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S. Suchy · SciRah

Researcher profile · Semantic Scholar

S. Suchy

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S. Suchy — researcher profile on SciRah

h-index: 23
Works: 56
Citations: 3,218

Most-cited papers

Clinical application of whole-exome sequencing across clinical indications
K. Retterer, J. Juusola, M. Cho, P. Vitazka +17 more
2015Genetics in Medicine975 citations Open access
Semantic Scholar
Dent Disease with mutations in OCRL1.
R. Hoopes, A. Shrimpton, Stephen J. Knohl, P. Hueber +8 more
2005American Journal of Human Genetics318 citations Open access
Semantic Scholar
Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry
M. Wenk, Louise J. Lucast, G. Di Paolo, Anthony J. Romanelli +6 more
2003Nature Biotechnology250 citations
Semantic Scholar
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
P. Jänne, S. Suchy, David J. Bernard, M. MacDonald +5 more
1998Journal of Clinical Investigation174 citations Open access
Semantic Scholar
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
S. Suchy, R. Nussbaum
2002American Journal of Human Genetics149 citations Open access
Semantic Scholar
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease
Eva Mezey, A. Dehejia, G. Harta, N. Tresser +4 more
1998Molecular Psychiatry135 citations
Semantic Scholar
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
S. Suchy, I. Olivos-Glander, Robert L. Nussbaum
1995Human Molecular Genetics134 citations
Semantic Scholar
Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells
M. Dressman, I. Olivos-Glander, R. Nussbaum, S. Suchy
2000Journal of Histochemistry and Cytochemistry107 citations
Semantic Scholar
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
Ti Lin, B. Orrison, A. Leahey, S. Suchy +3 more
1997American Journal of Human Genetics103 citations Open access
Semantic Scholar
Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis.
S. Srinivasan, M. Seaman, Y. Nemoto, L. Daniell +4 more
1997European Journal of Cell Biology94 citations
Semantic Scholar
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
J. N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir +28 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
B. Ng, P. Sosicka, S. Agadi, M. Almannai +65 more
2019Human Mutation67 citations Open access
Semantic Scholar
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
B. Ng, Gege Xu, Nandini Chandy, Joan M. Steyermark +11 more
2018American Journal of Human Genetics61 citations Open access
Semantic Scholar
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
S. Aradhya, R. Lewis, Tahrra Bonaga, N. Nwokekeh +7 more
2012Genetics in Medicine57 citations Open access
Semantic Scholar
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
U. Lichter-Konecki, L. W. Farber, J. S. Cronin, S. Suchy +1 more
2006Molecular Genetics and Metabolism51 citations
Semantic Scholar
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
Ti Lin, B. Orrison, S. Suchy, R. Lewis +1 more
1998Molecular Genetics and Metabolism49 citations
Semantic Scholar
Sertoli Cell Vacuolization and Abnormal Germ Cell Adhesion in Mice Deficient in an Inositol Polyphosphate 5-Phosphatase1
E. Hellsten, David J. Bernard, J. Owens, M. Eckhaus +2 more
2002Biology of Reproduction44 citations
Semantic Scholar
Neurologic symptoms of biotinidase deficiency
S. Suchy, Julie R. Secor Mcvoy, B. Wolf
1985Neurology38 citations
Semantic Scholar
Unusual renal features of Lowe syndrome in a mildly affected boy.
A. Gropman, S. Levin, Lynne P. Yao, Ti Lin +4 more
2000American journal of medical genetics32 citations
Semantic Scholar
Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids.
S. Suchy, William B. Rizzo, Barry Wolf
1986American Journal of Clinical Nutrition28 citations Open access
Semantic Scholar
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
S. Suchy, Barry Wolf
1986American Journal of Clinical Nutrition27 citations
Semantic Scholar
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
S. Hiatt, M. Neu, R. Ramaker, Andrew A. Hardigan +29 more
2018bioRxiv26 citations Open access
Semantic Scholar
A monoclonal antibody, WCC4, recognizes a developmentally regulated ganglioside containing alpha-galactose and alpha-fucose present in the rat nervous system.
S. Suchy, Miyuki Yamamoto, L. Barbero, G. Schwarting
1988Brain Research23 citations
Semantic Scholar
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
X. Latypova, M. Vincent, Alice Mollé, O. Adebambo +42 more
2021American Journal of Human Genetics22 citations Open access
Semantic Scholar
First report of prenatal biochemical diagnosis of Lowe syndrome
S. Suchy, Ti Lin, Juli Horwitz, W. E. O'Brien +1 more
1998Prenatal Diagnosis21 citations
Semantic Scholar
Glycinelserine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia
Christine Mesavage, C. Nance, D. Flannery, Debra L. Weiner +2 more
1983Clinical Genetics20 citations
Semantic Scholar
Amino Acids in Amniotic Fluid in the Second Trimester of Gestation
W. C. Mesavage, S. Suchy, Debra L. Weiner, C. Nance +2 more
1985Pediatric Research19 citations
Semantic Scholar
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Renkui Bai, H. Cui, J. Devaney, Katrina Allis +13 more
2021Genetics in Medicine17 citations Open access
Semantic Scholar
Down Syndrome Screening in Women Under 35 With Maternal Serum hCG
S. Suchy, Maria T. Yeager
1990Obstetrics and Gynecology14 citations
Semantic Scholar
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.
M. Pefkianaki, M. Hasanreisoğlu, S. Suchy, C. Shields
2016Journal of pediatric ophthalmology and strabismus13 citations
Semantic Scholar
A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis.
Mary Rose Valina, Christopher P. Larsen, Sherry Kanosky, S. Suchy +2 more
2013Clinical Nephrology13 citations
Semantic Scholar
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease
É. Mezey, A. Dehejia, G. Harta, N. Tresser +4 more
1999Molecular Psychiatry13 citations Open access
Semantic Scholar
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children
Danika Nadeen Senanayake, E. Jasinge, K. Pindolia, J. Wanigasinghe +5 more
2015Molecular Genetics and Metabolism Reports12 citations Open access
Semantic Scholar
Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrl1
S. Suchy, J. Cronin, R. Nussbaum
2009Journal of Inherited Metabolic Disease11 citations Open access
Semantic Scholar
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
S. Suchy, Barry Wolf
1982The Lancet10 citations
Semantic Scholar
The expression of a fucosyl-ganglioside in the molecular layer of the dentate gyrus following entorhinal cortical lesions.
S. Suchy, G. Schwarting, BonnéA. Lehco, J. J. Ramirez
1991Neuroscience Letters7 citations
Semantic Scholar
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
B. Friedman, K. Simpson, C. Tesi-Rocha, De-Lu Zhou +2 more
2014Neuromuscular Disorders4 citations
Semantic Scholar
False‐positive amniotic fluid acetylcholinesterase analysis in the third trimester
S. Suchy, Maria T. Yeager
1993Prenatal Diagnosis4 citations
Semantic Scholar
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
J. N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir +28 more
2018Genetics in Medicine3 citations Open access
Semantic Scholar
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature
S. Mohan, M. Mayers, Meredith A. Weaver, Heather Baudet +9 more
2023Molecular Genetics and Metabolism2 citations
Semantic Scholar
Fatty Acids in Biotin Deficiency
S. Suchy, William B. Rizzo, B. Wolf
19852 citations
Semantic Scholar
Comparison of the Diagnostic Yield of Comprehensive and Phenotypically Driven Multi-Gene Panels for Neuromuscular Disorders (P5.055)
Amanda Lindy, M. Bradbury, S. Suchy, D. McKnight
2016Neurology1 citations
Semantic Scholar
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]
Danika Nadeen Senanayake, E. Jasinge, K. Pindolia, J. Wanigasinghe +5 more
2016Molecular Genetics and Metabolism Reports1 citations Open access
Semantic Scholar
Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases
Renkui Bai, Jaimie Higgs, S. Suchy, D. Arjona +7 more
20131 citations
Semantic Scholar
PCR-based targeted enrichment and next-generation sequencing of 101 nuclear genes for the diagnosis of mitochondrial disorders
Renkui Bai, Jaimie Higgs, S. Suchy, Federica Gibellini +9 more
20121 citations
Semantic Scholar
The Expression of H-like Blood Group Glycolipids in Small Cell Carcinoma of the Lung
Hernani M. Cualing, Robert W. Siegel, G. A. Schwarting, S. Suchy +2 more
1993Hybridoma1 citations
Semantic Scholar
O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
Emily Groopman, Amanda Thomas-Wilson, S. Mohan, J. Goldstein +13 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Genotype-Phenotype Relationships in Peripheral Neuropathies: Challenging the ‘Status Quo’ (P5.019)
Tracy Brandt, Courtney Downtain Pickersgill, S. Suchy
2016Neurology0 citations
Semantic Scholar
Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases
Renkui Bai, Amanda Balog, Jaimie Higgs, K. Retterer +15 more
20150 citations
Semantic Scholar
Evaluating the Diagnostic Yield of a Multi-Gene Panel for Charcot-Marie-Tooth and Related Neuropathies (P2.032)
Courtney Downtain Pickersgill, S. Suchy, Tracy Brandt
2015Neurology0 citations
Semantic Scholar

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