Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura.

Am J Hum Genet ; 110(6): 963-978, 2023 06 01.

Artigo em Inglês | MEDLINE | ID: mdl-37196654

2.

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

Bier, Caide; Dickey, Kaelin; Bibb, Brittan; Crutcher, Angela; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Davis-Keppen, Laura; Matthes, Cindy; Tharp, Michelle; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Lah, Melissa; McNutt, Markey; Andersson, Hans C.

Mol Genet Metab ; 141(3): 108152, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38367583

3.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane.

Am J Hum Genet ; 107(3): 544-554, 2020 09 03.

Artigo em Inglês | MEDLINE | ID: mdl-32730804

4.

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.

Sajan, Samin A; Brown, Carolyn M; Davis-Keppen, Laura; Burns, Kaitlyn; Royer, Erin; Coleman, Jessica A Cooley; Hilton, Benjamin A; DuPont, Barbara R; Perry, Denise L; Taft, Ryan J; Kesari, Akanchha.

Am J Med Genet A ; 191(12): 2831-2836, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-37551848

5.

Individual with Homozygous TECR Variant Expands Upon the Existing Phenotype for a Hutterite Founder Mutation.

Platt, Dylan; Davis-Keppen, Laura.

S D Med ; 75(4): 150-153, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-35709344

6.

The State of Newborn Screening in South Dakota.

Boyd, Jada; Stein, Quinn; Davis-Keppen, Laura.

S D Med ; 75(11): 509-512, 2022 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-36893029

7.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan, Fadi F; Myers, Candace T; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T; Rosenfeld, Jill A; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E; Thomas, Rhys H; Shelagh, Joss; Hurst, Jane A; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K; Dorison, Sara J; Benke, Paul J; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T; Bruel, Ange-Line; Verloes, Alain; Õunap, Katrin; Wojcik, Monica H.

Am J Hum Genet ; 101(5): 664-685, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100083

8.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F.

Genet Med ; 22(5): 878-888, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-31949314

9.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F.

Genet Med ; 22(4): 822, 2020 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-32047287

10.

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno.

Am J Hum Genet ; 96(2): 295-300, 2015 Feb 05.

Artigo em Inglês | MEDLINE | ID: mdl-25620207

11.

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

Stein, Quinn P; Vockley, Cate Walsh; Edick, Mathew J; Zhai, Shaohui; Hiner, Sally J; Loman, Rebecca S; Davis-Keppen, Laura; Zuck, Taylor A; Cameron, Cynthia A; Berry, Susan A.

J Genet Couns ; 26(6): 1238-1243, 2017 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-28451876

12.

Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.

Reed, Jennifer A; Crotwell, Patricia L; Stein, Quinn; Mroch, Amy; Davis-Keppen, Laura; Khan, Akram.

S D Med ; 70(11): 505-509, 2017 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-29088522

13.

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Somsen, David; Davis-Keppen, Laura; Crotwell, Patricia; Flanagan, Jason; Munson, Patrick; Stein, Quinn.

Am J Med Genet A ; 164A(5): 1268-71, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24478262

14.

Identification of a founder mutation for maple syrup urine disease in Hutterites.

Mroch, Amelia; Davis-Keppen, Laura; Matthes, Cindy; Stein, Quinn.

S D Med ; 67(4): 141-3, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24791375

15.

Early Hearing Loss Detection and Intervention in South Dakota.

Awoyinka, Katherine; Messersmith, Jessica J; Davis-Keppen, Laura.

S D Med ; 70(1): 16-20, 2017 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-28810097

16.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Patrick, Ryan J; Weimer, Jill; Davis-Keppen, Laura; Landsverk, Megan L.

Cold Spring Harb Mol Case Stud ; 8(2)2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34921061

17.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

Slavotinek, Anne; van Hagen, Johanna M; Kalsner, Louisa; Pai, Shashidhar; Davis-Keppen, Laura; Ohden, Lisa; Weber, Yvonne G; Macke, Erica L; Klee, Eric W; Morava, Eva; Gunderson, Lauren; Person, Richard; Liu, Shuxi; Weiss, Marjan.

Eur J Med Genet ; 63(4): 103850, 2020 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-31954878

18.

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.

Kruer, Michael C; Jepperson, Tyler N; Weimer, Jill M; Mroch, Amy; Davis-Keppen, Laura; Crotwell, Patricia; Parboosingh, Jillian.

Mov Disord ; 28(13): 1904-5, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-23813796

19.

Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.

Reindl, Bailey A; Lynch, Douglas W; Ramirez, Michael; Valbracht, Marcia; Davis-Keppen, Laura; Tams, Kimberlee C; Groeneveld, Sarah.

Pediatrics ; 130(5): e1363-8, 2012 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-23071203

20.

Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern.

Stein, Quinn P; Boyle, Jeffrey G; Crotwell, Patricia L; Flanagan, Jason D; Johnson, Kiley J; Davis-Keppen, Laura; Van Eerden, Peter; Woltanski, Amelia R; Watson, William J.

Prenat Diagn ; 28(12): 1169-70, 2008 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19003786

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