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1

Dental findings in 14q terminal deletion syndrome

Mendelsohn, Bryce A., Jeng, Linda L.B., Oberoi, Snehlata, Klein, Ophir D.

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 267 KB

english, 2014

2

The Role of Mitochondrially Derived ATP in Synaptic Vesicle Recycling

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

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 8.54 MB

english, 2015

3

The zebrafish embryo as a dynamic model of anoxia tolerance

Bryce A. Mendelsohn, Bethany L. Kassebaum, Jonathan D. Gitlin

Journal:

Developmental Dynamics

Year:

2008

Language:

english

File:

PDF, 616 KB

english, 2008

4

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

Bryce A. Mendelsohn, Jonathan D. Gitlin

Journal:

Developmental Dynamics

Year:

2008

Language:

english

File:

PDF, 1.25 MB

english, 2008

5

Proteomic analysis of anoxia tolerance in the developing zebrafish embryo

Bryce A. Mendelsohn, James P. Malone, R. Reid Townsend, Jonathan D. Gitlin

Journal:

Comparative Biochemistry and Physiology Part D: Genomics and Proteomics

Year:

2009

Language:

english

File:

PDF, 863 KB

english, 2009

6

Atp7a determines a hierarchy of copper metabolism essential for notochord development

Bryce A. Mendelsohn, Chunyue Yin, Stephen L. Johnson, Thomas P. Wilm, Lilianna Solnica-Krezel, Jonathan D. Gitlin

Journal:

Cell Metabolism

Year:

2006

Language:

english

File:

PDF, 459 KB

english, 2006

7

Essential role of lysyl oxidases in notochord development

John M. Gansner, Bryce A. Mendelsohn, Keith A. Hultman, Stephen L. Johnson, Jonathan D. Gitlin

Journal:

Developmental Biology

Year:

2007

Language:

english

File:

PDF, 2.11 MB

english, 2007

8

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 334 KB

english, 2014

9

What Is Natural?

Mendelsohn, Bryce A.

Journal:

JAMA The Journal of the American Medical Association

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

10

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

Scott, Anna I., Mendelsohn, Bryce A., Le, Anthony, Cowan, Tina M.

Journal:

Clinica Chimica Acta

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

11

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, Srinivasa

Journal:

New England Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 655 KB

english, 2016

12

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae

Eppley, Sarah, Hopkin, Robert J., Mendelsohn, Bryce, Slavotinek, Anne M.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 670 KB

english, 2017

13

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

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 466 KB

english, 2018

14

Response to Biesecker

Mendelsohn, Bryce A., Sabbadini, Marta

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 157 KB

english, 2018

15

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, Nak

Journal:

Year:

2018

Language:

english

File:

PDF, 8.28 MB

english, 2018

16

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, M

Journal:

Year:

2019

Language:

english

File:

PDF, 506 KB

english, 2019

17

Imaging the Whole Genome in Diagnosing Neurologic Disorders

Mendelsohn, Bryce A.

Journal:

Year:

2019

Language:

english

File:

PDF, 45 KB

english, 2019

18

Imaging the Whole Genome in Diagnosing Neurologic Disorders

Mendelsohn, Bryce A.

Journal:

Year:

2019

File:

PDF, 45 KB

2019

19

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, Je

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 2.92 MB

english, 2019

20

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

Journal:

Year:

2019

File:

PDF, 535 KB

2019

21

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, Je

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 2.92 MB

2019

22

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy

Hawer, Harmen, Mendelsohn, Bryce A., Mayer, Klaus, Kung, Ann, Malhotra, Amit, Tuupanen, Sari, Schleit, Jennifer, Brinkmann, Ulrich, Schaffrath, Raffael

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.88 MB

2020

23

Defining the ATPome reveals cross-optimization of metabolic pathways

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

Journal:

Nature Communications

Year:

2020

File:

PDF, 2.40 MB

2020