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Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
Published in:
2020
By:
- Gelfand, Jeffrey M;
- Greenfield, Ariele L;
- Barkovich, Matthew;
- Mendelsohn, Bryce A;
- Haren, Keith Van;
- Hess, Christopher P;
- Mannis, Gabriel N;
- Van Haren, Keith
Publication type:
journal article
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63445
By:
- 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
Publication type:
Article
MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1492, doi. 10.1002/ajmg.a.63159
By:
- 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.
Publication type:
Article
Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1412, doi. 10.1002/ajmg.a.63144
By:
- Niehaus, Annie D.;
- Mendelsohn, Bryce A.;
- Zimmerman, Bree;
- Lee, Chung U.;
- Manning, Melanie A.;
- Cusmano‐Ozog, Kristina P.;
- Tise, Christina G.
Publication type:
Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
By:
- 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.
Publication type:
Article
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 997, doi. 10.1002/ajmg.a.38637
By:
- Hirabayashi, Kristin E.;
- Moore, Anthony T.;
- Mendelsohn, Bryce A.;
- Taft, Ryan J.;
- Chawla, Aditi;
- Perry, Denise;
- Henry, Duncan;
- Slavotinek, Anne
Publication type:
Article
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3075, doi. 10.1002/ajmg.a.38382
By:
- Eppley, Sarah;
- Hopkin, Robert J.;
- Mendelsohn, Bryce;
- Slavotinek, Anne M.
Publication type:
Article
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A ( MLL).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2079, doi. 10.1002/ajmg.a.36590
By:
- Mendelsohn, Bryce A.;
- Pronold, Melissa;
- Long, Roger;
- Smaoui, Nizar;
- Slavotinek, Anne M.
Publication type:
Article
A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.
Published in:
PLoS Biology, 2018, v. 16, n. 8, p. 1, doi. 10.1371/journal.pbio.2004624
By:
- 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
Publication type:
Article
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
2023
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Correction Notice
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Article
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
By:
- Slavotinek, Anne;
- Rego, Shannon;
- Sahin-Hodoglugil, Nuriye;
- Kvale, Mark;
- Lianoglou, Billie;
- Yip, Tiffany;
- Hoban, Hannah;
- Outram, Simon;
- Anguiano, Beatrice;
- Chen, Flavia;
- Michelson, Jeremy;
- Cilio, Roberta M.;
- Curry, Cynthia;
- Gallagher, Renata C.;
- Gardner, Marisa;
- Kuperman, Rachel;
- Mendelsohn, Bryce;
- Sherr, Elliott;
- Shieh, Joseph;
- Strober, Jonathan
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
2021
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Correction Notice
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Imaging the Whole Genome in Diagnosing Neurologic Disorders.
Published in:
2019
By:
- Mendelsohn, Bryce A.
Publication type:
Opinion
Genetic and biochemical interactions between SCP160 and EAP1 in yeast.
Published in:
Nucleic Acids Research, 2003, v. 31, n. 20, p. 5838, doi. 10.1093/nar/gkg810
By:
- Mendelsohn, Bryce A.;
- Li, Ai‐min;
- Vargas, Claudia A.;
- Riehman, Kristen;
- Watson, Alice;
- Fridovich‐Keil, Judith L.
Publication type:
Article
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1106, doi. 10.1002/jimd.12556
By:
- 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
Publication type:
Article
Coordination of development and metabolism in the pre-midblastula transition zebrafish embryo.
Published in:
Developmental Dynamics, 2008, v. 237, n. 7, p. 1789, doi. 10.1002/dvdy.21584
By:
- Mendelsohn, Bryce A.;
- Gitlin, Jonathan D.
Publication type:
Article
The zebrafish embryo as a dynamic model of anoxia tolerance.
Published in:
Developmental Dynamics, 2008, v. 237, n. 7, p. 1780, doi. 10.1002/dvdy.21581
By:
- Mendelsohn, Bryce A.;
- Kassebaum, Bethany L.;
- Gitlin, Jonathan D.
Publication type:
Article
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 24, p. 4849, doi. 10.1093/hmg/ddx363
By:
- 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
Publication type:
Article
Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae.
Published in:
Genetics, 2016, v. 203, n. 4, p. 1693, doi. 10.1534/genetics.116.189506
By:
- Petty, Emily L.;
- Lafon, Anne;
- Tomlinson, Shannon L.;
- Mendelsohn, Bryce A.;
- Pillus, Lorraine
Publication type:
Article
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2270, doi. 10.1002/humu.23841
By:
- 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;
- Roozendaal, Kees;
- Stevens, Servi J.C.;
- Macville, Merryn V.E.;
- Al‐Nasiry, Salwan;
- Gassen, Koen;
- Utzig, Norbert
Publication type:
Article
A piece of my mind. What is natural?
Published in:
2013
By:
- Mendelsohn, Bryce A
Publication type:
journal article
What Is Natural?
Published in:
JAMA: Journal of the American Medical Association, 2013, v. 309, n. 17, p. 1783, doi. 10.1001/jama.2012.205105
By:
- Mendelsohn, Bryce A.
Publication type:
Article
Defining the ATPome reveals cross-optimization of metabolic pathways.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18084-6
By:
- Bennett, Neal K.;
- Nguyen, Mai K.;
- Darch, Maxwell A.;
- Nakaoka, Hiroki J.;
- Cousineau, Derek;
- ten Hoeve, Johanna;
- Graeber, Thomas G.;
- Schuelke, Markus;
- Maltepe, Emin;
- Kampmann, Martin;
- Mendelsohn, Bryce A.;
- Nakamura, Jean L.;
- Nakamura, Ken
Publication type:
Article

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