Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.

Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul.

Am J Hum Genet ; 110(5): 846-862, 2023 05 04.

Artigo em Inglês | MEDLINE | ID: mdl-37086723

2.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Singh, Amrita K; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y; Shohfi, John P; Duy, Phan Q; DeSpenza, Tyrone; Furey, Charuta G; Reeves, Benjamin C; Smith, Hannah; Sousa, André M M; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R A; Alper, Seth L; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K; Lifton, Richard P; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T.

Brain ; 147(4): 1553-1570, 2024 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-38128548

3.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Pierpont, Elizabeth I; Bennett, Anton M; Schoyer, Lisa; Stronach, Beth; Anschutz, April; Borrie, Sarah C; Briggs, Benjamin; Burkitt-Wright, Emma; Castel, Pau; Cirstea, Ion C; Draaisma, Fieke; Ellis, Michelle; Fear, Vanessa S; Frone, Megan N; Flex, Elisabetta; Gelb, Bruce D; Green, Tamar; Gripp, Karen W; Khoshkhoo, Sattar; Kieran, Mark W; Kleemann, Karolin; Klein-Tasman, Bonita P; Kontaridis, Maria I; Kruszka, Paul; Leoni, Chiara; Liu, Clifford Z; Merchant, Nadia; Magoulas, Pilar L; Moertel, Christopher; Prada, Carlos E; Rauen, Katherine A; Roelofs, Renée; Rossignol, Rodrigue; Sevilla, Christine; Sevilla, Gigi; Sheedy, Ryan; Stieglitz, Elliot; Sun, Daochun; Tiemens, Dagmar; White, Forest; Wingbermühle, Ellen; Wolf, Cordula; Zenker, Martin; Andelfinger, Gregor.

Am J Med Genet A ; 194(4): e63477, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37969032

4.

Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations.

Kruszka, Paul; Tekendo-Ngongang, Cedrik.

Am J Med Genet C Semin Med Genet ; 193(3): e32059, 2023 09.

Artigo em Inglês | MEDLINE | ID: mdl-37534870

5.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Hughes, Joel J; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C; Grange, Dorothy K; Berger, Seth I; Payne, Katelyn K; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R; Clegg, Nancy J; Everson, Joshua L; Martinez, Ariel F; Walsh, Laurence E; Bedoukian, Emma; Jones, Marilyn C; Harris, Catharine Jean; Riedhammer, Korbinian M; Choukair, Daniela; Fechner, Patricia Y; Rutter, Meilan M; Hufnagel, Sophia B; Roifman, Maian; Kletter, Gad B; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J; Vezina, Chad M; Muenke, Maximilian; Chitayat, David.

Am J Hum Genet ; 106(1): 121-128, 2020 01 02.

Artigo em Inglês | MEDLINE | ID: mdl-31883643

6.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika.

Am J Hum Genet ; 107(1): 164-172, 2020 07 02.

Artigo em Inglês | MEDLINE | ID: mdl-32553196

7.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle.

Genet Med ; 25(12): 100947, 2023 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-37534744

8.

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Ekure, Ekanem N; Sokunbi, Ogochukwu; Kruszka, Paul; Muenke, Maximilian; Adeyemo, Adebowale A.

Am J Med Genet A ; 191(1): 271-274, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36301051

9.

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.

Ekure, Ekanem N; Musa, Kareem O; Ulonnam, Ngozi; Kruszka, Paul; Muenke, Maximilian; Adeyemo, Adebowale A.

Am J Med Genet A ; 191(9): 2411-2415, 2023 09.

Artigo em Inglês | MEDLINE | ID: mdl-37313780

10.

Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism.

Gupta, Sarthak; Nakabo, Shuichiro; Blanco, Luz P; O'Neil, Liam J; Wigerblad, Gustaf; Goel, Rishi R; Mistry, Pragnesh; Jiang, Kan; Carmona-Rivera, Carmelo; Chan, Diana W; Wang, Xinghao; Pedersen, Hege L; Gadkari, Manasi; Howe, Katherine N; Naz, Faiza; Dell'Orso, Stefania; Hasni, Sarfaraz A; Dempsey, Caeden; Buscetta, Ashley; Frischmeyer-Guerrerio, Pamela A; Kruszka, Paul; Muenke, Maximilian; Franco, Luis M; Sun, Hong-Wei; Kaplan, Mariana J.

Proc Natl Acad Sci U S A ; 117(28): 16481-16491, 2020 07 14.

Artigo em Inglês | MEDLINE | ID: mdl-32601182

11.

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka, Paul; Berger, Seth I; Weiss, Karin; Everson, Joshua L; Martinez, Ariel F; Hong, Sungkook; Anyane-Yeboa, Kwame; Lipinski, Robert J; Muenke, Maximilian.

Am J Hum Genet ; 104(5): 990-993, 2019 05 02.

Artigo em Inglês | MEDLINE | ID: mdl-31006510

12.

Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.

Roberts, Maegan E; Nimrichter, Sarah; Marshall, Megan L; Flynn, Elizabeth K; Person, Rick; Hruska, Kathleen S; Kruszka, Paul; Juusola, Jane.

Am J Med Genet A ; 188(10): 3121-3125, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-35860951

13.

Novel insights in Turner syndrome.

Aly, Jasmine; Kruszka, Paul.

Curr Opin Pediatr ; 34(4): 447-460, 2022 08 01.

Artigo em Inglês | MEDLINE | ID: mdl-35796656

14.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Skoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R.

Genet Med ; 23(10): 1952-1960, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34113005

15.

Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.

Lawrence, Anne K; Whitehead, Matthew T; Kruszka, Paul; Sanapo, Laura; Yano, Sho; Tanpaiboon, Pranoot; Muenke, Maximilian; Fraser, Jamie L; du Plessis, Adre J.

Prenat Diagn ; 41(6): 778-790, 2021 May.

Artigo em Inglês | MEDLINE | ID: mdl-33522008

16.

The state of congenital heart disease.

Kruszka, Paul; Beaton, Andrea.

Am J Med Genet C Semin Med Genet ; 184(1): 5-6, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-32083375

17.

The genetic workup for structural congenital heart disease.

Jerves, Teodoro; Beaton, Andrea; Kruszka, Paul.

Am J Med Genet C Semin Med Genet ; 184(1): 178-186, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31833661

18.

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.

Tekendo-Ngongang, Cedrik; Owosela, Babajide; Muenke, Maximilian; Kruszka, Paul.

Am J Med Genet C Semin Med Genet ; 184(1): 154-158, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-32022405

19.

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.

Brough, Joe; Jain, Mahim; Jerves, Teodoro; Kruszka, Paul; McGuffey, Elizabeth.

Am J Med Genet C Semin Med Genet ; 184(1): 124-128, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-32030882

20.

Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.

Ekure, Ekanem N; Sokunbi, Ogochukwu; Kalu, Nnenna; Olusegun-Joseph, Akinsanya; Kushimo, Oyewole; Amadi, Casmir; Hassan, Olayinka; Ikebudu, Desmond; Onyia, Sophia; Onwudiwe, Chinonso; Nwankwo, Victor; Akinwunmi, Remi; Awusa, Fukpode; Akere, Zainab; Dele-Salawu, Olaolu; Ajayi, Elizabeth; Ale, Olagoke; Muoneke, Dorothy; Muenke, Maximillian; Kruszka, Paul; Beaton, Andrea; Sable, Craig; Adeyemo, Adebowale.

Am J Med Genet C Semin Med Genet ; 184(1): 47-52, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-32052942

BVS Doenças Infecciosas e Parasitárias

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar: