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101

571: Noninvasive fetal RhD typing in women with alloimmunization: a cost-effective analysis

Sutton, Amelia, Reid, Kayla, Biggio, Joseph, Harper, Lorie

Journal:

American Journal of Obstetrics and Gynecology

Year:

2015

Language:

english

File:

PDF, 496 KB

english, 2015

102

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

Glinton, Kevin E., Benke, Paul J., Lines, Matthew A., Geraghty, Michael T., Chakraborty, Pranesh, Al-Dirbashi, Osama Y., Jiang, Yi, Kennedy, Adam D., Grotewiel, Michael S., Sutton, V. Reid, Elsea, Sar

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 879 KB

english, 2017

103

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5

Dagdeviren, Didem, Tamimi, Faleh, Lee, Brendan, Sutton, Reid, Rauch, Frank, Retrouvey, Jean-Marc

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

104

Corrigendum to âThe long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VIIâ [Mol Genet Metab 2020 Mar;129(3):219â227]

Wang, Raymond Y., da Silva Franco, JosÃ© Francisco, LÃ³pez-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon Reid, Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka,

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 156 KB

2020

105

Risk categorization for oversight of laboratory-developed tests for inherited conditions

Monaghan, Kristin G., Benkendorf, Judith, Cherry, Athena M., Gross, Susan J., Richards, C. Sue, Sutton, Vernon Reid, Watson, Michael S.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 390 KB

english, 2013

106

Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening

Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 790 KB

english, 2017

107

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy, Adam D., Miller, Marcus J., Beebe, Kirk, Wulff, Jacob E., Evans, Anne M., Miller, Luke A.D., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2016

Language:

english

File:

PDF, 930 KB

english, 2016

108

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Lee, Chae Syng, Fu, He, Baratang, Nissan, Rousseau, Justine, Kumra, Heena, Sutton, V. Reid, Niceta, Marcello, Ciolfi, Andrea, Yamamoto, Guilherme, Bertola, Débora, Marcelis, Carlo L., Lugtenberg, Dori

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.02 MB

english, 2017

109

Assessment of Longitudinal Bone Growth in Osteogenesis Imperfecta Using Metacarpophalangeal Pattern Profiles

Rauch, Damian, Robinson, Marie-Eve, Seiltgens, Cristian, Sutton, V. Reid, Lee, Brendan, Glorieux, Francis, Rauch, Frank

Journal:

Year:

2020

File:

PDF, 551 KB

2020

110

Regional localization of the mouse argininosuccinate lyase gene to Chromosome 5

V. Reid Sutton, Yanzhen Pan, William J. Craigen

Journal:

Mammalian Genome

Year:

1997

Language:

english

File:

PDF, 1.79 MB

english, 1997

111

Genetics in the Twenty-First Century

Gambello, Michael J., Sutton, V. Reid

Journal:

Clinics in Perinatology

Year:

2015

Language:

english

File:

PDF, 151 KB

english, 2015

112

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lis

Journal:

Frontiers in Neuroscience

Year:

2020

Language:

english

File:

PDF, 459 KB

english, 2020

113

Dilute Triton X-100 in water as a reference liquid for hydrometer calibration using Cuckow’s method

Robinson, J.E., Sutton, C.M., Reid, G.F.

Journal:

Year:

2014

Language:

english

File:

PDF, 399 KB

english, 2014

114

Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update

Gambello, Michael J., Sutton, V. Reid

Journal:

Clinics in Perinatology

Year:

2015

File:

PDF, 23 KB

2015

115

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka R., Evans, Anne M., Wulff, Jacob E., Miller, Luke A.D., Reid Sutton, V., Sun, Qin, Miller, Marcus J., Elsea, Sarah H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.66 MB

english, 2017

116

A case of segmental paternal isodisomy of chromosome 14

Karen J. Coveler, Sam P. Yang, Reid V. Sutton, Jay M. Milstein, Yuan-Qing Wu, Cami Bois, Linda S. Beischel, John P. Johnson, Lisa G. Shaffer

Journal:

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

117

The Gender Medicine Team: “It Takes a Village”

Marni E. Axelrad, Jonathan S. Berg, Leslie Ayensu Coker, Jennifer Dietrich, Lisa Adcock, Shannon L. French, Sheila Gunn, B. Lee Ligon, Laurence B. McCullough, V. Reid Sutton, Lefkothea P. Karaviti

Journal:

Advances in Pediatrics

Year:

2009

Language:

english

File:

PDF, 246 KB

english, 2009

118

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

Atwal, Paldeep S, Medina, Casey R, Burrage, Lindsay C, Sutton, V Reid

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

119

Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII

Wang, Raymond, da Silva Franco, José Francisco, Harmatz, Paul, López-Valdez, Jaime, Martins, Esmeralda, Reid Sutton, V., Whitley, Chester B., Chanda, Amanda, Song, Wenjie, Ali, Qais Abu, Haller, Chris

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

120

Non-random X chromosome inactivation in Aicardi syndrome

Tanya N. Eble, V. Reid Sutton, Haleh Sangi-Haghpeykar, Xiaoling Wang, Weihong Jin, Richard A. Lewis, Ping Fang, Ignatia B. Van den Veyver

Journal:

Year:

2009

Language:

english

File:

PDF, 313 KB

english, 2009

121

Natural history of propionic acidemia

Loren Pena, Jill Franks, Kimberly A. Chapman, Andrea Gropman, Nicholas Ah Mew, Anupam Chakrapani, Eddie Island, Erin MacLeod, Dietrich Matern, Brittany Smith, Kathy Stagni, V. Reid Sutton, Keiko Ueda,

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

122

An early analysis of the cost-effectiveness of a diagnostic classifier for risk stratification of haematuria patients (DCRSHP) compared to flexible cystoscopy in the diagnosis of bladder cancer

Sutton, Andrew J., Lamont, John V., Evans, R. Mark, Williamson, Kate, O’Rourke, Declan, Duggan, Brian, Sagoo, Gurdeep S., Reid, Cherith N., Ruddock, Mark W., Thavorn, Kednapa

Journal:

Year:

2018

Language:

english

File:

PDF, 2.03 MB

english, 2018

123

Ophthalmologic findings in Aicardi syndrome

Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van den Veyver, Richard A. Lewis

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

124

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Br

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 496 KB

english, 2017

125

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben-Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 589 KB

english, 2008

126

Chronic management and health supervision of individuals with propionic acidemia

V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Sm

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 230 KB

english, 2012

127

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

128

Backtalk

Wayne M. Sutton, Richard J. Weigler, William Ishee, Ed Hopkins, Gerald W. Bracey, George T. Rhine, Michael E. McClellan, John C. Maxwell, Mildred Sandison Fenner Reid, Dan B. Fleming and Donald Oppewa

Journal:

The Phi Delta Kappan

Year:

1982

Language:

english

File:

PDF, 1.32 MB

english, 1982

129

Newborn screening

Almannai, Mohammed, Marom, Ronit, Sutton, V. Reid

Journal:

Current Opinion in Pediatrics

Year:

2016

Language:

english

File:

PDF, 231 KB

english, 2016

130

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V

Retrouvey, Jean-Marc, Taqi, Doaa, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Hazboun, Renna, Krakow, Deborah, Sutton, V. Reid, Bober, Michael, Esposito, Paul, Eyre, David R.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.26 MB

english, 2018

131

Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study

Ma, Mang Shin, Najirad, Mohammadamin, Taqi, Doaa, Retrouvey, Jean-Marc, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Sutton, Vernon Reid, Rauch, Frank, Esfandiari, Shahrokh

Journal:

Special Care in Dentistry

Year:

2019

Language:

english

File:

PDF, 544 KB

english, 2019

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