Jagged1 (JAG1): Structure, Expression, and Disease Associations

Yazar: Grochowski, Christopher M., Loomes, Kathleen M., Spinner, Nancy B.
Yayımlandı Gene (2015)

Quantitative Assessment of Parental Somatic Mosaicism for CNV Deletions

Yazar: Liu, Qian, Grochowski, Christopher M., Bi, Weimin, Lupski, James R., Stankiewicz, Paweł
Yayımlandı Curr Protoc Hum Genet (2020)

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Yazar: Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.
Yayımlandı J Child Adolesc Psychopharmacol (2017)

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Yazar: Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.
Yayımlandı J Affect Disord (2018)

Exome Sequencing in Individuals with Isolated Biliary Atresia

Yazar: Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Yayımlandı Sci Rep (2020)

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

Yazar: Tsai, Ellen A., Grochowski, Christopher M., Falsey, Alexandra M., Rajagopalan, Ramakrishnan, Wendel, Danielle, Devoto, Marcella, Krantz, Ian D., Loomes, Kathleen M., Spinner, Nancy B.
Yayımlandı Hum Mutat (2015)

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

Yazar: Tsai, Ellen A., Grochowski, Christopher M., Loomes, Kathleen M., Bessho, Kazuhiko, Hakonarson, Hakon, Bezerra, Jorge A., Russo, Pierre A., Haber, Barbara A., Spinner, Nancy B., Devoto, Marcella
Baskı/Yayın Bilgisi 2013

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Yazar: Kelsen, Judith R., Dawany, Noor, Martinez, Alejuandro, Grochowski, Christopher M., Maurer, Kelly, Rappaport, Eric, Piccoli, David A., Baldassano, Robert N., Mamula, Petar, Sullivan, Kathleen E., Devoto, Marcella
Yayımlandı BMC Gastroenterol (2015)

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Yazar: Kelsen, Judith R., Dawany, Noor, Martinez, Alejandro, Grochowski, Christopher M., Maurer, Kelly, Rappaport, Eric, Piccoli, David A., Baldassano, Robert N., Mamula, Petar, Sullivan, Kathleen E., Devoto, Marcella
Yayımlandı BMC Gastroenterol (2015)

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Yazar: Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R., Hijazi, Hadia, Grochowski, Christopher M., Gu, Shen, Seeman, Pavel, Woodward, Karen J., Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Yayımlandı Genome Med (2019)

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Yazar: Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L., Lupski, James R., Carvalho, Claudia M.B.
Yayımlandı Hum Mutat (2018)

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Yazar: Chen, Ying, Gilbert, Melissa A., Grochowski, Christopher M., McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E., Russo, Pierre, Wells, Rebecca G., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Yayımlandı PLoS Genet (2018)

Parental somatic mosaicism for CNV deletions – a need for more sensitive and precise detection methods in clinical diagnostics settings

Yazar: Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Wilson, Theresa A., Rosenfeld, Jill A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Breman, Amy, Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Bi, Weimin, Stankiewicz, Pawel
Yayımlandı Genomics (2020)

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

Yazar: Tsai, Ellen A., Gilbert, Melissa A., Grochowski, Christopher M., Underkoffler, Lara A., Meng, He, Zhang, Xiaojie, Wang, Michael M., Shitaye, Hailu, Hankenson, Kurt D., Piccoli, David, Lin, Henry, Kamath, Binita M., Devoto, Marcella, Spinner, Nancy B., Loomes, Kathleen M.
Yayımlandı Cell Mol Gastroenterol Hepatol (2016)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Yazar: Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Yayımlandı Hum Mutat (2019)

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Yazar: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna
Yayımlandı Hum Mutat (2020)

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Yazar: Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Akdemir, Zeynep H. Coban, Wilson, Theresa A., Jhangiani, Shalini N., Chen, Ed, Eng, Christine M., Muzny, Donna, Posey, Jennifer E., Yang, Yaping, Zhang, David Y., Shaw, Chad, Liu, Pengfei, Lupski, James R., Stankiewicz, Paweł
Yayımlandı Genet Med (2020)

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Yazar: Coban-Akdemir, Zeynep H., Charng, Wu-Lin, Azamian, Mahshid, Paine, Ingrid Sophie, Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago, Cannon, Bryan, Zapata, Gladys, Hernandez, Patricia P., Jhangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Boricha, Fatima, Muzny, Donna M., Boerwinkle, Eric, Yang, Yaping, Gibbs, Richard A., Posey, Jennifer E., Wehrens, Xander H.T., Belmont, John W., Kim, Jeffrey J., Miyake, Christina Y., Lupski, James R., Lalani, Seema R.
Yayımlandı Am J Med Genet A (2020)

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Yazar: Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N, Madan-Khetarpal, Suneeta, Scott, Daryl A., Abarca-Barriga, Hugo, Trubnykova, Milana, Gingras, Marie-Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard
Yayımlandı Hum Mutat (2020)

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Yazar: Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Yayımlandı Am J Hum Genet (2020)