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1

Induction of heat-shock protein 72 in rat skeletal muscle does not increase tolerance to ischemia-reperfusion injury

Sean Lille, Ching-Yuan Su, Thomas Schoeller, Hans Suchy, Sharon Lyons, Robert C. Russell, Michael Neumeister, Chen-Ching Lai

Journal:

Year:

1999

Language:

english

File:

PDF, 536 KB

english, 1999

2

Are pathogenic mitochondrial DNA missense mutations predictable?

Renkui Bai⁎, Prachi Kothiyal, Sharon Suchy, John Compton, Sherri Bale

Journal:

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

3

Comprehensive analysis of entire mitochondrial genome by long-range PCR and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 216 cases

Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Barbara Boggs, Craig Chinault, Yuriy Shevchenko, Nizar Smaoui, Gabriele Richard

Journal:

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

4

PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases

Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Federica Gibellini, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Barbara Boggs, Craig Chinault, Yuriy Shevchenko, Nizar Smao

Journal:

Year:

2012

Language:

english

File:

PDF, 81 KB

english, 2012

5

PCR-based targeted enrichment and next-generation sequencing of 101 nuclear genes for the diagnosis of mitochondrial disorders

Renkui Bai, Jaimie Higgs, Sharon Suchy, Federica Gibellini, Melanie Knight, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Craig Chinault, Rhonda Brandon, Nizar Smaoui, Gabriele Richard, Sherri Bal

Journal:

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

6

First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing?

Bai, Renkui, Haverfield, Eden, Higgs, Jaimie, Suchy, Sharon F., Arjona, Dolores, Retterer, Kyle, Smaoui, Nizar, Richard, Gabriele, Bale, Sherri, Kendall, Fran D., Parikh, Sumit, Gropman, Andrea L., Ha

Journal:

Year:

2013

Language:

english

File:

PDF, 52 KB

english, 2013

7

Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases

Bai, Renkui, Higgs, Jaimie, Suchy, Sharon, Arjona, Dolores, Smaoui, Nizar, Richard, Gabriele, Compton, John, Bale, Sherri, Parikh, Sumit, Tarnopolsky, Mark, Chung, Wendy K.

Journal:

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

8

Mitochondrial genome sequencing: A valuable addition to whole exome sequencing for the molecular diagnosis of mitochondrial disorders

Balog, Amanda, Higgs, Jaimie, Retterer, Kyle, Arjona, Dolores, Warren-Mora, Nicole, Parsons, Kelly, Ye, Yizhou, Suchy, Sharon, Parikh, Sumit, Niyazov, Dmitriy, Tarnopolsky, Mark, Chung, Wendy, Bale, S

Journal:

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

9

Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases

Bai, Renkui, Balog, Amanda, Higgs, Jaimie, Retterer, Kyle, Arjona, Dolores, Juusola, Jane, Vitazka, Patrik, Suchy, Sharon, Enns, Gregory M., Haas, Richard, Goldstein, Amy, Tarnopolsky, Mark, Parikh, S

Journal:

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

10

First report of prenatal biochemical diagnosis of Lowe syndrome

Sharon F. Suchy, Ti Lin, Juli A. Horwitz, William E. O'Brien, Robert L. Nussbaum

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 150 KB

english, 1998

11

Unusual renal features of Lowe syndrome in a mildly affected boy

Andrea Gropman, Sondra Levin, Lynne Yao, Ti Lin, Sharon Suchy, Sharda Sabnis, Donald Hadley, Robert Nussbaum

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 603 KB

english, 2000

12

False-positive amniotic fluid acetylcholinesterase analysis in the third trimester

Sharon F. Suchy, Maria T. Yeager

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 483 KB

english, 1993

13

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Wenk, Markus R, Lucast, Louise, Di Paolo, Gilbert, Romanelli, Anthony J, Suchy, Sharon F, Nussbaum, Robert L, Cline, Gary W, Shulman, Gerald I, McMurray, Walter, De Camilli, Pietro

Journal:

Nature Biotechnology

Year:

2003

Language:

english

File:

PDF, 659 KB

english, 2003

14

Volume Analysis of Preadipocyte Injection for Vocal Cord Medialization

Frank R. Glatz, James Kalkanis, Michael Neumeister, Hans Suchy, Sharon Lyons, Arian Mowlawi

Journal:

The Laryngoscope

Year:

2003

Language:

english

File:

PDF, 752 KB

english, 2003

15

Mutations Are Not Uniformly Distributed throughout theOCRL1Gene in Lowe Syndrome Patients

Ti Lin, Bonnie M. Orrison, Sharon F. Suchy, Richard Alan Lewis, Robert L. Nussbaum

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 77 KB

english, 1998

16

A monoclonal antibody, WCC4, recognizes a developmentally regulated ganglioside containing α-galactose and α-fucose present in the rat nervous system

Sharon F. Suchy, Miyuki Yamamoto, Linda Barbero, Gerald A. Schwarting

Journal:

Year:

1988

Language:

english

File:

PDF, 1.68 MB

english, 1988

17

The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

Sharon F. Suchy, Robert L. Nussbaum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 568 KB

english, 2002

18

Dent Disease with Mutations in OCRL1

Richard R. Hoopes Jr., Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Sch

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.21 MB

english, 2005

19

Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

Ti Lin, Bonnie M. Orrison, Ann-Marie Leahey, Sharon F. Suchy, David J. Bernard, Richard A. Lewis, Robert L. Nussbaum

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 103 KB

english, 1997

20

Fatty Acids in Biotin Deficiency

SHARON F. SUCHY, WILLIAM B. RIZZO, BARRY WOLF

Journal:

Annals of the New York Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 48 KB

english, 1985

21

Reply

Barry Wolf, Sharon Suchy, Robert Grier

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 118 KB

english, 1984

22

Glycinelserine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia

Christine Mesavage, Carol S. Nance, David B. Flannery, Debra L. Weiner, Sharon F. Suchy, Barry Wolf

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 265 KB

english, 1983

23

Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy

Friedman, Bethany, Simpson, Kara, Tesi-Rocha, Carolina, Zhou, Delu, Palmer, Cheryl A., Suchy, Sharon F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 743 KB

english, 2014

24

Obituary.

Bai, Renkui, Haverfield, Eden, Higgs, Jaimie, Suchy, Sharon F., Arjona, Dolores, Retterer, Kyle, Smaoui, Nizar, Richard, Gabriele, Bale, Sherri, Kendall, Fran D., Parikh, Sumit, Gropman, Andrea L., Ha

Journal:

Year:

1871

Language:

english

File:

PDF, 189 KB

english, 1871

25

The expression of a fucosyl-ganglioside in the molecular layer of the dentate gyrus following entorhinal cortical lesions

Suchy, Sharon F., Schwarting, Gerald A., Lehco, BonnéA., Ramirez, Julio J.

Journal:

Neuroscience Letters

Year:

1991

Language:

english

File:

PDF, 656 KB

english, 1991

26

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Suchy, Sharon F., Olivos-Glander, Isabelle M., Nussbaum, Robert L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.65 MB

english, 1995

27

The Expression of H-like Blood Group Glycolipids in Small Cell Carcinoma of the Lung

CUALING, HERNANI, SIEGEL, ROBERT, SCHWARTING, GERALD A., SUCHY, SHARON F., McCLUER, ROBERT H., BERNAL, SAMUEL

Journal:

Year:

1993

Language:

english

File:

PDF, 3.94 MB

english, 1993

28

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 424 KB

english, 2015

29

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Aradhya, Swaroop, Lewis, Rachel, Bonaga, Tahrra, Nwokekeh, Nnenna, Stafford, Amanda, Boggs, Barbara, Hruska, Kathleen, Smaoui, Nizar, Compton, John G., Richard, Gabriele, Suchy, Sharon

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 592 KB

english, 2012

30

Amino Acids in Amniotic Fluid in the Second Trimester of Gestation

Christine Mesavage, W, Suchy, Sharon F, Weiner, Debra L, Nance, Carol S, Flannery, David B, Wolf, Barry

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 372 KB

english, 1985

31

Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]

Senanayake, Danika Nadeen, Jasinge, Eresha A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 106 KB

english, 2016

32

Putamen coactivation during motor task execution

Marchand, William R., Lee, James N., Thatcher, John W., Hsu, Edward W., Rashkin, Esther, Suchy, Yana, Chelune, Gordon, Starr, Jennifer, Barbera, Sharon Steadman

Journal:

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

33

BIOTINIDASE ACTIVITY IN BRAIN AND ITS IMPLICATION IN BIOTINIDASE DEFICIENCY

Suchy, Sharon F, Wolf, Barry

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 148 KB

english, 1984

34

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

Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Ber

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.82 MB

english, 2018

35

A Tissue-Engineering Technique for Vascularized Laryngotracheal Reconstruction

Glatz, Frank, Neumeister, Michael, Suchy, Hans, Lyons, Sharon, Damikas, Dimitri, Mowlavi, Arian

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2003

Language:

english

File:

PDF, 206 KB

english, 2003