Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

por Kaufmann, Walter E., Stallworth, Jennifer L., Everman, David B., Skinner, Steven A.
Publicado 2016

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

por Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M
Publicado 2007

The FU gene and its possible protein isoforms

por Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, Zaphiropoulos, Peter G, Toftgård, Rune
Publicado 2004

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe ampl...

por Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin
Publicado 2017

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

por Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.
Publicado 2018

Coding exons function as tissue-specific enhancers of nearby genes

por Birnbaum, Ramon Y., Clowney, E. Josephine, Agamy, Orly, Kim, Mee J., Zhao, Jingjing, Yamanaka, Takayuki, Pappalardo, Zachary, Clarke, Shoa L., Wenger, Aaron M., Nguyen, Loan, Gurrieri, Fiorella, Everman, David B., Schwartz, Charles E., Birk, Ohad S., Bejerano, Gill, Lomvardas, Stavros, Ahituv, Nadav
Publicado 2012

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

por Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.
Publicado 2017

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

por Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Publicado 2019

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

por Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.
Publicado 2018