引用次数
引用: 6,788
H-指数: 45
I10-指数 : 97
出版物: 370
Intrafamilial Variation of Symptom Severity in Collagen VI (COL 6) Myopathy
SM Dicarlo , TE Lotze , AM Adesina , MF Wangler
ANNALS OF NEUROLOGY 72 S217 -S218
2012
An Unusual Case of Acromegaloidism Due to Beckwith-Wiedemann Syndrome Diagnosed as an Adult.
SM Toma , TN Eble , MF Wangler , VR Sutton
ENDOCRINE REVIEWS 31 ( 3)
2010
Identification and Functional Annotation of Novel Autism Candidate Genes Using an in Vivo High-Throughput Drosophila Genetic Screen
H Chao , O Kanca , S Manivannan , X Luo
ANNALS OF NEUROLOGY 80 S306 -S307
2016
Clinical variants paired with phenotype: A rich resource for brain gene curation
Maya Chopra , Juliann M Savatt , Taylor I Bingaman , Molly E Good
Genetics in Medicine 26 ( 3) 101035 -101035
3
2024
New diagnostic biomarkers for peroxisomal biogenesis disorders revealed by untargeted metabolomics profiling include significant reduction of sphingomyelin, bile acid alterations, and unique long chain fatty acid elevations
SH Elsea , L Hubert , T Donti , M Ventura
EUROPEAN JOURNAL OF HUMAN GENETICS 26 69 -69
2018
Homozygous variants in MYLK and LMOD1 cause Megacystis Microcolon Intestinal Hypoperistalsis Syndrome by disruption of smooth muscle contractility
R Hofstra , D Halim , E Brosens , M Wangler
NEUROGASTROENTEROLOGY AND MOTILITY 29 67 -67
2017
Antioxidant proteins TSA and PAG are candidates for early Alzheimers pathogenesis.
M McElroy , L Reiter , M Wangler , J Trimble
AMERICAN JOURNAL OF HUMAN GENETICS 71 ( 4) 166 -166
2002
Enhancing Molecular Diagnostics of Mendelian Disorders with AI-MARRVEL: A Knowledge-Driven Artificial Intelligence Approach
Dongxue Mao , Chaozhong Liu , Linhua Wang , Rami AI-Ouran
Two Antioxidant Proteins (TSA and PAG) Interact with Presenilin and are Candidate Genes for Alzheimer's Disease
Michael Francis Wangler
University of California, San Diego
2001
Characterization of the human gene encoding α-aminoadipate aminotransferase (AADAT)
Denise L.M Goh , Ankita Patel , George H Thomas , Gajja S Salomons
Molecular Genetics and Metabolism 76 ( 3) 172 -180
34
2002
Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
Lee-Jun C Wong , David Dimmock , Michael T Geraghty , Richard Quan
Clinical Chemistry 54 ( 7) 1141 -1148
75
2008
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
Hugh J McMillan , Jeremy Schwartzentruber , Amanda Smith , Suzie Lee
BMC Medical Genetics 15 ( 1) 36 -36
35
2014
Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies
David Chitayat , Sylvie Langlois , R. Douglas Wilson , R. Douglas Wilson
Journal of obstetrics and gynaecology Canada 33 ( 7) 736 -750
111
2011
Recours à une méthode ADN (QF-PCR) dans le diagnostic prénatal des aneuploïdies fœtales
Sylvie Langlois , Alessandra Duncan , R. Douglas Wilson , François Audibert
Journal of obstetrics and gynaecology Canada 33 ( 9) 961 -963
2011
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Kym M Boycott , Sacha Ferdinandusse , Michael T Geraghty , Dennis E Bulman
Orphanet Journal of Rare Diseases 7 ( 1) 90 -90
49
2012
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Julien L Marcadier , Amanda M Smith , Daniela Pohl , Jeremy Schwartzentruber
Orphanet Journal of Rare Diseases 8 ( 1) 98 -98
28
2013
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Kym Boycott , Taila Hartley , Shelin Adam , Francois Bernier
Journal of Medical Genetics 52 ( 7) 431 -437
122
2015
MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation
Julien L Marcadier , Margaret Boland , C Ronald Scott , Kheirie Issa
Journal of Medical Genetics 52
2015
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
Wai-Man Chan , Caroline Andrews , Laryssa Dragan , Douglas Fredrick
BMC Genetics 8 ( 1) 26 -26
45
2007
Severe neonatal presentation of mitochondrial citrate carrier (SLC25A1) deficiency
Amanda Smith , Skye McBride , Julien L Marcadier , Jean Michaud
JIMD Reports, Volume 30 73 -79
26
2016
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