Search Results - "Kornreich, Ruth"

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants by Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.

“…Purpose We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these…”
Get full text

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy by Luo, Minjie, Liu, Liu, Peter, Inga, Zhu, Jun, Scott, Stuart A., Zhao, Geping, Eversley, Chevonne, Kornreich, Ruth, Desnick, Robert J., Edelmann, Lisa

“…Purpose: Spinal muscular atrophy is a common autosomal-recessive disorder caused by mutations of the SMN1 gene. Spinal muscular atrophy carrier screening uses…”
Get full text

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects by Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

“…Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The…”
Get full text

Analytical validation of whole exome and whole genome sequencing for clinical applications by Linderman, Michael D, Brandt, Tracy, Edelmann, Lisa, Jabado, Omar, Kasai, Yumi, Kornreich, Ruth, Mahajan, Milind, Shah, Hardik, Kasarskis, Andrew, Schadt, Eric E

“…Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by a growing number of laboratories. As part of the test design process…”
Get full text

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system by Belbin, Gillian Morven, Odgis, Jacqueline, Sorokin, Elena P, Yee, Muh-Ching, Kohli, Sumita, Glicksberg, Benjamin S, Gignoux, Christopher R, Wojcik, Genevieve L, Van Vleck, Tielman, Jeff, Janina M, Linderman, Michael, Schurmann, Claudia, Ruderfer, Douglas, Cai, Xiaoqiang, Merkelson, Amanda, Justice, Anne E, Young, Kristin L, Graff, Misa, North, Kari E, Peters, Ulrike, James, Regina, Hindorff, Lucia, Kornreich, Ruth, Edelmann, Lisa, Gottesman, Omri, Stahl, Eli Ea, Cho, Judy H, Loos, Ruth Jf, Bottinger, Erwin P, Nadkarni, Girish N, Abul-Husn, Noura S, Kenny, Eimear E

“…Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical…”
Get full text

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection by Scott, Stuart A., Scott, Erick R., Seki, Yoshinori, Chen, Annette J., Wallsten, Richard, Owusu Obeng, Aniwaa, Botton, Mariana R., Cody, Neal, Shi, Huanzhi, Zhao, Geping, Brake, Paul, Nicoletti, Paola, Yang, Yao, Delio, Maria, Shi, Lisong, Kornreich, Ruth, Schadt, Eric E., Edelmann, Lisa

“…To develop a novel pharmacogenetic genotyping panel, a multidisciplinary team evaluated available evidence and selected 29 genes implicated in interindividual…”
Get full text

Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization by Saunders-Pullman, Rachel, Hagenah, Johann, Dhawan, Vijay, Stanley, Kaili, Pastores, Gregory, Sathe, Swati, Tagliati, Michele, Condefer, Kelly, Palmese, Christina, Brüggemann, Norbert, Klein, Christine, Roe, AM, Kornreich, Ruth, Ozelius, Laurie, Bressman, Susan

“…Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as…”
Get full text

P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults by Li, Wenjiao, Stauffer, Brandon, Chen, Hongjie, Xiao, Jing, Phua, Yu Leng, Cody, Neal, Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert, Yu, Chunli

Get full text

P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels by Cody, Neal, Phua, Yu Leng, Li, Wenjiao, Nazarenko, Irina, Stauffer, Brandon, Chen, Hongjie, Xiao, Jing, Edelmann, Lisa, Kornreich, Ruth, Yu, Chunli, Desnick, Robert

Get full text

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Akler, Gidon, Birch, Ashley H., Schreiber‐Agus, Nicole, Cai, Xiaoqiang, Cai, Guiqing, Shi, Lisong, Yu, Chunli, Larmore, Anastasia M., Mendiratta‐Vij, Geetu, Elkhoury, Lama, Dillon, Mitchell W., Zhu, Jun, Mclellan, Andrew S., Suer, Funda E., Webb, Bryn D., Schadt, Eric E., Kornreich, Ruth, Edelmann, Lisa

“…Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening…”
Get full text

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes by Pratt, Victoria M, Everts, Robin E, Aggarwal, Praful, Beyer, Brittany N, Broeckel, Ulrich, Epstein-Baak, Ruth, Hujsak, Paul, Kornreich, Ruth, Liao, Jun, Lorier, Rachel, Scott, Stuart A, Smith, Chingying Huang, Toji, Lorraine H, Turner, Amy, Kalman, Lisa V

“…Pharmacogenetic testing is increasingly available from clinical laboratories. However, only a limited number of quality control and other reference materials…”
Get full text

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population by Haghighi, Alireza, Rezazadeh, Jamileh, Shadmehri, Azam Ahmadi, Haghighi, Amirreza, Kornreich, Ruth, Desnick, Robert J

“…The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated…”
Get full text

Clinical Pharmacogenomic MT‐RNR1 Screening for Aminoglycoside‐Induced Ototoxicity and the Post‐Test Counseling Conundrum by Rigobello, Robert, Shaw, Jay, Ilg, Daniel, Zimmerman, Rebekah, Edelmann, Lisa, Kornreich, Ruth, Scott, Stuart A., Cody, Neal

“…Aminoglycoside antibiotic exposure can result in ototoxicity and irreversible hearing loss among individuals that harbor the m.1555A>G variant in the…”
Get full text

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants by Haghighi, Alireza, Alvandi, Zahra, Nilipour, Yalda, Haghighi, Amirreza, Kornreich, Ruth, Nafissi, Shahriar, Desnick, Robert J

“…Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple complications due…”
Get full text

eP322: Comparison of genetic ancestry to self-reported ethnicity and impact upon residual risk following expanded carrier screening by Birch, Ashley, Machado, Moara, Webb, Bryn, Zimmerman, Rebekah, Kornreich, Ruth, Edelmann, Lisa

Get full text

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases by Scott, Stuart A, Edelmann, Lisa, Liu, Liu, Luo, Minjie, Desnick, Robert J, Kornreich, Ruth

“…The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels…”
Get full text

Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups by Scott, Stuart A, Khasawneh, Rame, Peter, Inga, Kornreich, Ruth, Desnick, Robert J

“…CYP4F2*3 (p.V433M) has been associated with higher warfarin dose requirements; however, its frequency, like other CYP2C9 and VKORC1 variants, has not been…”
Get more information

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease by Gan-Or, Ziv, Ozelius, Laurie J, Bar-Shira, Anat, Saunders-Pullman, Rachel, Mirelman, Anat, Kornreich, Ruth, Gana-Weisz, Mali, Raymond, Deborah, Rozenkrantz, Liron, Deik, Andres, Gurevich, Tanya, Gross, Susan J, Schreiber-Agus, Nicole, Giladi, Nir, Bressman, Susan B, Orr-Urtreger, Avi

“…To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and…”
Get full text

Value of the Continued Use of the Hexosaminidase A Enzyme Assay for Reproductive Carrier Screening [21O] by Yu, Chunli, Liao, Jun, Gross, Susan, Chen, Hongjie, Edelmann, Lisa, Kornreich, Ruth

“…INTRODUCTION:With the trend towards next-generation screening (NGS) for reproductive carrier screening, the value of Hexosaminidase A (HexA) enzyme assays for…”
Get full text

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project by Pratt, Victoria M, Everts, Robin E, Aggarwal, Praful, Beyer, Brittany N, Broeckel, Ulrich, Epstein-Baak, Ruth, Hujsak, Paul, Kornreich, Ruth, Liao, Jun, Lorier, Rachel, Scott, Stuart A, Smith, Chingying Huang, Toji, Lorraine H, Turner, Amy, Kalman, Lisa V

“…Pharmacogenetic testing is increasingly available from clinical laboratories. However, only a limited number of quality control and other reference materials…”
Get full text