Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S; Anikster, Yair; Saltiel, Alan R; Distelmaier, Felix.

Am J Hum Genet ; 106(2): 246-255, 2020 02 06.

Artigo em Inglês | MEDLINE | ID: mdl-32004447

2.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L; Allen, William; Angione, Kaitlin M; Bonati, Maria T; Brasington, Campbell; Cho, Megan T; Demmer, Laurie A; Falik-Zaccai, Tzipora; Gamble, Candace N; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N; Smith-Hicks, Constance; Stegmann, Alexander P A; Stöbe, Petra; Stumpel, Constance T R M; Wilson, Carolyn; Lemke, Johannes R; Di Donato, Nataliya; Miller, Kenneth G; Jamra, Rami.

Am J Hum Genet ; 104(2): 203-212, 2019 02 07.

Artigo em Inglês | MEDLINE | ID: mdl-30612693

3.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam, Kandamurugu; McClain, Monica R; Demmer, Laurie A; Biswas, Sawona; Kearney, Hutton M; Malinowski, Jennifer; Massingham, Lauren J; Miller, Danny; Yu, Timothy W; Hisama, Fuki M.

Genet Med ; 23(11): 2029-2037, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34211152

4.

Professional medical education and genomics.

Demmer, Laurie A; Waggoner, Darrel J.

Annu Rev Genomics Hum Genet ; 15: 507-16, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24635717

5.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric.

Hum Mutat ; 37(7): 653-60, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-26931382

6.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Goldlust, Ian S; Hermetz, Karen E; Catalano, Lisa M; Barfield, Richard T; Cozad, Rebecca; Wynn, Grace; Ozdemir, Alev Cagla; Conneely, Karen N; Mulle, Jennifer G; Dharamrup, Shikha; Hegde, Madhuri R; Kim, Katherine H; Angle, Brad; Colley, Alison; Webb, Amy E; Thorland, Erik C; Ellison, Jay W; Rosenfeld, Jill A; Ballif, Blake C; Shaffer, Lisa G; Demmer, Laurie A; Rudd, M Katharine.

Proc Natl Acad Sci U S A ; 110(37): 14990-4, 2013 Sep 10.

Artigo em Inglês | MEDLINE | ID: mdl-23980137

7.

Surveying the current landscape of clinical genetics residency training.

Bupp, Caleb P; Demmer, Laurie A; Saul, Robert A.

Genet Med ; 17(5): 386-90, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25232852

8.

A description of spina bifida cases and co-occurring malformations, 1976-2011.

Parker, Samantha E; Yazdy, Mahsa M; Mitchell, Allen A; Demmer, Laurie A; Werler, Martha M.

Am J Med Genet A ; 164A(2): 432-40, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24357196

9.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Moreno-De-Luca, Daniel; Mulle, Jennifer G; Kaminsky, Erin B; Sanders, Stephan J; Myers, Scott M; Adam, Margaret P; Pakula, Amy T; Eisenhauer, Nancy J; Uhas, Kim; Weik, LuAnn; Guy, Lisa; Care, Melanie E; Morel, Chantal F; Boni, Charlotte; Salbert, Bonnie Anne; Chandrareddy, Ashadeep; Demmer, Laurie A; Chow, Eva W C; Surti, Urvashi; Aradhya, Swaroop; Pickering, Diane L; Golden, Denae M; Sanger, Warren G; Aston, Emily; Brothman, Arthur R; Gliem, Troy J; Thorland, Erik C; Ackley, Todd; Iyer, Ram; Huang, Shuwen; Barber, John C; Crolla, John A; Warren, Stephen T; Martin, Christa L; Ledbetter, David H.

Am J Hum Genet ; 87(5): 618-30, 2010 Nov 12.

Artigo em Inglês | MEDLINE | ID: mdl-21055719

10.

Keratoconus in Costello syndrome.

Gripp, Karen W; Demmer, Laurie A.

Am J Med Genet A ; 161A(5): 1132-6, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23494969

11.

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

Korf, Bruce R; Blitzer, Miriam G; Demmer, Laurie A; Feldman, Gerald L; Watson, Michael S.

Genet Med ; 19(9)2017 09.

Artigo em Inglês | MEDLINE | ID: mdl-28640242

12.

Maternal tea consumption during early pregnancy and the risk of spina bifida.

Yazdy, Mahsa M; Tinker, Sarah C; Mitchell, Allen A; Demmer, Laurie A; Werler, Martha M.

Birth Defects Res A Clin Mol Teratol ; 94(10): 756-61, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22641606

13.

Lessons learned from the introduction of personalized genotyping into a medical school curriculum.

Walt, David R; Kuhlik, Amy; Epstein, Scott K; Demmer, Laurie A; Knight, Meredith; Chelmow, David; Rosenblatt, Michael; Bianchi, Diana W.

Genet Med ; 13(1): 63-6, 2011 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21057320

14.

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

Sol-Church, Katia; Stabley, Deborah L; Demmer, Laurie A; Agbulos, Abigail; Lin, Angela E; Smoot, Leslie; Nicholson, Linda; Gripp, Karen W.

Am J Med Genet A ; 149A(3): 315-21, 2009 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19206176

15.

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Lin, Angela E; O'Brien, Barbara; Demmer, Laurie A; Almeda, Kristina K; Blanco, Cynthia L; Glasow, Patrick F; Berul, Charles I; Hamilton, Robert; Micheil Innes, A; Lauzon, Julie L; Sol-Church, Katia; Gripp, Karen W.

Prenat Diagn ; 29(7): 682-90, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19382114

16.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend, Eric G; Aref-Eshghi, Erfan; Everman, David B; Rogers, R Curtis; Cathey, Sara S; Prijoles, Eloise J; Lyons, Michael J; Davis, Heather; Clarkson, Katie; Gripp, Karen W; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine; Mark, Paul; Hakonarson, Hakon; Demmer, Laurie A; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Rodenhiser, David; Friez, Michael J; Stevenson, Roger E; Schwartz, Charles E; Sadikovic, Bekim.

Clin Epigenetics ; 11(1): 64, 2019 04 27.

Artigo em Inglês | MEDLINE | ID: mdl-31029150

17.

Clinical genetic testing for patients with autism spectrum disorders.

Shen, Yiping; Dies, Kira A; Holm, Ingrid A; Bridgemohan, Carolyn; Sobeih, Magdi M; Caronna, Elizabeth B; Miller, Karen J; Frazier, Jean A; Silverstein, Iris; Picker, Jonathan; Weissman, Laura; Raffalli, Peter; Jeste, Shafali; Demmer, Laurie A; Peters, Heather K; Brewster, Stephanie J; Kowalczyk, Sara J; Rosen-Sheidley, Beth; McGowan, Caroline; Duda, Andrew W; Lincoln, Sharyn A; Lowe, Kathryn R; Schonwald, Alison; Robbins, Michael; Hisama, Fuki; Wolff, Robert; Becker, Ronald; Nasir, Ramzi; Urion, David K; Milunsky, Jeff M; Rappaport, Leonard; Gusella, James F; Walsh, Christopher A; Wu, Bai-Lin; Miller, David T.

Pediatrics ; 125(4): e727-35, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20231187

18.

The etiology of thyroid dysgenesis-still an enigma after all these years.

Brown, Rosalind S; Demmer, Laurie A.

J Clin Endocrinol Metab ; 87(9): 4069-71, 2002 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-12213847

19.

The natural history of trisomy 12p.

Segel, Reeval; Peter, Inga; Demmer, Laurie A; Cowan, Janet M; Hoffman, Jodi D; Bianchi, Diana W.

Am J Med Genet A ; 140(7): 695-703, 2006 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-16502429

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