Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase
Demirbas, Didem, Harris, David J, Arn, Pamela H, Huang, Xiaoping, Waisbren, Susan E, Anselm, Irina, Lerner‐Ellis, Jordan P, Wong, Lee‐Jun, Levy, Harvey L, Berry, Gerard T
Published in JIMD reports (01.03.2019)
Published in JIMD reports (01.03.2019)
Get full text
Journal Article
HLA Variation and SARS-CoV-2 Specific Antibody Response
Wolday, Dawit, Fung, Chun Yiu Jordan, Morgan, Gregory, Casalino, Selina, Frangione, Erika, Taher, Jennifer, Lerner-Ellis, Jordan P
Published in Viruses (31.03.2023)
Published in Viruses (31.03.2023)
Get full text
Journal Article
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
Lerner-Ellis, Jordan P, Anastasio, Natascia, Liu, Junhui, Coelho, David, Suormala, Terttu, Stucki, Martin, Loewy, Amanda D, Gurd, Scott, Grundberg, Elin, Morel, Chantal F, Watkins, David, Baumgartner, Matthias R, Pastinen, Tomi, Rosenblatt, David S, Fowler, Brian
Published in Human mutation (01.07.2009)
Published in Human mutation (01.07.2009)
Get full text
Journal Article
Characteristics of Adrenal Masses in Familial Adenomatous Polyposis
Shiroky, Jonah S, Lerner-Ellis, Jordan P, Govindarajan, Anand, Urbach, David R, Devon, Karen M
Published in Diseases of the colon & rectum (01.06.2018)
Published in Diseases of the colon & rectum (01.06.2018)
Get full text
Journal Article
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
Lerner-Ellis, Jordan P, Atkinson, Janet L, Dunbar, Gail V, Morgan, Kenneth, Hosack, Angela R, Gravel, Roy A, Lepage, Pierre, Tirone, Jamie C, Fujiwara, T Mary, Doré, Carole, Forgetta, Vince, Pawelek, Peter D, Antonicka, Hana, Shoubridge, Eric A, Coulton, James W, Rosenblatt, David S, Watkins, David, Moras, Emily, Leclerc, Daniel, Morel, Chantal F, Rommens, Johanna M, Dobson, C Melissa
Published in Nature genetics (01.01.2006)
Published in Nature genetics (01.01.2006)
Get full text
Journal Article
The clinical implementation of whole genome sequencing: a conversation with seven scientific experts
Get full text
Journal Article
Conference Proceeding
Ethics and genomic medicine, how to navigate decisions in surgical oncology
Devon, Karen M., Lerner-Ellis, Jordan P., Ganai, Sabha, Angelos, Peter
Published in Journal of surgical oncology (01.01.2015)
Published in Journal of surgical oncology (01.01.2015)
Get full text
Journal Article
Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
Tsai, Anne Chun‐Hui, Morel, Chantal F., Scharer, Gunter, Yang, Michael, Lerner‐Ellis, Jordan P., Rosenblatt, David S., Thomas, Janet A.
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
Get full text
Journal Article
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
Lerner-Ellis, Jordan P., Dobson, C. Melissa, Wai, Timothy, Watkins, David, Tirone, Jamie C., Leclerc, Daniel, Doré, Carole, Lepage, Pierre, Gravel, Roy A., Rosenblatt, David S.
Published in Human mutation (01.12.2004)
Published in Human mutation (01.12.2004)
Get full text
Journal Article
Gene Identification for the cblD Defect of Vitamin B12 Metabolism
Coelho, David, Suormala, Terttu, Stucki, Martin, Lerner-Ellis, Jordan P, Rosenblatt, David S, Newbold, Robert F, Baumgartner, Matthias R, Fowler, Brian
Published in The New England journal of medicine (03.04.2008)
Published in The New England journal of medicine (03.04.2008)
Get full text
Journal Article
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
Lerner-Ellis, Jordan P., Aldubayan, Saud H., Hernandez, Amy Lovelette, Kelly, Melissa Allard, Stuenkel, Aaron J., Walsh, Jennifer, Joshi, Victoria A.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
Get full text
Journal Article
Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism
Lerner-Ellis, Jordan P., Dobson, C. Melissa, Wai, Timothy, Watkins, David, Tirone, Jamie C., Leclerc, Daniel, Doré, Carole, Lepage, Pierre, Gravel, Roy A., Rosenblatt, David S.
Published in Human mutation (01.03.2005)
Published in Human mutation (01.03.2005)
Get full text
Journal Article
Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications
Gowrisankar, Sivakumar, Lerner-Ellis, Jordan P, Cox, Stephanie, White, Emily T, Manion, Megan, LeVan, Kevin, Liu, Jonathan, Farwell, Lisa M, Iartchouk, Oleg, Rehm, Heidi L, Funke, Birgit H
Published in The Journal of molecular diagnostics : JMD (01.11.2010)
Published in The Journal of molecular diagnostics : JMD (01.11.2010)
Get full text
Journal Article
Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence
Loewy, Amanda D., Niles, Kirsten M., Anastasio, Natascia, Watkins, David, Lavoie, Josée, Lerner-Ellis, Jordan P., Pastinen, Tomi, Trasler, Jacquetta M., Rosenblatt, David S.
Published in Molecular genetics and metabolism (01.04.2009)
Published in Molecular genetics and metabolism (01.04.2009)
Get full text
Journal Article
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria
Lerner-Ellis, Jordan P, Gradinger, Abigail B, Watkins, David, Tirone, Jamie C, Villeneuve, Amélie, Dobson, C Melissa, Montpetit, Alexandre, Lepage, Pierre, Gravel, Roy A, Rosenblatt, David S
Published in Molecular genetics and metabolism (01.03.2006)
Published in Molecular genetics and metabolism (01.03.2006)
Get full text
Journal Article
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria
Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Kadir, Hakan, Narang, Monica, Lerner-Ellis, Jordan P., Hudson, Thomas J., Rosenblatt, David S., Gravel, Roy A.
Published in Human molecular genetics (15.12.2002)
Published in Human molecular genetics (15.12.2002)
Get full text
Journal Article
Gene Identification for the cblD Defect of Vitamin B 12 Metabolism
Coelho, David, Suormala, Terttu, Stucki, Martin, Lerner-Ellis, Jordan P., Rosenblatt, David S., Newbold, Robert F., Baumgartner, Matthias R., Fowler, Brian
Published in The New England journal of medicine (03.04.2008)
Published in The New England journal of medicine (03.04.2008)
Get full text
Journal Article
Genome Sequencing for Diagnosing Rare Diseases
Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne
Published in The New England journal of medicine (06.06.2024)
Published in The New England journal of medicine (06.06.2024)
Get full text
Journal Article