Eugene Mcdermott Center For Human Growth & Development

1989

Molecular basis of familial hypercholesterolemia

Russell, D. W., Esser, V. & Hobbs, H. H., 1989, In: Arteriosclerosis. 9, 1 SUPPL., p. I8-I13

Research output: Contribution to journal › Review article › peer-review

1993

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

Roa, B. B., Garcia, C. A., Wise, C. A., Anderson, K., Greenberg, F., Patel, P. I. & Lupski, J. R., 1993, In: Progress in clinical and biological research. 384, p. 187-205 19 p.

Research output: Contribution to journal › Review article › peer-review

12 Scopus citations

1994

Comparative analysis of the apo(a) gene, apo(a) glycoprotein, and plasma concentrations of Lp(a) in three ethnic groups: Evidence for no common "null" allele at the apo(a) locus

Gaw, A., Boerwinkle, E., Cohen, J. C. & Hobbs, H. H., Jun 1994, In: Journal of Clinical Investigation. 93, 6, p. 2526-2534 9 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

139 Scopus citations

Molecular genetics of lipoprotein (a): New pieces to the puzzle

Gaw, A. & Hobbs, H., 1994, In: Current opinion in lipidology. 5, 2, p. 149-155 7 p.

Research output: Contribution to journal › Review article › peer-review

48 Scopus citations

1995

Leydig Cell Function after Experimental Testicular Torsion Despite Loss of Spermatogenesis

Baker, L. A. & Turner, T. T., 1995, In: Journal of Andrology. 16, 1, p. 12-17 6 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

58 Scopus citations

1998

Embryonic development of the ureter

Baker, L. A. & Ariel Gomez, R., 1998, In: Seminars in nephrology. 18, 6, p. 569-584 16 p.

Research output: Contribution to journal › Review article › peer-review

22 Scopus citations

1999

Hepatic lipase: New insights from genetic and metabolic studies

Cohen, J. C., Vega, G. L. & Grundy, S. M., 1999, In: Current opinion in lipidology. 10, 3, p. 259-267 9 p.

Research output: Contribution to journal › Review article › peer-review

129 Scopus citations

Lipoprotein(a): Intrigues and insights

Hobbs, H. H. & White, A. L., 1999, In: Current opinion in lipidology. 10, 3, p. 225-236 12 p.

Research output: Contribution to journal › Review article › peer-review

166 Scopus citations

2000

Neurodevelopmental and psychosocial aspects of turner syndrome

Ross, J., Zinn, A. & McCauley, E., 2000, In: Mental Retardation and Developmental Disabilities Research Reviews. 6, 2, p. 135-141 7 p.

Research output: Contribution to journal › Review article › peer-review

116 Scopus citations

2001

Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF)

Zinn, A. R. & Ross, J. L., 2001, In: Seminars in reproductive medicine. 19, 2, p. 141-146 6 p.

Research output: Contribution to journal › Review article › peer-review

49 Scopus citations

The X chromosome and the ovary.

Zinn, A. R., 2001, In: Journal of the Society for Gynecologic Investigation. 8, 1 Suppl Proceedings, p. S34-36

Research output: Contribution to journal › Review article › peer-review

41 Scopus citations

2002

Glucose transporter protein syndromes

De Vivo, D. C., Wang, D., Pascual, J. M. & Ho, Y. Y., 2002, In: International Review of Neurobiology. 51, p. 259-288 30 p.

Research output: Contribution to journal › Review article › peer-review

32 Scopus citations

2003

Apparent intrachromosomal exchange on the human Y chromosome explained by population history

Kittler, R., Erler, A., Brauer, S., Stoneking, M. & Kayser, M., Apr 1 2003, In: European Journal of Human Genetics. 11, 4, p. 304-314 11 p.

Research output: Contribution to journal › Review article › peer-review

46 Scopus citations

Genetic variation among world populations: Inferences from 100 Alu insertion polymorphisms

Watkins, W. S., Rogers, A. R., Ostler, C. T., Wooding, S., Bamshad, M. J., Brassington, A. M. E., Carroll, M. L., Nguyen, S. V., Walker, J. A., Prasad, B. V. R., Reddy, P. G., Das, P. K., Batzer, M. A. & Jorde, L. B., Jul 1 2003, In: Genome Research. 13, 7, p. 1607-1618 12 p.

Research output: Contribution to journal › Review article › peer-review

182 Scopus citations

Molecular mechanisms of autosomal recessive hypercholesterolemia

Cohen, J. C., Kimmel, M., Polanski, A. & Hobbs, H. H., Apr 2003, In: Current opinion in lipidology. 14, 2, p. 121-127 7 p.

Research output: Contribution to journal › Review article › peer-review

51 Scopus citations

Monogenic hypercholesterolemia: New insights in pathogenesis and treatment

Rader, D. J., Cohen, J. & Hobbs, H. H., Jun 2003, In: Journal of Clinical Investigation. 111, 12, p. 1795-1803 9 p.

Research output: Contribution to journal › Review article › peer-review

487 Scopus citations

Signatures of natural selection in the human genome

Bamshad, M. & Wooding, S. P., Feb 1 2003, In: Nature Reviews Genetics. 4, 2, p. 99-111 13 p.

Research output: Contribution to journal › Review article › peer-review

350 Scopus citations

2004

Coronary artery bypass graft surgery in women

Fox, A. A. & Nussmeier, N. A., Jun 2004, In: Journal of cardiothoracic and vascular anesthesia. 18, 3, p. 344-352 9 p.

Research output: Contribution to journal › Review article › peer-review

6 Scopus citations

Deconstructing the relationship between genetics and race

Bamshad, M., Wooding, S., Salisbury, B. A. & Stephens, J. C., Aug 2004, In: Nature Reviews Genetics. 5, 8, p. 598-609 12 p.

Research output: Contribution to journal › Review article › peer-review

266 Scopus citations

Deficiencia del transportador de glucosa tipo 1 (Glut1): Manifestaciones de un síndrome neurológico hereditario

Translated title of the contribution: Type 1 glucose transporter (Glut1) deficiency: Manifestations of a hereditary neurological syndromePascual, J. M., Lecumberri, B., Wang, D., Yang, R., Engelstad, K. & De Vivo, D. C., May 1 2004, In: Revista de Neurologia. 38, 9, p. 860-864 5 p.

Research output: Contribution to journal › Review article › peer-review

9 Scopus citations

Does gender influence the likelihood or types of complications following cardiac surgery?

Fox, A. A. & Nussmeier, N. A., Dec 1 2004, In: Seminars in Cardiothoracic and Vascular Anesthesia. 8, 4, p. 283-295 13 p.

Research output: Contribution to journal › Review article › peer-review

29 Scopus citations

Extrapleural benign solitary fibrous tumor in the shoulder of a 9-year-old girl: Case report and review of the literature

Rakheja, D., Wilson, K. S., Meehan, J. J., Schultz, R. A., Maale, G. E. & Timmons, C. F., Dec 2004, In: Pediatric and Developmental Pathology. 7, 6, p. 653-660 8 p.

Research output: Contribution to journal › Review article › peer-review

24 Scopus citations

GLUT1 deficiency and other glucose transporter diseases

Pascual, J. M., Wang, D., Lecumberri, B., Yang, H., Mao, X., Yang, R. & De Vivo, D. C., May 2004, In: European Journal of Endocrinology. 150, 5, p. 627-633 7 p.

Research output: Contribution to journal › Review article › peer-review

119 Scopus citations

Inherited interstitial lung disease

Garcia, C. K., Sep 2004, In: Clinics in Chest Medicine. 25, 3, p. 421-433 13 p.

Research output: Contribution to journal › Review article › peer-review

21 Scopus citations

Natural selection: Sign, sign, everywhere a sign

Wooding, S., Sep 7 2004, In: Current Biology. 14, 17, p. R700-R701

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

Predictive genomics of adverse events after cardiac surgery

Fox, A. A., Shernan, S. K. & Body, S. C., Dec 2004, In: Seminars in Cardiothoracic and Vascular Anesthesia. 8, 4, p. 297-315 19 p.

Research output: Contribution to journal › Review article › peer-review

13 Scopus citations

Pterygia with deep corneal changes

Mootha, V., Pingree, M. & Jaramillo, J., Aug 2004, In: Cornea. 23, 6, p. 635-638 4 p.

Research output: Contribution to journal › Review article › peer-review

22 Scopus citations

Tissue-specific RNA interference in post-implantation mouse embryos using directional electroporation and whole embryo culture

Calegari, F., Marzesco, A. M., Kittler, R., Buchholz, F. & Huttner, W. B., Mar 2004, In: Differentiation. 72, 2-3, p. 92-102 11 p.

Research output: Contribution to journal › Review article › peer-review

25 Scopus citations

2005

Autophagy in metazoans: Cell survival in the land of plenty

Lum, J. J., DeBerardinis, R. J. & Thompson, C. B., Jun 2005, In: Nature Reviews Molecular Cell Biology. 6, 6, p. 439-448 10 p.

Research output: Contribution to journal › Review article › peer-review

669 Scopus citations

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

DeBerardinis, R. J., Medne, L., Spinner, N. B. & Zackai, E. H., Oct 1 2005, In: American Journal of Medical Genetics. 138 A, 2, p. 155-159 5 p.

Research output: Contribution to journal › Review article › peer-review

7 Scopus citations

Eine Genom-weite RNA-Interferenz-Bibliothek für die funktionelle Charakterisierung aller Gene in kultivierten, menschlichen Zellen

Translated title of the contribution: A genome-wide RNA interference library for the functional characterization of all genes in cuttured human cellsKrauß, E., Heninger, A. K., Kittler, R., Lohmann, A., Poser, I., Wagner, J., Franke, K., Kozak, K., Grabner, H. & Buchholz, F., 2005, In: BioSpektrum. 11, 4, p. 436-441 6 p.

Research output: Contribution to journal › Review article › peer-review

1 Scopus citations

Familial ureteroceles: An evidence for genetic background?

Sözübir, S., Ewalt, D., Strand, W. & Baker, L. A., Jul 1 2005, In: Turkish Journal of Pediatrics. 47, 3, p. 255-260 6 p.

Research output: Contribution to journal › Review article › peer-review

5 Scopus citations

Functional genomic analysis of cell division by endoribonuclease-prepared siRNAs

Kittler, R. & Buchholz, F., Apr 2005, In: Cell Cycle. 4, 4, p. 561-564 4 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

31 Scopus citations

Genetic influences on cardiac surgical outcomes

Fox, A. A., Shernan, S. K., Body, S. C. & Collard, C. D., Jun 2005, In: Journal of cardiothoracic and vascular anesthesia. 19, 3, p. 379-391 13 p.

Research output: Contribution to journal › Review article › peer-review

9 Scopus citations

Miniaturized detection technology in molecular diagnostics

Kricka, L. J., Park, J. Y., Li, S. F. Y. & Fortina, P., Jul 2005, In: Expert Review of Molecular Diagnostics. 5, 4, p. 549-559 11 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

17 Scopus citations

X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review

Anderson, R. C., Zinn, A. R., Kim, J. & Carder, K. R., Mar 2005, In: Pediatric dermatology. 22, 2, p. 122-126 5 p.

Research output: Contribution to journal › Review article › peer-review

29 Scopus citations

2006

Efficient survey sampling of households via Gaussian quadrature

Arndt, C., Kozlitina, J. & Preckel, P. V., May 2006, In: Journal of the Royal Statistical Society. Series C: Applied Statistics. 55, 3, p. 355-364 10 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

11 Scopus citations

Enzymatically prepared RNAi libraries

Buchholz, F., Kittler, R., Slabicki, M. & Theis, M., Sep 2006, In: Nature methods. 3, 9, p. 696-700 5 p.

Research output: Contribution to journal › Review article › peer-review

61 Scopus citations

EXTraordinary bones: Functional and genetic analysis of the EXT gene family

Wise, C. A., Apr 2006, In: Current Genomics. 7, 2, p. 137-148 12 p.

Research output: Contribution to journal › Review article › peer-review

Familial spontaneous pneumothorax

Chiu, H. T. & Garcia, C. K., Jul 1 2006, In: Current Opinion in Pulmonary Medicine. 12, 4, p. 268-272 5 p.

Research output: Contribution to journal › Review article › peer-review

52 Scopus citations

Fenocopias neurológicas

Translated title of the contribution: Neurological phenocopyingPascual, J. M., Dec 2006, In: Revista de Neurologia. 43, 12, p. 753-757 5 p.

Research output: Contribution to journal › Review article › peer-review

Genetic Approaches to Coronary Heart Disease

Cohen, J. C., Nov 7 2006, In: Journal of the American College of Cardiology. 48, 9 SUPPL., p. A10-A14

Research output: Contribution to journal › Review article › peer-review

15 Scopus citations

HER-2 fluorescence in situ hybridization: Results from the Survey Program of the College of American Pathologists

Persons, D. L., Tubbs, R. R., Cooley, L. D., Dewald, G. W., Dowling, P. K., Du, E., Mascarello, J. T., Rao, K. W., Wilson, K. S., Wolff, D. J. & Habegger-Vance, G., Mar 2006, In: Archives of Pathology and Laboratory Medicine. 130, 3, p. 325-331 7 p.

Research output: Contribution to journal › Review article › peer-review

45 Scopus citations

Influence of Statins on Perioperative Outcomes

Hindler, K., Eltzschig, H. K., Fox, A. A., Body, S. C., Shernan, S. K. & Collard, C. D., Apr 2006, In: Journal of cardiothoracic and vascular anesthesia. 20, 2, p. 251-258 8 p.

Research output: Contribution to journal › Review article › peer-review

16 Scopus citations

Phenylthiocarbamide: A 75-year adventure in genetics and natural selection

Wooding, S., Apr 2006, In: Genetics. 172, 4, p. 2015-2023 9 p.

Research output: Contribution to journal › Review article › peer-review

58 Scopus citations

Síndromes hereditarios del transporte de glucosa

Translated title of the contribution: Glucose transport hereditary diseasesPascual, J. M., Nov 11 2006, In: Medicina Clinica. 127, 18, p. 709-714 6 p.

Research output: Contribution to journal › Review article › peer-review