A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia

por Higinbotham, Alissa S., DeBrosse, Suzanne D., Kilbane, Camilla W.
Publicado 2023

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita

por Friedman, Cameron D., DeBrosse, Suzanne, Mitchell, Anna, Horn, Joanna, Merrill, Michelle
Publicado 2023

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

por Hannah, William B., DeBrosse, Suzanne, Kinghorn, BreAnna, Strausbaugh, Steven, Aitken, Moira L., Rosenfeld, Margaret, Wolf, Whitney E., Knowles, Michael R., Zariwala, Maimoona A.
Publicado 2019

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

por Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicado 2019

FHF1 (FGF12) epileptic encephalopathy

por Al-Mehmadi, Sameer, Splitt, Miranda, Ramesh, Venkateswaran, DeBrosse, Suzanne, Dessoffy, Kimberly, Xia, Fan, Yang, Yaping, Rosenfeld, Jill A., Cossette, Patrick, Michaud, Jacques L., Hamdan, Fadi F., Campeau, Philippe M., Minassian, Berge A.
Publicado 2016

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and...

por Bedoyan, Jirair K., Hage, Rosemary, Shin, Ha Kyung, Linard, Sharon, Ferren, Edwin, Ducich, Nicole, Wilson, Kirkland, Lehman, April, Schillaci, Lori‐Anne, Manickam, Kandamurugu, Mori, Mari, Bartholomew, Dennis, DeBrosse, Suzanne, Cohen, Bruce, Parikh, Sumit, Kerr, Douglas
Publicado 2020

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

por Rosewich, Hendrik, Sweney, Matthew T., DeBrosse, Suzanne, Ess, Kevin, Ozelius, Laurie, Andermann, Eva, Andermann, Frederick, Andrasco, Gene, Belgrade, Alice, Brashear, Allison, Ciccodicola, Sharon, Egan, Lynn, George, Alfred L., Lewelt, Aga, Magelby, Joshua, Merida, Mario, Newcomb, Tara, Platt, Vicky, Poncelin, Dominic, Reyna, Sandra, Sasaki, Masayuki, Sotero de Menezes, Marcio, Sweadner, Kathleen, Viollet, Louis, Zupanc, Mary, Silver, Kenneth, Swoboda, Kathryn
Publicado 2017

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

por Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Publicado 2015

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

por Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Publicado 2015