Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4 von Nicholson, Garth, Lenk, Guy M., Reddel, Stephen W., Grant, Adrienne E., Towne, Charles F., Ferguson, Cole J., Simpson, Ericka, Scheuerle, Angela, Yasick, Michelle, Hoffman, Stuart, Blouin, Randall, Brandt, Carla, Coppola, Giovanni, Biesecker, Leslie G., Batish, Sat D., Meisler, Miriam H.

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Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group von Ali, Abdullah Mahmood, Kirby, Michelle, Jansen, Michael, Lach, Francis P., Schulte, Jennifer, Singh, Thiyam Ramsing, Batish, Sat D., Auerbach, Arleen D., Williams, David A., Meetei, Amom Ruhikanta

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The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy von DiVincenzo, Christina, Elzinga, Christopher D., Medeiros, Adam C., Karbassi, Izabela, Jones, Jeremiah R., Evans, Matthew C., Braastad, Corey D., Bishop, Crystal M., Jaremko, Malgorzata, Wang, Zhenyuan, Liaquat, Khalida, Hoffman, Carol A., York, Michelle D., Batish, Sat D., Lupski, James R., Higgins, Joseph J.

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Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia von Milone, Margherita, Batish, Sat D., Daube, Jasper R.

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Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease von Garcia-Gonzalez, Miguel A., Jones, Jeffrey G., Allen, Susan K., Palatucci, Christopher M., Batish, Sat D., Seltzer, William K., Lan, Zheng, Allen, Erica, Qian, Feng, Lens, Xose M., Pei, York, Germino, Gregory G., Watnick, Terry J.

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Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study von Levran, Orna, Diotti, Raffaella, Pujara, Kanan, Batish, Sat D., Hanenberg, Helmut, Auerbach, Arleen D.

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Severe Dilated Cardiomyopathy in a Patient With Myotonic Dystrophy Type 2 and Homozygous Repeat Expansion in ZNF9 von Lee, Teresa M., Maurer, Mathew S., Karbassi, Izabela, Braastad, Corey, Batish, Sat D., Chung, Wendy K.

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Polycystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene: A Case Report and Revie... von Jehaimi, Cayce T., Araiza, Virginia C., Batish, Sat D., Brosnan, Patrick G.

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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P sub(2) phosphatase FIG4 von Nicholson, Garth, Lenk, Guy M, Reddel, Stephen W, Grant, Adrienne E, Towne, Charles F, Ferguson, Cole J, Simpson, Ericka, Scheuerle, Angela, Yasick, Michelle, Hoffman, Stuart, Blouin, Randall, Brandt, Carla, Coppola, Giovanni, Biesecker, Leslie G, Batish, Sat D, Meisler, Miriam H

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Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2) von BATISH SAT D, NAGAN NARASIMHAN, ALLEN SUSAN, BRAASTAD COREY D, ZHU HUI, SELTZER WILLIAM K, JONES JEFFREY G

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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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Technical standards and guidelines for spinal muscular atrophy testing von Prior, Thomas W., Nagan, Narasimhan, Sugarman, Elaine A., De Batish, Sat v., Braastad, Corey

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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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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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Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia von Offit, Kenneth, Levran, Orna, Mullaney, Brian, Mah, Katherine, Nafa, Khedoudja, Batish, Sat Dev, Diotti, Raffaella, Schneider, Hildegard, Deffenbaugh, Amie, Scholl, Thomas, Proud, Virginia K., Robson, Mark, Norton, Larry, Ellis, Nathan, Hanenberg, Helmut, Auerbach, Arleen D.

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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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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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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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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 Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders von 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.

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