M., Futreal, A., Stratton, M. R., Gecz, J. & Zinn, A. R., Jun 1 2008, In : Human genetics. 123, 5, p. 469-476 8 p.

Research output: Contribution to journalArticle

13 Scopus citations

Sequence variation at the human FOXO3 locus: A study of premature ovarian failure and primary amenorrhea

Gallardo, T. D., John, G. B., Bradshaw, K., Welt, C., Reijo-Pera, R., Vogt, P. H., Touraine, P., Bione, S., Toniolo, D., Nelson, L. M., Zinn, A. R. & Castrillon, D. H., Jan 2008, In : Human Reproduction. 23, 1, p. 216-221 6 p.

Research output: Contribution to journalArticle

31 Scopus citations
2007

A turner syndrome neurocognitive phenotype maps to Xp22.3

Zinn, A. R., Roeltgen, D., Stefanatos, G., Ramos, P., Elder, F. F., Kushner, H., Kowal, K. & Ross, J. L., May 21 2007, In : Behavioral and Brain Functions. 3, 24.

Research output: Contribution to journalArticle

54 Scopus citations

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Campos-Barros, Á., Benito-Sanz, S., Ross, J. L., Zinn, A. R. & Heath, K. E., May 1 2007, In : American Journal of Medical Genetics, Part A. 143, 9, p. 933-938 6 p.

Research output: Contribution to journalArticle

18 Scopus citations

Dynamic regulation of p53 subnuclear localization and senescence by MORC3

Takahashi, K., Yoshida, N., Murakami, N., Kawata, K., Ishizaki, H., Tanaka-Okamoto, M., Miyoshi, J., Zinn, A. R., Shime, H. & Inoue, N., May 1 2007, In : Molecular biology of the cell. 18, 5, p. 1701-1709 9 p.

Research output: Contribution to journalArticle

55 Scopus citations

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

Jenkins, D., Bitner-Glindzicz, M., Thomasson, L., Malcolm, S., Warne, S. A., Feather, S. A., Flanagan, S. E., Ellard, S., Bingham, C., Santos, L., Henkemeyer, M., Zinn, A., Baker, L. A., Wilcox, D. T. & Woolf, A. S., Feb 1 2007, In : Journal of Pediatric Urology. 3, 1, p. 2-9 8 p.

Research output: Contribution to journalArticle

24 Scopus citations

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

Prieto, J. C., Garcia, N. M., Elder, F. F., Zinn, A. R. & Baker, L. A., Nov 1 2007, In : Journal of Pediatric Surgery. 42, 11, p. 1928-1932 5 p.

Research output: Contribution to journalArticle

19 Scopus citations

The physical phenotype of girls and women with Turner syndrome is not X-imprinted

Bondy, C. A., Matura, L. A., Wooten, N., Troendle, J., Zinn, A. R. & Bakalov, V. K., May 1 2007, In : Human genetics. 121, 3-4, p. 469-474 6 p.

Research output: Contribution to journalArticle

24 Scopus citations
2006

Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13

Garcia, N. M., Allgood, J., Santos, L. J., Lonergan, D., Batanian, J. R., Dravis, C., Henkemeyer, M., Bartsch, O., Schultz, R. A., Zinn, A. R. & Baker, L. A., Aug 1 2006, In : Journal of Pediatric Urology. 2, 4, p. 233-242 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects

Russell, H. F., Wallis, D., Mazzocco, M. M. M., Moshang, T., Zackai, E., Zinn, A. R., Ross, J. L. & Muenke, M., Oct 1 2006, In : Journal of pediatric psychology. 31, 9, p. 945-955 11 p.

Research output: Contribution to journalArticle

73 Scopus citations

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons

Kublaoui, B. M., Holder, J. L., Gemelli, T. & Zinn, A. R., Oct 9 2006, In : Molecular Endocrinology. 20, 10, p. 2483-2492 10 p.

Research output: Contribution to journalArticle

84 Scopus citations

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake

Kublaoui, B. M., Holder, J. L., Tolson, K. P., Gemelli, T. & Zinn, A. R., Sep 22 2006, In : Endocrinology. 147, 10, p. 4542-4549 8 p.

Research output: Contribution to journalArticle

60 Scopus citations
2005

Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome

Zinn, A. R., Ramos, P., Elder, F. F., Kowal, K., Samango-Sprouse, C. & Ross, J. L., Sep 1 2005, In : Journal of Clinical Endocrinology and Metabolism. 90, 9, p. 5041-5046 6 p.

Research output: Contribution to journalArticle

90 Scopus citations

Distinct roles for the mammalian A-type cyclins during oogenesis

Persson, J. L., Zhang, Q., Wang, X. Y., Ravnik, S. E., Muhlrad, S. & Wolgemuth, D. J., Oct 1 2005, In : Reproduction. 130, 4, p. 411-422 12 p.

Research output: Contribution to journalArticle

19 Scopus citations

Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome

Ross, J. L., Samango-Sprouse, C., Lahlou, N., Kowal, K., Elder, F. F. & Zinn, A., Sep 1 2005, In : Hormone Research. 64, 1, p. 39-45 7 p.

Research output: Contribution to journalArticle

95 Scopus citations

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: Contrasting children with Leri-Weill dyschondrosteosis and turner syndrome

Ross, J. L., Kowal, K., Quigley, C. A., Blum, W. F., Cutler, G. B., Crowe, B., Hovanes, K., Elder, F. F. & Zinn, A. R., Oct 1 2005, In : Journal of Pediatrics. 147, 4, p. 499-507 9 p.

Research output: Contribution to journalArticle

58 Scopus citations
2004

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice

Holder, J. L., Zhang, L., Kublaoui, B. M., DiLeone, R. J., Oz, O. K., Bair, C. H., Lee, Y. H. & Zinn, A. R., Jul 1 2004, In : American Journal of Physiology - Endocrinology and Metabolism. 287, 1 50-1, p. E105-E113

Research output: Contribution to journalArticle

62 Scopus citations

The effect of genetic differences and ovarian failure: Intact cognitive function in adult women with premature ovarian failure versus turner syndrome

Ross, J. L., Stefanatos, G. A., Kushner, H., Bondy, C., Nelson, L., Zinn, A. & Roeltgen, D., Apr 1 2004, In : Journal of Clinical Endocrinology and Metabolism. 89, 4, p. 1817-1822 6 p.

Research output: Contribution to journalArticle

45 Scopus citations
2003

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

Ross, J. L., Bellus, G., Scott, C. I., Abboudi, J., Grigelioniene, G. & Zinn, A. R., Jan 1 2003, In : American Journal of Medical Genetics. 116, 1, p. 61-65 5 p.

Research output: Contribution to journalArticle

12 Scopus citations
2002

Author‘ Response: SHOX-A Geneticist‘s View

Ross, J. & Zinn, A., 2002, In : Journal of Clinical Endocrinology and Metabolism. 87, 4, p. 1912 1 p.

Research output: Contribution to journalArticle