Pesquisa | BVS Violência e Saúde

1.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.

Am J Hum Genet ; 109(10): 1867-1884, 2022 10 06.

Artigo em Inglês | MEDLINE | ID: mdl-36130591

2.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Sewani, Soha; Azamian, Mahshid S; Mendelsohn, Bryce A; Mau-Them, Frederic Tran; Réda, Manon; Nambot, Sophie; Isidor, Bertrand; van der Smagt, Jasper J; Shen, Joseph J; Shillington, Amelle; White, Lori; Elloumi, Houda Zghal; Baker, Peter R; Svihovec, Shayna; Brown, Kathleen; Koopman-Keemink, Yvonne; Hoffer, Mariette J V; Lakeman, Inge M M; Brischoux-Boucher, Elise; Kinali, Maria; Zhao, Xiaonan; Lalani, Seema R; Scott, Daryl A.

Am J Med Genet A ; 194(3): e63445, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-37872713

3.

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Niehaus, Annie D; Mendelsohn, Bryce A; Zimmerman, Bree; Lee, Chung U; Manning, Melanie A; Cusmano-Ozog, Kristina P; Tise, Christina G.

Am J Med Genet A ; 191(5): 1412-1417, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36863699

4.

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Tise, Christina G; Verscaj, Courtney P; Mendelsohn, Bryce A; Woods, Jeremy; Lee, Chung U; Enns, Gregory M; Stander, Zinandré; Hall, Patricia L; Cowan, Tina M; Cusmano-Ozog, Kristina P.

Am J Med Genet A ; 191(6): 1492-1501, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-36883293

5.

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Katler, Quinton S; Stepien, Karolina M; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T; Bosch, Annet M; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, Bryce A; Nichols, Brandi; de Rezende Pinto, Wladimir Bocca Vieira; Rocha, Júlio César; Rubio-Gozalbo, M Estela; Saad-Naguib, Michael; Scholl-Buergi, Sabine; Searcy, Sarah; de Souza, Paulo Victor Sgobbi; Wittenauer, Angela; Fridovich-Keil, Judith L.

J Inherit Metab Dis ; 45(6): 1106-1117, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-36093991

6.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L.

BMC Med ; 19(1): 199, 2021 08 18.

Artigo em Inglês | MEDLINE | ID: mdl-34404389

7.

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V A; Bruel, Ange-Line; Challman, Thomas D; Cogné, Benjamin; Coubes, Christine; de Man, Stella A; Denommé-Pichon, Anne-Sophie; Dye, Thomas J; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B; Haldeman-Englert, Chad R; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C E; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E; Leppig, Kathleen A; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A; Moghadasi, Setareh; Morton, Jenny E; Moutton, Sebastien; Müller, Amelie J; O'Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit.

Genet Med ; 23(5): 888-899, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33597769

8.

A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.

Mendelsohn, Bryce A; Bennett, Neal K; Darch, Maxwell A; Yu, Katharine; Nguyen, Mai K; Pucciarelli, Daniela; Nelson, Maxine; Horlbeck, Max A; Gilbert, Luke A; Hyun, William; Kampmann, Martin; Nakamura, Jean L; Nakamura, Ken.

PLoS Biol ; 16(8): e2004624, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-30148842

9.

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.

Gelfand, Jeffrey M; Greenfield, Ariele L; Barkovich, Matthew; Mendelsohn, Bryce A; Van Haren, Keith; Hess, Christopher P; Mannis, Gabriel N.

Brain ; 143(2): 503-511, 2020 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-31840744

10.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.

Mendelsohn, Bryce A; Beleford, Daniah T; Abu-El-Haija, Aya; Alsaleh, Norah S; Rahbeeni, Zuhair; Martin, Pierre-Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S; Slavotinek, Anne M.

Am J Med Genet A ; 182(3): 513-520, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31880405

11.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints, Suzanna G M; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H; Hunt, David; Mendelsohn, Bryce A; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernández-Jaén, Alberto; van Roozendaal, Kees; Stevens, Servi J C; Macville, Merryn V E; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M; McGregor, Lesley; Maas, Saskia M; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S; Engle, Elizabeth C; Houge, Gunnar; Gradek, Gyri A; Douglas, Andrew G L; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C; Hirata, Hiromi; Kalscheuer, Vera M.

Hum Mutat ; 40(12): 2270-2285, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31206972

12.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J.

Hum Mutat ; 40(7): 908-925, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30817854

13.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander P A; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter, Nicholas S; Winlaw, David S; Mendelsohn, Bryce A; Dalton, Joline; Sarafoglou, Kyriakie; Karachunski, Peter I; Lewis, Jane M; Pedro, Helio; Dunwoodie, Sally L; Selleri, Licia; Shieh, Joseph.

Hum Mol Genet ; 26(24): 4849-4860, 2017 12 15.

Artigo em Inglês | MEDLINE | ID: mdl-29036646

14.

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Punwani, Divya; Zhang, Yong; Yu, Jason; Cowan, Morton J; Rana, Sadhna; Kwan, Antonia; Adhikari, Aashish N; Lizama, Carlos O; Mendelsohn, Bryce A; Fahl, Shawn P; Chellappan, Ajithavalli; Srinivasan, Rajgopal; Brenner, Steven E; Wiest, David L; Puck, Jennifer M.

N Engl J Med ; 375(22): 2165-2176, 2016 12 01.

Artigo em Inglês | MEDLINE | ID: mdl-27959755

15.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Hirabayashi, Kristin E; Moore, Anthony T; Mendelsohn, Bryce A; Taft, Ryan J; Chawla, Aditi; Perry, Denise; Henry, Duncan; Slavotinek, Anne.

Am J Med Genet A ; 176(4): 997-1000, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29575628

16.

The role of mitochondrially derived ATP in synaptic vesicle recycling.

Pathak, Divya; Shields, Lauren Y; Mendelsohn, Bryce A; Haddad, Dominik; Lin, Wei; Gerencser, Akos A; Kim, Hwajin; Brand, Martin D; Edwards, Robert H; Nakamura, Ken.

J Biol Chem ; 290(37): 22325-36, 2015 Sep 11.

Artigo em Inglês | MEDLINE | ID: mdl-26126824

17.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L.

BMC Med ; 19(1): 288, 2021 Nov 03.

Artigo em Inglês | MEDLINE | ID: mdl-34732190

18.

Response to Biesecker.

Mendelsohn, Bryce A; Sabbadini, Marta.

Genet Med ; 21(3): 762, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30050100

19.

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Mendelsohn, Bryce A; Pronold, Melissa; Long, Roger; Smaoui, Nizar; Slavotinek, Anne M.

Am J Med Genet A ; 164A(8): 2079-83, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24818805

20.

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.

Grant, Nathan; Sohn, Young Bae; Ellinwood, N Matthew; Okenfuss, Ericka; Mendelsohn, Bryce A; Lynch, Leslie E; Braunlin, Elizabeth A; Harmatz, Paul R; Eisengart, Julie B.

Mol Genet Metab Rep ; 30: 100845, 2022 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-35242576

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