GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Por Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Publicado no Neurogenetics (2010)

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Por Zhang, Feng, Khajavi, Mehrdad, Connolly, Anne M, Towne, Charles F, Batish, Sat Dev, Lupski, James R
Publicado no Nat Genet (2009)

Sequence variation in the Fanconi anemia gene FAA

Por Levran, Orna, Erlich, Tamar, Magdalena, Neiva, Gregory, John J., Batish, Sat Dev, Verlander, Peter C., Auerbach, Arleen D.
Publicado em 1997

Novel MPZ mutations and congenital hypomyelinating neuropathy

Por McMillan, Hugh J., Santagata, Sandro, Shapiro, Frederic, Batish, Sat Dev, Couchon, Libby, Donnelly, Stephen, Kang, Peter B.
Publicado em 2010

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Por Boone, Philip M., Liu, Pengfei, Zhang, Feng, Carvalho, Claudia M. B., Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Publicado em 2011

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Por Majidi, Shideh, Fouts, Alexandra, Pyle, Laura, Chambers, Christina, Armstrong, Taylor, Wang, Zhenyuan, Batish, Sat Dev, Klingensmith, Georgeanna, Steck, Andrea K.
Publicado no Diabetes Technol Ther (2018)

Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells

Por Gregory, John J., Wagner, John E., Verlander, Peter C., Levran, Orna, Batish, Sat Dev, Eide, Cindy R., Steffenhagen, Amy, Hirsch, Betsy, Auerbach, Arleen D.
Publicado em 2001

Characteristics of maturity onset diabetes of the young in a large diabetes center

Por Chambers, Christina, Fouts, Alexandra, Dong, Fran, Colclough, Kevin, Wang, Zhenyuan, Batish, Sat Dev, Jaremko, Malgorzata, Ellard, Sian, Hattersley, Andrew T, Klingensmith, Georgeanna, Steck, Andrea K
Publicado no Pediatr Diabetes (2015)

Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer

Por Berwick, Marianne, Satagopan, Jaya M., Ben-Porat, Leah, Carlson, Ann, Mah, Katherine, Henry, Rashida, Diotti, Raffaella, Milton, Kelly, Pujara, Kanan, Landers, Tom, Batish, Sat Dev, Morales, José, Schindler, Detlev, Hanenberg, Helmut, Hromas, Robert, Levran, Orna, Auerbach, Arleen D.
Publicado em 2007

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Por Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Publicado em 2010

High-throughput mutational analysis of TOR1A in primary dystonia

Por Xiao, Jianfeng, Bastian, Robert W, Perlmutter, Joel S, Racette, Brad A, Tabbal, Samer D, Karimi, Morvarid, Paniello, Randal C, Blitzer, Andrew, Batish, Sat Dev, Wszolek, Zbigniew K, Uitti, Ryan J, Hedera, Peter, Simon, David K, Tarsy, Daniel, Truong, Daniel D, Frei, Karen P, Pfeiffer, Ronald F, Gong, Suzhen, Zhao, Yu, LeDoux, Mark S
Publicado em 2009

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Por Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Berwick, Marianne, Callén, Elsa, Surrallés, Jordi, Casado, José A., Bueren, Juan, Dasí, Ángeles, Soulier, Jean, Gluckman, Eliane, Zwaan, C. Michel, van Spaendonk, Rosalina, Pals, Gerard, de Winter, Johan P., Joenje, Hans, Grompe, Markus, Auerbach, Arleen D., Hanenberg, Helmut, Schindler, Detlev
Publicado em 2007

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Por Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.
Publicado em 2014

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Por Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller‐Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Publicado no Hum Mutat (2015)

The Alzheimer’s Association external quality control program for cerebrospinal fluid biomarkers

Por Mattsson, Niklas, Andreasson, Ulf, Persson, Staffan, Arai, Hiroyuki, Batish, Sat Dev, Bernardini, Sergio, Bocchio-Chiavetto, Luisella, Blankenstein, Marinus A., Carrillo, Maria C., Chalbot, Sonia, Coart, Els, Chiasserini, Davide, Cutler, Neal, Dahlfors, Gunilla, Duller, Stefan, Fagan, Anne M., Forlenza, Orestes, Frisoni, Giovanni B., Galasko, Douglas, Galimberti, Daniela, Hampel, Harald, Handberg, Aase, Heneka, Michael T., Herskovits, Adrianna Z., Herukka, Sanna-Kaisa, Holtzman, David M., Humpel, Christian, Hyman, Bradley T., Iqbal, Khalid, Jucker, Mathias, Kaeser, Stephan A., Kaiser, Elmar, Kapaki, Elisabeth, Kidd, Daniel, Klivenyi, Peter, Knudsen, Cindy S., Kummer, Markus P., Lui, James, Lladó, Albert, Lewczuk, Piotr, Li, Qiao-Xin, Martins, Ralph, Masters, Colin, McAuliffe, John, Mercken, Marc, Moghekar, Abhay, Molinuevo, José Luis, Montine, Thomas J., Nowatzke, William, O’Brien, Richard, Otto, Markus, Paraskevas, George P., Parnetti, Lucilla, Petersen, Ronald C., Prvulovic, David, de Reus, Herman P. M., Rissman, Robert A., Scarpini, Elio, Stefani, Alessandro, Soininen, Hilkka, Schröder, Johannes, Shaw, Leslie M., Skinningsrud, Anders, Skrogstad, Brith, Spreer, Annette, Talib, Leda, Teunissen, Charlotte, Trojanowski, John Q., Tumani, Hayrettin, Umek, Robert M., Van Broeck, Bianca, Vanderstichele, Hugo, Vecsei, Laszlo, Verbeek, Marcel M., Windisch, Manfred, Zhang, Jing, Zetterberg, Henrik, Blennow, Kaj
Publicado em 2011