Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 2 |
2011 | 1 |
2013 | 1 |
2015 | 1 |
2019 | 2 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.
Genet Med. 2019.
PMID: 30679821
Free PMC article.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.
Karolak JA, et al. Among authors: pfotenhauer jp.
Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.
Am J Hum Genet. 2019.
PMID: 30639323
Free PMC article.
Item in Clipboard
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS, Becker JR, Su YR, Mosley JD, Weeke P, D'Aoust L, Ausborn NL, Ramirez AH, Pfotenhauer JP, Naftilan AJ, Markham L, Exil V, Roden DM, Hong CC.
Wells QS, et al. Among authors: pfotenhauer jp.
Circ Cardiovasc Genet. 2013 Aug;6(4):317-26. doi: 10.1161/CIRCGENETICS.113.000011. Epub 2013 Jul 16.
Circ Cardiovasc Genet. 2013.
PMID: 23861363
Free PMC article.
Item in Clipboard
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR.
Hao YH, et al. Among authors: pfotenhauer jp.
Mol Cell. 2015 Sep 17;59(6):956-69. doi: 10.1016/j.molcel.2015.07.033. Epub 2015 Sep 10.
Mol Cell. 2015.
PMID: 26365382
Free PMC article.
Item in Clipboard
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, Disalvo TD, Hong CC.
Wells QS, et al. Among authors: pfotenhauer jp.
Cardiogenetics. 2011 Aug 22;1(1):e10. doi: 10.4081/cardiogenetics.2011.e10.
Cardiogenetics. 2011.
PMID: 24062880
Free PMC article.
Item in Clipboard
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.
Ballif BC, et al. Among authors: pfotenhauer jp.
Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4.
Am J Hum Genet. 2010.
PMID: 20206336
Free PMC article.
Item in Clipboard
Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.
Harris B, Pfotenhauer JP, Silverstein CA, Markham LW, Schafer K, Exil VJ, Hong CC.
Harris B, et al. Among authors: pfotenhauer jp.
Cardiol Res Pract. 2010;2010:697269. doi: 10.4061/2010/697269. Epub 2010 Mar 11.
Cardiol Res Pract. 2010.
PMID: 20309391
Free PMC article.
Item in Clipboard
Cite
Cite