引用次数
引用: 6,788
H-指数: 45
I10-指数 : 97
出版物: 370
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Meredith J. Ventura , Dianna Wheaton , Mingchu Xu , David Birch
Molecular genetics and metabolism reports 9 75 -78
20
2016
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey
Carlos A. Bacino , Yu-Hsin Chao , Elaine Seto , Tim Lotze
Molecular Genetics and Metabolism Reports 5 15 -18
12
2015
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K Eldomery , Zeynep Coban-Akdemir , Tamar Harel , Jill A Rosenfeld
Genome Medicine 9 ( 1) 26 -26
110
2017
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Michael F Wangler , Claudia Gonzaga-Jauregui , Tomasz Gambin , Samantha Penney
PLOS Genetics 10 ( 3) 1004258
80
2014
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia.
Jidong Liu , Guolian Ding , Kexin Zou , Ziru Jiang
Molecular Genetics & Genomic Medicine 8 ( 3)
1
2020
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
Sei-Gyung K. Sze , Howard M. Lederman , Thomas O. Crawford , Michael F. Wangler
Journal of Pediatric Hematology Oncology 43 ( 1)
1
2021
An SCN1B Variant Found in a Child Diagnosed with Epilepsy and Brugada Syndrome Modifies Brain-Type (Na V 1.1) and Cardiac-Type (Na V 1.5) Sodium Currents
Rebecca Martinez-Moreno , Helena Riuró , Elisabeth Selga , Michael F. Wangler
Biophysical Journal 114 ( 3)
2018
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Stuart W. Tompson , Carlos A. Bacino , Nicole P. Safina , Michael B. Bober
American Journal of Human Genetics 87 ( 5) 708 -712
50
2010
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Nancy E. Braverman , Gerald V. Raymond , William B. Rizzo , Ann B. Moser
Molecular Genetics and Metabolism 117 ( 3) 313 -321
190
2016
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng , Mohan Pammi , Anirudh Saronwala , Pilar Magoulas
JAMA Pediatrics 171 ( 12)
337
2017
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
Nurit Assia Batzir , Pranjali Kishor Bhagwat , Austin Larson , Zeynep Coban Akdemir
Human Mutation 41 ( 3) 641 -654
8
2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Magdalena Koczkowska , Tom Callens , Yunjia Chen , Alicia Gomes
Human Mutation 41 ( 1) 299 -315
85
2020
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Brett V Johnson , Raman Kumar , Sabrina Oishi , Suzy Alexander
Biological Psychiatry 87 ( 2) 100 -112
36
2020
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.
Michael F. Wangler , Yu-Hsin Chao , Vafa Bayat , Nikolaos Giagtzoglou
PLOS Genetics 13 ( 6)
19
2017
Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth.
Jevon Plunkett , Mary F. Feitosa , Michelle Trusgnich , Michael F. Wangler
Human Heredity 68 ( 3) 209 -219
81
2009
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish , Tahsin Stefan Barakat , Brittany C Michel , Nazar Mashtalir
American Journal of Human Genetics 107 ( 6) 1096 -1112
1
2020
Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.
Aimee S. Chang , Kelle H. Moley , Michael Wangler , Andrew P. Feinberg
Fertility and Sterility 83 ( 2) 349 -354
193
2005
Peroxisomes Are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster
Joseph E. Faust , Arvind Manisundaram , Pavlina T. Ivanova , Stephen B. Milne
PLoS ONE 9 ( 6) e100213
29
2014
498: Placental pathology findings in cases of familial spontaneous preterm birth
Emily Defranco , Tammy Shen , Michael Wangler , Zachary Kistka
American Journal of Obstetrics and Gynecology 201 ( 6) S186
2009
A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for MARS2.
Hugo Bellen , Michael Wangler , Vafa Bayat
Human Mutation 36 ( 6)
2015
Hugo Bellen SHINYA YAMAMOTO James Lupski Fan Xia Jennifer Posey Andrew P. Feinberg Taraka R. Donti Sarah H. Elsea Richard O Jones James McNew John Postlethwait Dustin Baldridge, MD, PhD Philip Hieter Joseph Faust Nele A Haelterman Sonal Nagarkar-Jaiswal zeynep coban akdemir Nagireddy Putluri Jeffrey Neul