Search Results - "Smith, Richard Jh"

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment by Shearer, A Eliot, Hildebrand, Michael S, Ravi, Harini, Joshi, Swati, Guiffre, Angelica C, Novak, Barbara, Happe, Scott, LeProust, Emily M, Smith, Richard J H

“…Targeted genomic enrichment (TGE) is a widely used method for isolating and enriching specific genomic regions prior to massively parallel sequencing. To make…”
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Solution-based targeted genomic enrichment for precious DNA samples by Shearer, Aiden Eliot, Hildebrand, Michael S, Smith, Richard J H

“…Solution-based targeted genomic enrichment (TGE) protocols permit selective sequencing of genomic regions of interest on a massively parallel scale. These…”
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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period by Bazazzadegan, Niloofar, Vazehan, Raheleh, Fadaee, Mahsa, Fattahi, Zohreh, Abolhassani, Ayda, Parsimehr, Elham, Kalhor, Zahra, Faraji Zonooz, Mehrshid, Ahangari, Fatemeh, Dehdahsi, Shima, Samiee, Farshide, Jamali, Payman, Habibi, Haleh, Nourizadeh, Younes, Mahdavi, Shokouh, Beheshtian, Maryam, Kariminejad, Ariana, Smith, Richard Jh, Najmabadi, Hossein

“…Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important especially in countries with high rates of consanguinity where the…”
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Maternally inherited hearing impairment by Van Camp, Guy, Smith, Richard Jh

“…Mitochondria are intracellular organelles responsible for the majority of a cell's energy production. They have their own small maternally inherited genome…”
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Advances in Molecular and Cellular Therapies for Hearing Loss by Hildebrand, Michael S, Newton, Stephen S, Gubbels, Samuel P, Sheffield, Abraham M, Kochhar, Amit, de Silva, Michelle G, Dahl, Hans-Henrik M, Rose, Scott D, Behlke, Mark A, Smith, Richard JH

“…Development of effective therapeutics for hearing loss has proven to be a slow and difficult process, evidenced by the lack of restorative medicines and…”
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C3 glomerulopathy associated with monoclonal Ig is a distinct subtype by Ravindran, Aishwarya, Fervenza, Fernando C, Smith, Richard J H, Sethi, Sanjeev

“…Monoclonal immunoglobulins (MIg) may play a causal role in C3 glomerulopathy (C3G) by impairing regulation of the alternative pathway of complement…”
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss by Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.

“…Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has…”
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Genetic testing hearing loss: The challenge of non syndromic mimics by Gooch, Catherine, Rudy, Natasha, Smith, Richard JH, Robin, Nathaniel H.

“…Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic…”
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RNA Interference Prevents Autosomal-Dominant Hearing Loss by Shibata, Seiji B., Ranum, Paul T., Moteki, Hideaki, Pan, Bifeng, Goodwin, Alexander T., Goodman, Shawn S., Abbas, Paul J., Holt, Jeffrey R., Smith, Richard J.H.

“…Hearing impairment is the most common sensory deficit. It is frequently caused by the expression of an allele carrying a single dominant missense mutation…”
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Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment by Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard Jh

“…Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying the…”
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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome by Maga, Tara K, Nishimura, Carla J, Weaver, Amy E, Frees, Kathy L, Smith, Richard J.H

“…Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an…”
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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing by Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H., King, Mary-Claire

“…The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using available methods. To assess…”
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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran by Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila, Vaziri, Saeideh, Akhtarkhavari, Tara, Bazazzadegan, Niloofar, Nikzat, Nooshin, Arzhangi, Sanaz, Sabbagh, Farahnaz, Otukesh, Hasan, Seifati, Seyed Morteza, Khodaei, Hossein, Taghdiri, Maryam, Meyer, Nicole C, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard J H, Azaiez, Hela, Najmabadi, Hossein

“…Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary…”
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Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome by Zhang, Yuzhou, Kremsdorf, Robin A, Sperati, C John, Henriksen, Kammi J, Mori, Mari, Goodfellow, Renee X, Pitcher, Gabriella R, Benson, Cindy L, Borsa, Nicolo Ghiringhelli, Taylor, Ronald P, Nester, Carla M, Smith, Richard J H

“…Atypical hemolytic uremic syndrome is an ultra-rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. Its…”
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Sensorineural hearing loss in children by Smith, Richard JH, Bale, James F, White, Karl R

“…During the past three to four decades, the incidence of acquired sensorineural hearing loss (SNHL) in children living in more developed countries has fallen,…”
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TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss by Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji B., Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.

“…ABSTRACT Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing,…”
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International Pediatric Otolaryngology group (IPOG) consensus on the diagnosis and management of pediatric obstructive sleep apnea (OSA) by Benedek, Pálma, Balakrishnan, Karthik, Cunningham, Michael J., Friedman, Norman R., Goudy, Steven L., Ishman, Stacey L., Katona, Gábor, Kirkham, Erin M., Lam, Derek J., Leboulanger, Nicolas, Lee, Gi Soo, Le Treut, Claire, Mitchell, Ron B., Muntz, Harlan R., Musso, Mary Fances, Parikh, Sanjay R., Rahbar, Reza, Roy, Soham, Russell, John, Sidell, Douglas R., Sie, Kathleen C.Y., Smith, Richard JH, Soma, Marlene A., Wyatt, Michelle E., Zalzal, George, Zur, Karen B., Boudewyns, An

“…To develop an expert-based consensus of recommendations for the diagnosis and management of pediatric obstructive sleep apnea. A two-iterative Delphi method…”
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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome by Yang, Tao, Gurrola, Jose G., Wu, Hao, Chiu, Sui M., Wangemann, Philine, Snyder, Peter M., Smith, Richard J.H.

“…Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the…”
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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein by Avenarius, Matthew R., Hildebrand, Michael S., Zhang, Yuzhou, Meyer, Nicole C., Smith, Luke L.H., Kahrizi, Kimia, Najmabadi, Hossein, Smith, Richard J.H.

“…Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic…”
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Genetic male infertility and mutation of CATSPER ion channels by HILDEBRAND, Michael S, AVENARIUS, Matthew R, SMITH, Richard Jh, FELLOUS, Marc, YUZHOU ZHANG, MEYER, Nicole C, AUER, Jana, SERRES, Catherine, KAHRIZI, Kimia, NAJMABADI, Hossein, BECKMANN, Jacques S

“…A clinically significant proportion of couples experience difficulty in conceiving a child. In about half of these cases male infertility is the cause and…”
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