Penicillamine therapy in pediatric cystinuria: experience from a cohort of American children

af DeBerardinis, Ralph J., Coughlin, Curtis R., Kaplan, Paige
Udgivet 2008

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

af Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H
Udgivet 2012

Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

af Coughlin, Curtis R., Hyland, Keith, Randall, Rebecca, Ficicioglu, Can
Udgivet 2012

Child Neurology: A case illustrating the role of imaging in evaluation of sudden infant death

af Kranick, Sarah M., Ganesh, Jaya, Coughlin, Curtis R., Licht, Daniel J.
Udgivet 2009

Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606–618.

af Swanson, Michael A., Coughlin, Curtis R., Van Hove, Johan L. K.
Udgivet i Ann Neurol (2016)

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

af Bernstein, Laurie, Coughlin, Curtis R., Drumm, Morgan, Yannicelli, Steven, Rohr, Fran
Udgivet i Nutrients (2020)

Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish

af Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
Udgivet i Biol Open (2020)

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

af Berry, Susan A., Coughlin, Curtis R., McCandless, Shawn, McCarter, Robert, Seminara, Jennifer, Yudkoff, Mark, LeMons, Cynthia
Udgivet i Genet Med (2019)

Low Bone Mineral Density is a Common Finding in Patients with Homocystinuria

af Weber, David R., Coughlin, Curtis, Brodsky, Jill L., Lindstrom, Kristin, Ficicioglu, Can, Kaplan, Paige, Freehauf, Cynthia L., Levine, Michael A.
Udgivet i Mol Genet Metab (2015)

Development and Application of an Ethical Framework for Pediatric Metabolic and Bariatric Surgery Evaluation

af Moore, Jaime M., Glover, Jacqueline J., Jackson, Brian M., Coughlin, Curtis R., Kelsey, Megan M., Inge, Thomas H., Boles, Richard E.
Udgivet i Surg Obes Relat Dis (2020)

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease...

af Yu, Hung-Chun, Coughlin, Curtis R., Geiger, Elizabeth A., Salvador, Blake J., Elias, Ellen R., Cavanaugh, Jean L., Chatfield, Kathryn C., Miyamoto, Shelley D., Shaikh, Tamim H.
Udgivet i Cold Spring Harb Mol Case Stud (2016)

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

af Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi J L, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H
Udgivet i Genetics (2021)

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

af Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A., Wartchow, Eric P., Van Hove, Johan L.K.
Udgivet i Mitochondrion (2015)

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

af Friederich, Marisa W., Erdogan, Alican J., Coughlin, Curtis R., Elos, Mihret T., Jiang, Hua, O’Rourke, Courtney P., Lovell, Mark A., Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C., Chick, Wallace S., Spector, Elaine B., Van Hove, Johan L.K., Riemer, Jan
Udgivet i Hum Mol Genet (2017)

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

af Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
Udgivet i Ann Neurol (2015)

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

af Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S., Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A., Coughlin, Curtis R., Chow, Stephen K., McDonald-McGinn, Donna, Morrow, Bernice, Kwok, Pui-Yan, Xiao, Ming, Emanuel, Beverly S., Shaikh, Tamim H., Vermeesch, Joris R.
Udgivet i Genome Res (2019)

Application of a framework to guide genetic testing communication across clinical indications

af Hallquist, Miranda L. G., Tricou, Eric P., Ormond, Kelly E., Savatt, Juliann M., Coughlin, Curtis R., Faucett, W. Andrew, Hercher, Laura, Levy, Howard P., O’Daniel, Julianne M., Peay, Holly L., Stosic, Melissa, Smith, Maureen, Uhlmann, Wendy R., Wand, Hannah, Wain, Karen E., Buchanan, Adam H.
Udgivet i Genome Med (2021)

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

af Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Udgivet 2013

Clinical and biochemical characterization of four patients with mutations in ECHS1

af Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Udgivet i Orphanet J Rare Dis (2015)

Developing a Conceptual, Reproducible, Rubric-Based Approach to Consent and Result Disclosure for Genetic Testing by Clinicians with Minimal Genetics Background

af Ormond, Kelly E., Hallquist, Miranda L.G., Buchanan, Adam H., Dondanville, Danielle, Cho, Mildred K., Smith, Maureen, Roche, Myra, Brothers, Kyle B., Coughlin, Curtis R., Hercher, Laura, Hudgins, Louanne, Jamal, Seema, Levy, Howard P., Raskin, Misha, Stosic, Melissa, Uhlmann, Wendy, Wain, Karen E., Currey, Erin, Faucett, W. Andrew
Udgivet i Genet Med (2018)