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Items: 39

1.

Imaging the Whole Genome in Diagnosing Neurologic Disorders.

Mendelsohn BA.

JAMA Neurol. 2019 Oct 7. doi: 10.1001/jamaneurol.2019.3117. [Epub ahead of print] No abstract available.

PMID:
31589280
2.

Comparison of Analytical Methods for Antibody-Drug Conjugates Produced by Chemical Site-Specific Conjugation: First-Generation AJICAP.

Matsuda Y, Robles V, Malinao MC, Song J, Mendelsohn BA.

Anal Chem. 2019 Oct 15;91(20):12724-12732. doi: 10.1021/acs.analchem.9b02192. Epub 2019 Sep 3.

PMID:
31478640
3.

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

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
4.

AJICAP: Affinity Peptide Mediated Regiodivergent Functionalization of Native Antibodies.

Yamada K, Shikida N, Shimbo K, Ito Y, Khedri Z, Matsuda Y, Mendelsohn BA.

Angew Chem Int Ed Engl. 2019 Apr 16;58(17):5592-5597. doi: 10.1002/anie.201814215. Epub 2019 Mar 29.

PMID:
30854738
5.

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

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
6.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8.

7.

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

Mendelsohn BA, Bennett NK, Darch MA, Yu K, Nguyen MK, Pucciarelli D, Nelson M, Horlbeck MA, Gilbert LA, Hyun W, Kampmann M, Nakamura JL, Nakamura K.

PLoS Biol. 2018 Aug 27;16(8):e2004624. doi: 10.1371/journal.pbio.2004624. eCollection 2018 Aug.

8.

Cobalamin D Deficiency Identified Through Newborn Screening.

Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC.

JIMD Rep. 2019;44:73-77. doi: 10.1007/8904_2018_126. Epub 2018 Aug 11.

9.

Response to Biesecker.

Mendelsohn BA, Sabbadini M.

Genet Med. 2019 Mar;21(3):762. doi: 10.1038/s41436-018-0133-2. Epub 2018 Jul 27. No abstract available.

PMID:
30050100
10.

Synthesis and Evaluation of Linear and Macrocyclic Dolastatin 10 Analogues Containing Pyrrolidine Ring Modifications.

Akaiwa M, Martin T, Mendelsohn BA.

ACS Omega. 2018 May 31;3(5):5212-5221. doi: 10.1021/acsomega.8b00093. Epub 2018 May 15.

11.

Metabolism of an Oxime-Linked Antibody Drug Conjugate, AGS62P1, and Characterization of Its Identified Metabolite.

Snyder JT, Malinao MC, Dugal-Tessier J, Atkinson JE, Anand BS, Okada A, Mendelsohn BA.

Mol Pharm. 2018 Jun 4;15(6):2384-2390. doi: 10.1021/acs.molpharmaceut.8b00225. Epub 2018 May 14.

PMID:
29757653
12.

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

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A.

Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.

13.

Modulation of Macropinocytosis-Mediated Internalization Decreases Ocular Toxicity of Antibody-Drug Conjugates.

Zhao H, Atkinson J, Gulesserian S, Zeng Z, Nater J, Ou J, Yang P, Morrison K, Coleman J, Malik F, Challita-Eid P, Karki S, Aviña H, Hubert R, Capo L, Snyder J, Moon SJ, Luethy R, Mendelsohn BA, Stover DR, Doñate F.

Cancer Res. 2018 Apr 15;78(8):2115-2126. doi: 10.1158/0008-5472.CAN-17-3202. Epub 2018 Jan 30.

14.

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

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.

Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.

15.

Synthesis and Evaluation of Dolastatin 10 Analogues Containing Heteroatoms on the Amino Acid Side Chains.

Dugal-Tessier J, Barnscher SD, Kanai A, Mendelsohn BA.

J Nat Prod. 2017 Sep 22;80(9):2484-2491. doi: 10.1021/acs.jnatprod.7b00359. Epub 2017 Sep 8.

PMID:
28885014
16.

A Potential Mechanism for ADC-Induced Neutropenia: Role of Neutrophils in Their Own Demise.

Zhao H, Gulesserian S, Malinao MC, Ganesan SK, Song J, Chang MS, Williams MM, Zeng Z, Mattie M, Mendelsohn BA, Stover DR, Doñate F.

Mol Cancer Ther. 2017 Sep;16(9):1866-1876. doi: 10.1158/1535-7163.MCT-17-0133. Epub 2017 May 18.

17.

Investigation of Hydrophilic Auristatin Derivatives for Use in Antibody Drug Conjugates.

Mendelsohn BA, Barnscher SD, Snyder JT, An Z, Dodd JM, Dugal-Tessier J.

Bioconjug Chem. 2017 Feb 15;28(2):371-381. doi: 10.1021/acs.bioconjchem.6b00530. Epub 2017 Jan 6.

PMID:
28060485
18.

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM.

N Engl J Med. 2016 Dec 1;375(22):2165-2176.

19.

Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae.

Petty EL, Lafon A, Tomlinson SL, Mendelsohn BA, Pillus L.

Genetics. 2016 Aug;203(4):1693-707. doi: 10.1534/genetics.116.189506. Epub 2016 Jun 17.

20.

The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography.

Scott AI, Mendelsohn BA, Le A, Cowan TM.

Clin Chim Acta. 2016 May 1;456:149-150. doi: 10.1016/j.cca.2016.03.003. Epub 2016 Mar 4. No abstract available.

PMID:
26947969
21.

The role of mitochondrially derived ATP in synaptic vesicle recycling.

Pathak D, Shields LY, Mendelsohn BA, Haddad D, Lin W, Gerencser AA, Kim H, Brand MD, Edwards RH, Nakamura K.

J Biol Chem. 2015 Sep 11;290(37):22325-36. doi: 10.1074/jbc.M115.656405. Epub 2015 Jun 30.

22.

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO.

Clin Genet. 2015 Nov;88(5):468-73. doi: 10.1111/cge.12543. Epub 2015 Jan 6.

23.

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

Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM.

Am J Med Genet A. 2014 Aug;164A(8):2079-83. doi: 10.1002/ajmg.a.36590. Epub 2014 May 12.

PMID:
24818805
24.

Dental findings in 14q terminal deletion syndrome.

Mendelsohn BA, Jeng LL, Oberoi S, Klein OD.

Clin Dysmorphol. 2014 Apr;23(2):60-2. doi: 10.1097/MCD.0000000000000026. No abstract available.

PMID:
24535103
25.

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J.

JIMD Rep. 2014;13:37-41. doi: 10.1007/8904_2013_267. Epub 2013 Nov 5.

26.

A piece of my mind. What is natural?

Mendelsohn BA.

JAMA. 2013 May 1;309(17):1783-4. doi: 10.1001/jama.2012.205105. No abstract available.

PMID:
23632721
27.

Oxidation of α-oxo-oximes to nitrile oxides with hypervalent iodine reagents.

Jen T, Mendelsohn BA, Ciufolini MA.

J Org Chem. 2011 Jan 21;76(2):728-31. doi: 10.1021/jo102241s. Epub 2010 Dec 22.

PMID:
21175144
28.

Approach to tetrodotoxin via the oxidative amidation of a phenol.

Mendelsohn BA, Ciufolini MA.

Org Lett. 2009 Oct 15;11(20):4736-9. doi: 10.1021/ol901914u.

PMID:
19769386
29.

Oxidation of oximes to nitrile oxides with hypervalent iodine reagents.

Mendelsohn BA, Lee S, Kim S, Teyssier F, Aulakh VS, Ciufolini MA.

Org Lett. 2009 Apr 2;11(7):1539-42. doi: 10.1021/ol900194v.

PMID:
19254039
30.

Proteomic analysis of anoxia tolerance in the developing zebrafish embryo.

Mendelsohn BA, Malone JP, Townsend RR, Gitlin JD.

Comp Biochem Physiol Part D Genomics Proteomics. 2009 Mar;4(1):21-31. doi: 10.1016/j.cbd.2008.09.003. Epub 2008 Oct 17.

31.

The zebrafish embryo as a dynamic model of anoxia tolerance.

Mendelsohn BA, Kassebaum BL, Gitlin JD.

Dev Dyn. 2008 Jul;237(7):1780-8. doi: 10.1002/dvdy.21581.

32.

Coordination of development and metabolism in the pre-midblastula transition zebrafish embryo.

Mendelsohn BA, Gitlin JD.

Dev Dyn. 2008 Jul;237(7):1789-98. doi: 10.1002/dvdy.21584.

33.

In vivo correction of a Menkes disease model using antisense oligonucleotides.

Madsen EC, Morcos PA, Mendelsohn BA, Gitlin JD.

Proc Natl Acad Sci U S A. 2008 Mar 11;105(10):3909-14. doi: 10.1073/pnas.0710865105. Epub 2008 Mar 3.

34.

Essential role of lysyl oxidases in notochord development.

Gansner JM, Mendelsohn BA, Hultman KA, Johnson SL, Gitlin JD.

Dev Biol. 2007 Jul 15;307(2):202-13. Epub 2007 May 1.

35.

Atp7a determines a hierarchy of copper metabolism essential for notochord development.

Mendelsohn BA, Yin C, Johnson SL, Wilm TP, Solnica-Krezel L, Gitlin JD.

Cell Metab. 2006 Aug;4(2):155-62.

36.

Enhanced activity of monomethylauristatin F through monoclonal antibody delivery: effects of linker technology on efficacy and toxicity.

Doronina SO, Mendelsohn BA, Bovee TD, Cerveny CG, Alley SC, Meyer DL, Oflazoglu E, Toki BE, Sanderson RJ, Zabinski RF, Wahl AF, Senter PD.

Bioconjug Chem. 2006 Jan-Feb;17(1):114-24.

PMID:
16417259
37.

Novel antitumor prodrugs designed for activation by matrix metalloproteinases-2 and -9.

Kline T, Torgov MY, Mendelsohn BA, Cerveny CG, Senter PD.

Mol Pharm. 2004 Jan 12;1(1):9-22.

PMID:
15832497
38.

Genetic and biochemical interactions between SCP160 and EAP1 in yeast.

Mendelsohn BA, Li AM, Vargas CA, Riehman K, Watson A, Fridovich-Keil JL.

Nucleic Acids Res. 2003 Oct 15;31(20):5838-47.

39.

Development of potent monoclonal antibody auristatin conjugates for cancer therapy.

Doronina SO, Toki BE, Torgov MY, Mendelsohn BA, Cerveny CG, Chace DF, DeBlanc RL, Gearing RP, Bovee TD, Siegall CB, Francisco JA, Wahl AF, Meyer DL, Senter PD.

Nat Biotechnol. 2003 Jul;21(7):778-84. Epub 2003 Jun 1.

PMID:
12778055

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