A RaDiCAL gene hunt

por Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S.
Publicado 2017

Improvement in the Histochemical Localization of Leucine Aminopeptidase with a New Substrate, L-Leucyl-4-Methoxy-2-Naphthylamide

por Nachlas, Marvin M., Monis, Benito, Rosenblatt, David, Seligman, Arnold M.
Publicado 1960

Vitamin B(12) Metabolism during Pregnancy and in Embryonic Mouse Models

por Moreno-Garcia, Maira A., Rosenblatt, David S., Jerome-Majewska, Loydie A.
Publicado 2013

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

por Field, Martha S, Kamynina, Elena, Watkins, David, Rosenblatt, David S, Stover, Patrick J
Publicado 2015

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

por Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
Publicado 2014

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

por Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Publicado 2016

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

por Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.
Publicado 2016

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

por Mah, Wayne, Sonkusare, Swapnil K, Wang, Tracy, Azeddine, Bouziane, Pupavac, Mihaela, Carrot-Zhang, Jian, Hong, Kwangseok, Majewski, Jacek, Harvey, Edward J, Russell, Laura, Chalk, Colin, Rosenblatt, David S, Nelson, Mark T, Séguin, Chantal
Publicado 2016

ARHGDIA: a novel gene implicated in nephrotic syndrome

por Gupta, Indra Rani, Baldwin, Cindy, Auguste, David, Ha, Kevin C H, El Andalousi, Jasmine, Fahiminiya, Somayyeh, Bitzan, Martin, Bernard, Chantal, Akbari, Mohammad Reza, Narod, Steven A, Rosenblatt, David S, Majewski, Jacek, Takano, Tomoko
Publicado 2013

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

por Stockler, Sylvia, Corvera, Silvia, Lambright, David, Fogarty, Kevin, Nosova, Ekaterina, Leonard, Deborah, Steinfeld, Robert, Ackerley, Cameron, Shyr, Casper, Au, Nicolas, Selby, Kathrin, van Allen, Margot, Vallance, Hilary, Wevers, Ron, Watkins, David, Rosenblatt, David, Ross, Colin J, Conibear, Elizabeth, Wasserman, Wyeth, van Karnebeek, Clara
Publicado 2014

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

por Chern, Tiffany, Achilleos, Annita, Tong, Xuefei, Hill, Matthew C., Saltzman, Alexander B., Reineke, Lucas C., Chaudhury, Arindam, Dasgupta, Swapan K., Redhead, Yushi, Watkins, David, Neilson, Joel R., Thiagarajan, Perumal, Green, Jeremy B. A., Malovannaya, Anna, Martin, James F., Rosenblatt, David S., Poché, Ross A.
Publicado 2022

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12)

por Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy K., Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David S., Guéant, Jean-Louis
Publicado 2022

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

por Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.
Publicado 2018

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

por Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.
Publicado 2018