Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

A cross-disorder dosage sensitivity map of the human genome.

Collins, Ryan L; Glessner, Joseph T; Porcu, Eleonora; Lepamets, Maarja; Brandon, Rhonda; Lauricella, Christopher; Han, Lide; Morley, Theodore; Niestroj, Lisa-Marie; Ulirsch, Jacob; Everett, Selin; Howrigan, Daniel P; Boone, Philip M; Fu, Jack; Karczewski, Konrad J; Kellaris, Georgios; Lowther, Chelsea; Lucente, Diane; Mohajeri, Kiana; Nõukas, Margit; Nuttle, Xander; Samocha, Kaitlin E; Trinh, Mi; Ullah, Farid; Võsa, Urmo; Hurles, Matthew E; Aradhya, Swaroop; Davis, Erica E; Finucane, Hilary; Gusella, James F; Janze, Aura; Katsanis, Nicholas; Matyakhina, Ludmila; Neale, Benjamin M; Sanders, David; Warren, Stephanie; Hodge, Jennelle C; Lal, Dennis; Ruderfer, Douglas M; Meck, Jeanne; Mägi, Reedik; Esko, Tõnu; Reymond, Alexandre; Kutalik, Zoltán; Hakonarson, Hakon; Sunyaev, Shamil; Brand, Harrison; Talkowski, Michael E.

Cell ; 185(16): 3041-3055.e25, 2022 08 04.

Artigo em Inglês | MEDLINE | ID: mdl-35917817

2.

Uniparental disomy in a population of 32,067 clinical exome trios.

Scuffins, Julie; Keller-Ramey, Jennifer; Dyer, Lindsay; Douglas, Ganka; Torene, Rebecca; Gainullin, Vladimir; Juusola, Jane; Meck, Jeanne; Retterer, Kyle.

Genet Med ; 23(6): 1101-1107, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-33495530

3.

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

Brandt, Tracy; Sack, Laura M; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J H; Ankala, Arunkanth; Del Gaudio, Daniela; Knight Johnson, Amy; Vincent, Lisa M; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M.

Genet Med ; 22(2): 336-344, 2020 02.

Artigo em Inglês | MEDLINE | ID: mdl-31534211

4.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Brandt, Tracy; Sack, Laura M; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J H; Ankala, Arunkanth; Del Gaudio, Daniela; Johnson, Amy Knight; Vincent, Lisa M; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M.

Genet Med ; 22(3): 670-671, 2020 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-31844178

5.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Riggs, Erin R; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D; Collinson, Morag N; Fan, Yao-Shan; Goodenberger, McKinsey L; Golden, Denae M; Haglund-Hazy, Linda; Krgovic, Danijela; Lamb, Allen N; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld-Kaiser, Whitney; Runke, Cassandra K; Sanmann, Jennifer N; Stavropoulos, Dimitri J; Strong, Emma; Su, Meng; Tayeh, Marwan K; Kokalj Vokac, Nadja; Thorland, Erik C; Andersen, Erica; Martin, Christa L.

Hum Mutat ; 39(11): 1650-1659, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30095202

6.

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).

Cherry, Athena M; Akkari, Yassmine M; Barr, Kimberly M; Kearney, Hutton M; Rose, Nancy C; South, Sarah T; Tepperberg, James H; Meck, Jeanne M.

Genet Med ; 19(8): 845-850, 2017 08.

Artigo em Inglês | MEDLINE | ID: mdl-28726804

7.

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

Retterer, Kyle; Scuffins, Julie; Schmidt, Daniel; Lewis, Rachel; Pineda-Alvarez, Daniel; Stafford, Amanda; Schmidt, Lindsay; Warren, Stephanie; Gibellini, Federica; Kondakova, Anastasia; Blair, Amanda; Bale, Sherri; Matyakhina, Ludmila; Meck, Jeanne; Aradhya, Swaroop; Haverfield, Eden.

Genet Med ; 17(8): 623-9, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-25356966

8.

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

Meck, Jeanne M; Kramer Dugan, Elizabeth; Matyakhina, Ludmila; Aviram, Ayala; Trunca, Carolyn; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Klein, Rachel T; Cherry, Athena M.

Am J Obstet Gynecol ; 213(2): 214.e1-5, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-25843063

9.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Reddy, Kavita S; Aradhya, Swaroop; Meck, Jeanne; Tiller, George; Abboy, Sridevi; Bass, Harold.

Genet Med ; 15(1): 3-13, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22935720

10.

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

Khalifa, Mohamed; Stein, Jennifer; Grau, Lance; Nelson, Valery; Meck, Jeanne; Aradhya, Swaroop; Duby, John.

Am J Med Genet A ; 161A(4): 835-40, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23494856

11.

Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor.

Zeng, Weifen; Meck, Jeanne; Cheson, Bruce D; Ozdemirli, Metin.

J Cutan Pathol ; 38(12): 999-1003, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21883369

12.

Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line.

Jiang, Weidong; Wang, Xin Wei; Unger, Tamar; Forgues, Marshonna; Kim, Jin Woo; Hussain, S Perwez; Bowman, Elise; Spillare, Elisa A; Lipsky, Michael M; Meck, Jeanne M; Cavalli, Luciane R; Haddad, Bassem R; Harris, Curtis C.

Int J Cancer ; 127(5): 1011-20, 2010 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-20017137

13.

Holoprosencephaly due to numeric chromosome abnormalities.

Solomon, Benjamin D; Rosenbaum, Kenneth N; Meck, Jeanne M; Muenke, Maximilian.

Am J Med Genet C Semin Med Genet ; 154C(1): 146-8, 2010 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-20104610

14.

Reply: To PMID 25843063.

Meck, Jeanne M; Cherry, Athena M.

Am J Obstet Gynecol ; 213(4): 596, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26070704

15.

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

Herriges, John C; Brown, Sara; Longhurst, Maria; Ozmore, Jillian; Moeschler, John B; Janze, Aura; Meck, Jeanne; South, Sarah T; Andersen, Erica F.

Eur J Med Genet ; 62(1): 9-14, 2019 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-29698806

16.

Statement on guidance for genetic counseling in advanced paternal age.

Toriello, Helga V; Meck, Jeanne M.

Genet Med ; 10(6): 457-60, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18496227

17.

Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Zafer, Emre; Meck, Jeanne; Gerrad, Liora; Pras, Elon; Frydman, Moshe; Reish, Orit; Avni, Isaac; Pras, Eran.

Mol Vis ; 14: 530-2, 2008 Mar 14.

Artigo em Inglês | MEDLINE | ID: mdl-18385787

18.

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Brooks, Brian P; Meck, Jeanne M; Haddad, Bassem R; Bendavid, Claude; Blain, Delphine; Toretsky, Jeffrey A.

BMC Med Genet ; 7: 2, 2006 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-16412230

19.

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.

Dennis, Thomas R; Raptoulis, Gina N; Stalker, Heather J; Boles, Debra; Meck, Jeanne M; Krasnewich, Donna M; Schiffmann, Raphael; Zori, Roberto T.

Am J Med Genet A ; 149A(2): 262-5, 2009 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-19133694

20.

Cytogenetic abnormalities in attention-deficit/hyperactivity disorder.

Bastain, Theresa M; Lewczyk, Caroline M; Sharp, Wendy S; James, Regina S; Long, Robert T; Eagen, Patricia B; Ebens, Christen L; Meck, Jeanne M; Chan, Wai-Yee; Sidransky, Ellen; Rapoport, Judith L; Castellanos, F Xavier.

J Am Acad Child Adolesc Psychiatry ; 41(7): 806-10, 2002 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12108805

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