引用次数
引用: 6,788
H-指数: 45
I10-指数 : 97
出版物: 370
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia‐Gibbs Syndrome
Fabio Stossi , George Weissenberger , Jianhong Hu , Qingchang Meng
Human Mutation 42 ( 5) 577 -591
1
2021
A Genocentric Approach to Discovery of Mendelian Disorders
Adam W Hansen , Mullai Murugan , He Li , Michael M Khayat
American Journal of Human Genetics 105 ( 5) 974 -986
14
2019
AHDC1 missense mutations in Xia-Gibbs syndrome
Michael M Khayat , Jianhong Hu , Yunyun Jiang , He Li
Human Genetics and Genomics Advances 2 ( 4)
8
2021
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Shinya Yamamoto , Manish Jaiswal , Wu-Lin Charng , Tomasz Gambin
Cell 159 ( 1) 200 -214
360
2014
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
Fan Xia , Matthew N Bainbridge , Tiong Yang Tan , Michael F Wangler
American Journal of Human Genetics 94 ( 5) 784 -789
80
2014
7 Evidence For and Against
Michael R DeBaun , Aimee S Chang , Michael Wangle , Kelle H Moley
Epigenetic Risks of Cloning 97 -97
2005
Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.
Xi Luo , Kelly Schoch , Sharayu V Jangam , Venkata Hemanjani Bhavana
Human Molecular Genetics
12
2021
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Beattie RH Sturrock , Ellen F Macnamara , Peter McGuire , Shannon Kruk
Molecular Genetics & Genomic Medicine
2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Hugo J Bellen , Monte Westerfield10 ,
Orphanet Journal of Rare Diseases 16 ( 1) 206 -206
2021
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
Michael F Wangler , Leroy Hubert , Taraka R Donti , Meredith J Ventura
Genetics in Medicine 20 ( 10) 1274 -1283
14
2018
The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.
Hugo J Bellen , Michael F Wangler , Shinya Yamamoto ,
Human Molecular Genetics 28
22
2019
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu , Kelly Schoch , Xi Luo , Loren DM Pena
Human Molecular Genetics 27 ( 14) 2454 -2465
50
2018
Drosophila as a Model for Human Diseases
Paul C Marcogliese , Michael F Wangler
American Cancer Society 1 -10
3
2018
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Paul C Marcogliese , Samantha L Deal , Jonathan Andrews , J Michael Harnish
bioRxiv
2021
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E Schneeberger , Fanny Kortüm , Georg Christoph Korenke , Malik Alawi
Brain 143 ( 8) 2437 -2453
2
2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
Debdeep Dutta , Lauren C Briere , Oguz Kanca , Paul C Marcogliese
Human Molecular Genetics 29 ( 9) 1568 -1579
6
2020
The expanding neurological phenotype of DNM1L-related disorders.
Michael F Wangler , Nurit Assia Batzir , Laurie A Robak , Mary K Koenig
Brain 141 ( 4)
6
2018
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
Lillian R Thistlethwaite , Xiqi Li , Lindsay C Burrage , Kevin Riehle
Scientific reports 12 ( 1) 6556
6
2022
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman , Heidi Cope , Zelha Nil , Thomas A Ravenscroft
The American Journal of Human Genetics 108 ( 9) 1669 -1691
12
2021
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models
Joshua Manor , Hyunglok Chung , Pranjali K Bhagwat , Michael F Wangler
Journal of neuroscience research 99 ( 12) 3170 -3181
5
2021
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