The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia von Levran, Orna, Milton, Kelly L, Henry, Rashida T, Neveling, Kornelia, Ott, Jurg, Attwooll, Claire, Rio, Paula, Schindler, Detlev, Petrini, John, Batish, Sat Dev, Auerbach, Arleen D, Velleuer, Eunike, Kalb, Reinhard, Barral, Sandra, Hanenberg, Helmut

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Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer von BERWICK, Marianne, SATAGOPAN, Jaya M, DEV BATISH, Sat, MORALES, José, SCHINDLER, Detlev, HANENBERG, Helmut, HROMAS, Robert, LEVRAN, Orna, AUERBACH, Arleen D, BEN-PORAT, Leah, CARLSON, Ann, MAH, Katherine, HENRY, Rashida, DIOTTI, Raffaella, MILTON, Kelly, PUJARA, Kanan, LANDERS, Tom

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans von Lupski, James R, Zhang, Feng, Khajavi, Mehrdad, Connolly, Anne M, Towne, Charles F, Batish, Sat Dev

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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer von Seal, Sheila, Barker, Karen, Ariffin, Hany, Rahman, Nazneen, Hanks, Sandra, Hanenberg, Helmut, Reid, Sarah, Freund, Marcel, Kelly, Patrick, Auerbach, Arleen D, Wurm, Melanie, Tischkowitz, Marc, Batish, Sat Dev, Mathew, Christopher G, Yetgin, Sevgi, Neveling, Kornelia, Lach, Francis P, Schindler, Detlev, Kalb, Reinhard, Neitzel, Heidemarie

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The spectrum of SCNIA-related infantile epileptic encephalopathies von HARKIN, Louise A, MCMAHON, Jacinta M, CONNOLLY, Mary, STANLEY, Thorsten, HARBORD, Michael, ANDERMANN, Frederick, JING WANG, DEV BATISH, Sat, JONES, Jeffrey G, SELTZER, William K, GARDNER, Alison, SUTHERLAND, Grant, IONA, Xenia, BERKOVIC, Samuel F, MULLEY, John C, SCHEFFER, Ingrid E, DIBBENS, Leanne, PELEKANOS, James T, ZUBERI, Sameer M, SADLEIR, Lynette G, ANDERMANN, Eva, GILL, Deepak, FARRELL, Kevin

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

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR) von Kutler, David I., Singh, Bhuvanesh, Satagopan, Jaya, Batish, Sat Dev, Berwick, Marianne, Giampietro, Philip F., Hanenberg, Helmut, Auerbach, Arleen D.

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P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older? von Powis, Zoe, Liaquat, Khalida, Meservey, Marc, Louie, Judy, Batish, Sat Dev

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

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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease von Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.

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Somatic Mosaicism in Fanconi Anemia: Evidence of Genotypic Reversion in Lymphohematopoietic Stem Cells von Gregory, John J., Wagner, John E., Verlander, Peter C., Levran, Orna, Batish, Sat Dev, Eide, Cindy R., Steffenhagen, Amy, Hirsch, Betsy, Auerbach, Arleen D.

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A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients von Chandra, Saurabh, Levran, Orna, Jurickova, Ingrid, Maas, Chiel, Kapur, Rick, Schindler, Detlev, Henry, Rashida, Milton, Kelly, Batish, Sat Dev, Cancelas, Jose A, Hanenberg, Helmut, Auerbach, Arleen D, Williams, David A

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Novel MPZ mutations and congenital hypomyelinating neuropathy von McMillan, Hugh J, Santagata, Sandro, Shapiro, Frederic, Batish, Sat Dev, Couchon, Libby, Donnelly, Stephen, Kang, Peter B

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Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitis von Phillips, Oliver, Tubre, Teddi, Lorenco, Hillary, Batish, Sat Dev, Brown, William

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Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases von Powis, Zöe, Lutz, Jonathon, Liaquat, Khalida, Querubin, Jyes A, Batish, Sat Dev

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eP387: Genetic testing for spinocerebellar ataxias in pediatric patients von Powis, Zoe, Meservey, Marc, Liaquat, Khalida, Partack, Emily, Batish, Sat Dev

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Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1,045 specimens tested at a clinical reference laboratory (4606) von Batish, Sat Dev, Datta, Vivekananda, Radcliff, Jeff S., Katzman, Emily, Sansoucy, Brian

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Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory (4638) von Batish, Sat Dev, Lebron, Lebron, Meservey, Marc A., Radcliff, Jeff S., Wang, Zhenyuan, Datta, Vivekananda

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HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory (2376) von Batish, Sat Dev, Meservey, Marc, Haji-Sheikhi, Farnoosh, Nedzweckas, Elise, Wang, Zhenyuan, Datta, Vivekananda, Mullen, Thomas, Radcliff, Jeff

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Cerebrospinal fluid AΒ42, total tau, and phosphorylated tau in the evaluation of Alzheimer’s dementia: Experience from a commercial reference laboratory von Batish, Sat Dev, Haji‐Sheikhi, Farnoosh, Kare, Amogh, Datta, Vivekananda, Meservey, Marc, Radcliff, Jeff

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