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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J. & Berry, S. A., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

Röschinger, W., Millington, D. S., Gage, D. A., Huang, Z. H., Iwamoto, T., Yano, S., Packman, S., Johnston, K., Berry, S. A. & Sweetman, L., Aug 31 1995, In : Clinica Chimica Acta. 240, 1, p. 35-51 17 p.

Research output: Contribution to journalArticle

23 Scopus citations

A case of Satoyoshi syndrome: A multisystem disorder

Kamat, D., Petry, L. & Berry, S., Oct 2003, In : Clinical Pediatrics. 42, 8, p. 745-748 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

Ensenauer, R., Vockley, J., Willard, J. M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H. G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., Dec 2004, In : American Journal of Human Genetics. 75, 6, p. 1136-1142 7 p.

Research output: Contribution to journalArticle

98 Scopus citations

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

Kerr, D. S., Berry, S. A., Lusk, M. M., Ho, L. & Patel, M. S., Jul 1988, In : Pediatric Research. 24, 1, p. 95-100 6 p.

Research output: Contribution to journalArticle

58 Scopus citations

Agenesis of the penis, scrotal raphe, and anus in one of monoamniotic twins

Berry, S. A., Johnson, D. E. & Thompson, T. R., Apr 1984, In : Teratology. 29, 2, p. 173-176 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

A longitudinal study of urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Sep 1 2014, In : Molecular Genetics and Metabolism. 113, 1, p. 127-130 4 p.

Research output: Contribution to journalArticle

65 Scopus citations

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

Diaz, G. A., Krivitzky, L. S., Mokhtarani, M., Rhead, W., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S. A., Gallagher, R., Lichter-Konecki, U., Bartholomew, D., Harding, C. O., Cederbaum, S., Mccandless, S. E., Smith, W., Vockley, G., Bart, S. A., Korson, M. S., Kronn, D. & 10 others, Zori, R., Merritt, J. L., Nagamani, S. C. S., Mauney, J., Lemons, C., Dickinson, K., Moors, T. L., Coakley, D. F., Scharschmidt, B. F. & Lee, B., Jun 1 2013, In : Hepatology. 57, 6, p. 2171-2179 9 p.

Research output: Contribution to journalArticle

51 Scopus citations

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: Comparison of sodium phenylbutyrate and glycerol phenylbutyrate

Smith, W., Diaz, G. A., Lichter-Konecki, U., Berry, S. A., Harding, C. O., McCandless, S. E., LeMons, C., Mauney, J., Dickinson, K., Coakley, D. F., Moors, T., Mokhtarani, M., Scharschmidt, B. F. & Lee, B., Jun 2013, In : Journal of Pediatrics. 162, 6, p. 1228-1234.e1

Research output: Contribution to journalArticle

31 Scopus citations

A mutation in the Eiα subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

Wexler, I. D., Hemalatha, S. G., Liu, T. C., Berry, S. A., Kerr, D. S. & Patel, M. S., Aug 1992, In : Pediatric Research. 32, 2, p. 169-174 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Q. P., Vockley, C. W., Edick, M. J., Zhai, S., Hiner, S. J., Loman, R. S., Davis-Keppen, L., Zuck, T. A., Cameron, C. A., Berry, S. A. & For The Inborn Errors Of Metabolism Collaborative, Dec 1 2017, In : Journal of Genetic Counseling. 26, 6, p. 1238-1243 6 p.

Research output: Contribution to journalArticle

Open Access

An inducible nuclear factor binds to a growth hormone-regulated gene

Yoon, J. B., Berry, S. A., Seelig, S. & Towle, H. C., Nov 15 1990, In : Journal of Biological Chemistry. 265, 32, p. 19947-19954 8 p.

Research output: Contribution to journalArticle

106 Scopus citations

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S., Gail Summers, C. & Mukherjee, K., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

A novel microdeletion/microduplication syndrome of 19p13.13

Dolan, M. M., Mendelsohn, N. J., Pierpont, M. E. M., Schimmenti, L. A., Berry, S. A. & Hirsch, B. A., Aug 1 2010, In : Genetics in Medicine. 12, 8, p. 503-511 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3

Chong, J. X., Burrage, L. C., Beck, A. E., Marvin, C. T., McMillin, M. J., Shively, K. M., Harrell, T. M., Buckingham, K. J., Bacino, C. A., Jain, M., Alanay, Y., Berry, S. A., Carey, J. C., Gibbs, R. A., Lee, B. H., Krakow, D., Shendure, J., Nickerson, D. A., Abecasis, G. R., Anderson, P. & 44 others, Blue, E. M., Annable, M., Browning, B. L., Chen, C., Chin, J., Cooper, G. M., Davis, C. P., Frazar, C., He, Z., Jain, P., Jarvik, G. P., Jimenez, G., Johanson, E., Jun, G., Kircher, M., Kolar, T., Krauter, S. A., Krumm, N., Leal, S. M., Luksic, D., McGee, S., O'Reilly, P., Paeper, B., Patterson, K., Perez, M., Phillips, S. W., Pijoan, J., Poel, C., Reinier, F., Robertson, P. D., Santos-Cortez, R., Shaffer, T., Shephard, C., Siegel, D. L., Smith, J. D., Staples, J. C., Tabor, H. K., Tackett, M., Underwood, J. G., Wegener, M., Wang, G., Wheeler, M. M., Yi, Q. & Bamshad, M. J., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 841-849 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Binding of a growth hormone-inducible nuclear factor is mediated by tyrosine phosphorylation

Berry, S. A., Bergad, P. L., Whaley, C. D. R. & Towle, H. C., Dec 1994, In : Molecular Endocrinology. 8, 12, p. 1714-1719 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Jul 1 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 657-667 11 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

UCD Consortium, Jul 2 2015, In : Genetics in Medicine. 17, 7, p. 561-568 8 p.

Research output: Contribution to journalArticle

19 Scopus citations
32 Scopus citations

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

Sarafoglou, K., Tridgell, A. H. C., Bentler, K., Redlinger-Grosse, K., Berry, S. A. & Schimmenti, L. A., Aug 1 2010, In : Clinical Genetics. 78, 2, p. 191-194 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G. & Lee, B., Nov 19 1999, In : Human molecular genetics. 8, 12, p. 2311-2316 6 p.

Research output: Contribution to journalArticle

164 Scopus citations

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

Ahrens, M. J., Berry, S. A., Whitley, C. B., Markowitz, D. J., Plante, R. J. & Tuchman, M., Dec 18 1996, In : American Journal of Medical Genetics. 66, 3, p. 311-315 5 p.

Research output: Contribution to journalArticle

14 Scopus citations

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 695-708 14 p.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Cockayne Syndrome: Review of 140 cases

Nance, M. A. & Berry, S. A., Jan 1 1992, In : American Journal of Medical Genetics. 42, 1, p. 68-84 17 p.

Research output: Contribution to journalArticle

556 Scopus citations

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

McCrory, N. M., Edick, M. J., Ahmad, A., Lipinski, S., Scott Schwoerer, J. A., Zhai, S., Justice, K., Cameron, C. A., Berry, S. A., Pena, L. D. M. & Inborn Errors of Metabolism Collaborative, Jan 1 2017, In : Journal of Pediatrics. 180, p. 200-205.e8

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Congenital cardiac malformations in offspring of mothers with phenylketonuria and hyperphenylalaninemia

Pierpont, M. E. M., Sletten, L. J., Smith, C. F., Berry, H., Berry, S. A. & Fisch, R. O., Jan 1 1995, In : International Pediatrics. 10, 3, p. 242-249 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Definition of a high affinity growth hormone DNA response element

Bergad, P. L., Towle, H. C. & Berry, S. A., Apr 25 1999, In : Molecular and Cellular Endocrinology. 150, 1-2, p. 151-159 9 p.

Research output: Contribution to journalArticle

3 Scopus citations
3 Scopus citations

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 219-226 8 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Developmental regulation of the hepatic acute phase response

Schwarzenberg, S. J., Potter, C. J. & Berry, S. A., Nov 5 1991, In : American Journal of Physiology - Cell Physiology. 261, 3 30-3

Research output: Contribution to journalArticle

4 Scopus citations

Differential endocrine regulation of α2U-globulin messenger ribonucleic acid activity: Effect of age at hypophysectomy

Berry, S. A. & Seelig, S., Jan 1 1986, In : Endocrinology. 119, 2, p. 600-605 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Discoordinate hormonal and ontogenetic regulation of four rat serpin genes

Schwarzenberg, S. J., Yoon, J. B., Seelig, S., Potter, C. J. & Berry, S. A., Jan 1 1992, In : American Journal of Physiology - Cell Physiology. 262, 5 31-5, p. C1144-C1148

Research output: Contribution to journalArticle

5 Scopus citations

Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

Reish, O., Berry, S. A., Dewald, G. & King, R. A., Jan 2 1996, In : American Journal of Medical Genetics. 61, 1, p. 21-25 5 p.

Research output: Contribution to journalArticle

26 Scopus citations

Effects of elevated serum insulinlike growth factor-II on growth hormone and insulinlike growth factor-I mRNA and secretion

Wilson, D. M., Perkins, S. N., Thomas, J. A., Seelig, S., Berry, S. A., Hamm, T. E., Hoffman, A. R., Hintz, R. L. & Rosenfeld, R. G., Jan 1989, In : Metabolism. 38, 1, p. 57-62 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

Mokhtarani, M., Diaz, G. A., Rhead, W., Berry, S. A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S. E., Harding, C., Rockey, D. C., Vierling, J. M., Mantry, P., Ghabril, M., Brown, R. S., Dickinson, K. & 8 others, Moors, T., Norris, C., Coakley, D., Milikien, D. A., Nagamani, S. C., LeMons, C., Lee, B. & Scharschmidt, B. F., Dec 2013, In : Molecular Genetics and Metabolism. 110, 4, p. 446-453 8 p.

Research output: Contribution to journalArticle

22 Scopus citations

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill, A. M., Hudock, R. L., Foy, A. M. H., Shanley, R., Semrud-Clikeman, M., Pierpont, M. E., Berry, S. A., Sommer, K., Moertel, C. L. & Pierpont, E. I., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2433-2446 14 p.

Research output: Contribution to journalArticle

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

Schimmenti, L. A., Warman, B., Schleiss, M. R., Daly, K. A., Ross, J. A., McCann, M., Jurek, A. M. & Berry, S. A., Dec 1 2011, In : Genetics in Medicine. 13, 12, p. 1006-1010 5 p.

Research output: Contribution to journalArticle

22 Scopus citations

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Sloan, J. L., Johnston, J. J., Manoli, I., Chandler, R. J., Krause, C., Carrillo-Carrasco, N., Chandrasekaran, S. D., Sysol, J. R., O'Brien, K., Hauser, N. S., Sapp, J. C., Dorward, H. M., Huizing, M., Barshop, B. A., Berry, S. A., James, P. M., Champaigne, N. L., De Lonlay, P., Valayannopoulos, V., Geschwind, M. D. & 4 others, Gavrilov, D. K., Nyhan, W. L., Biesecker, L. G. & Venditti, C. P., Sep 1 2011, In : Nature Genetics. 43, 9, p. 883-886 4 p.

Research output: Contribution to journalArticle

52 Scopus citations

Expanded newborn screening identifies maternal primary carnitine deficiency

Schimmenti, L. A., Crombez, E. A., Schwahn, B. C., Heese, B. A., Wood, T. C., Schroer, R. J., Bentler, K., Cederbaum, S., Sarafoglou, K., McCann, M., Rinaldo, P., Matern, D., di San Filippo, C. A., Pasquali, M., Berry, S. A. & Longo, N., Apr 1 2007, In : Molecular Genetics and Metabolism. 90, 4, p. 441-445 5 p.

Research output: Contribution to journalArticle

69 Scopus citations

Expression of growth hormone-responsive serpin mRNAs in perinatal rat liver

Berry, S. A., Bergad, P. L. & Bundy, M. V., Jan 1 1993, In : American Journal of Physiology - Endocrinology and Metabolism. 264, 6 27-6

Research output: Contribution to journalArticle

9 Scopus citations

Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis.

Hordinsky, M. K., Briden, B. & Berry, S. A., Jan 1 1987, In : Current problems in dermatology. 17, p. 52-60 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, May 1 2020, In : Human mutation. 41, 5, p. 946-960 15 p.

Research output: Contribution to journalArticle

1 Scopus citations

Germ cell localization of a testicular growth hormonereleasing hormone-like factor

Srivastava, C. H., Collard, M. W., Rothrock, J. K., Peredo, M. J., Berry, S. A. & Pescovitz, O. H., Jul 1993, In : Endocrinology. 133, 1, p. 83-89 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Glutamine and hyperammonemic crises in patients with urea cycle disorders

Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R. C., Harding, C. O., McCandless, S. E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D. F., Mokhtarani, M. & 1 others, Scharschmidt, B. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 27-32 6 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Berry, S. A., Lichter-Konecki, U., Diaz, G. A., McCandless, S. E., Rhead, W., Smith, W., LeMons, C., Nagamani, S. C. S., Coakley, D. F., Mokhtarani, M., Scharschmidt, B. F. & Lee, B., May 2014, In : Molecular Genetics and Metabolism. 112, 1, p. 17-24 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Growth failure in cholestatic rats: The effect of malnutrition on insulin-like growth factor I

Descos, B. P., Berry, S. A., Sharp, H. L., Gross, C. R., Weisdorf, S. A. & Pescovitz, O. H., Nov 1989, In : Pediatric Research. 26, 5, p. 410-414 5 p.

Research output: Contribution to journalArticle

11 Scopus citations

Growth hormone action in hypothyroid infant rats

Humbert, J. T., Bergad, P. L., Masha, O., Stolz, A. M., Kaul, S. & Berry, S. A., Feb 1 2000, In : Pediatric Research. 47, 2, p. 250-255 6 p.

Research output: Contribution to journalArticle

1 Scopus citations
107 Scopus citations