引用次数
引用: 3,788
H-指数: 33
I10-指数 : 46
出版物: 93
Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1
Ron Firestein , Phil Huie , Michael L. Cleary , Megan E Daly
Journal of Clinical Investigation 109 ( 9) 1165 -1172
59
2002
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
Jorge Román Corona-Rivera , Ana Karen Sandoval-Talamantes , Christian Peña-Padilla , Ivón Romero-Valenzuela
Neuromuscular Disorders 31 ( 5) 462 -465
2021
The histone H3K9M mutation synergizes with H3K14 ubiquitylation to selectively sequester histone H3K9 methyltransferase Clr4 at heterochromatin.
Gianni Liti , Feng Qiao , Liang Tong , Jiyong Wang
Cell Reports 35 ( 7) 109137
2021
Abstract PR01: Precision in Pediatric Sequencing (PIPseq): Clinical implementation of genomic sequencing into pediatric hematology-oncology practice
Carrie Koval , Wendy K. Chung , Stephen G. Emerson , Rebecca Zylber
Clinical Cancer Research 22
2016
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.
Badri N. Vardarajan , Giuseppe Tosto , Roger Lefort , Lei Yu
Neurology Genetics 3 ( 5)
5
2017
Blood group typing from whole-genome sequencing data
Julien Paganini , Peter L. Nagy , Nicholas Rouse , Philippe Gouret
PLOS ONE 15 ( 11)
2020
Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide
Spiro P. Pantazatos , Stuart J. Andrews , Jane Dunning-Broadbent , Jiuhong Pang
Neurobiology of Disease 79 123 -134
21
2015
C9ORF72 repeat expansions not detected in a group of patients with schizophrenia
Edward D. Huey , Peter L. Nagy , Laura Rodriguez-Murillo , Masood Manoochehri
Neurobiology of Aging 34 ( 4) 1309.e9 -1309.e10
32
2013
TNFRSF6 (Fas Antigen) Mutations in Patients with Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease).
Tracy I. George , Lisa Ma , Peter L. Nagy , Yasodha Natkunam
Blood 104 ( 11) 2389 -2389
3
2004
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster
Manjunath Nimmakayalu , Nathan Noble , V. Kim Horton , Marcia Willing
American Journal of Medical Genetics Part A 158 ( 11) 2767 -2774
4
2012
Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs
Catherine Do , Emmanuel L. P. Dumont , Martha Salas , Angelica Castano
Genome Biology 21 ( 1) 153
4
2020
Molecular Diagnosis of Hypercoagulable States
Peter L. Nagy , Iris Schrijver , James L. Zehnder
Labmedicine 35 ( 4) 214 -221
3
2004
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant
John C. Fyfe , Shelby L. Hemker , Alycia Frampton , Karthik Raj
BMC Veterinary Research 14 ( 1) 1 -10
4
2018
Formaldehyde-assisted isolation of regulatory elements.
Peter L. Nagy , David H. Price
Wiley Interdisciplinary Reviews: Systems Biology and Medicine 1 ( 3) 400 -406
8
2009
Brain-Derived Neurotrophic Factor Elevates Activating Transcription Factor 4 (ATF4) in Neurons and Promotes ATF4-Dependent Induction of Sesn2.
Jin Liu , Fatou Amar , Carlo Corona , Raphaella W. L. So
Frontiers in Molecular Neuroscience 11 62
16
2018
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
Niti Sardana Agarwal , Lesley Northrop , Kwame Anyane-Yeboa , Vimla S. Aggarwal
Journal of Clinical Immunology 34 ( 6) 607 -610
22
2014
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder
Yuexia Wang , Uta Lichter-Konecki , Kwame Anyane-Yeboa , Jessica E. Shaw
Journal of Cell Science 129 ( 10) 1975 -1980
36
2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Hemant Varma , Phyllis L. Faust , Alejandro D. Iglesias , Stephen M. Lagana
European Journal of Medical Genetics 59 ( 10) 540 -545
15
2016
Analysis of the ABCA4 genomic locus in Stargardt disease
Jana Zernant , Yajing (Angela) Xie , Carmen Ayuso , Rosa Riveiro-Alvarez
Human Molecular Genetics 23 ( 25) 6797 -6806
132
2014
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle
George Dialynas , Kaitlin M. Flannery , Luka N. Zirbel , Peter L. Nagy
Human Molecular Genetics 21 ( 7) 1544 -1556
31
2012
Andrew Kung Julia Glade Bender Richard Mayeux Stephen Emerson Wendy Chung Hynek Wichterle Diane B. Re Burcin Ikiz, Ph.D. John Yates Joachim Griesenbeck Ulrich Hengst John F. Crary Jimena Baleriola Carmen Ayuso Stephen H. Tsang Bo Yuan Philip M Boone, MD PhD Jason D. Lieb Badri Vardarajan Endre Neparáczki