Skip to Main Content

Author Details

Yiran Guo
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
2007
81
29
PMIDPaper TitleJournal TitlePublished Year
36698452Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar Ataxia.Neurol Genet2023
36698452Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar Ataxia.Neurol Genet2023
37256937PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Sci Transl Med2023
36541551Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.Neuro Oncol2023
37492101OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell Genom2023
37492101OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell Genom2023
37256937PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Sci Transl Med2023
36541551Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.Neuro Oncol2023
36531233Editorial: The genetics of human Mendelian skin disorders.Front Genet2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
35362222S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.EMBO Mol Med2022
36531233Editorial: The genetics of human Mendelian skin disorders.Front Genet2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
35362222S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.EMBO Mol Med2022
32064741Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.Addict Biol2021
32064741Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.Addict Biol2021
33811546Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.Hum Genet2021
33955014ANKRD11 variants: KBG syndrome and beyond.Clin Genet2021
35002951Puberty Status Modifies the Effects of Genetic Variants, Lifestyle Factors and Their Interactions on Adiponectin: The BCAMS Study.Front Endocrinol (Lausanne)2021
33811546Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.Hum Genet2021
35002951Puberty Status Modifies the Effects of Genetic Variants, Lifestyle Factors and Their Interactions on Adiponectin: The BCAMS Study.Front Endocrinol (Lausanne)2021
33955014ANKRD11 variants: KBG syndrome and beyond.Clin Genet2021
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
31794024Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.Brain2020
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
31668493Association of a functional Claudin-5 variant with schizophrenia in female patients with the 22q11.2 deletion syndrome.Schizophr Res2020
33118667Spatially and Temporally Resolved Measurements of NO Adsorption/Desorption over NOx-Storage Catalyst.Chemphyschem2020
32674786A review on microfluidics manipulation of the extracellular chemical microenvironment and its emerging application to cell analysis.Anal Chim Acta2020
32786485Multichannel Synchronous Hydrodynamic Gating Coupling with Concentration Gradient Generator for High-Throughput Probing Dynamic Signaling of Single Cells.Anal Chem2020
31668493Association of a functional Claudin-5 variant with schizophrenia in female patients with the 22q11.2 deletion syndrome.Schizophr Res2020
31794024Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.Brain2020
33118667Spatially and Temporally Resolved Measurements of NO Adsorption/Desorption over NOx-Storage Catalyst.Chemphyschem2020
32674786A review on microfluidics manipulation of the extracellular chemical microenvironment and its emerging application to cell analysis.Anal Chim Acta2020
32786485Multichannel Synchronous Hydrodynamic Gating Coupling with Concentration Gradient Generator for High-Throughput Probing Dynamic Signaling of Single Cells.Anal Chem2020
30503783Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder.Eur Neuropsychopharmacol2019
30558828Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.Mol Genet Metab2019
30503783Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder.Eur Neuropsychopharmacol2019
30617166Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.Neurology2019
30561989Dynamic Microfluidic Cytometry for Single-Cell Cellomics: High-Throughput Probing Single-Cell-Resolution Signaling.Anal Chem2019
31058441Clinical and molecular spectrum of CHOPS syndrome.Am J Med Genet A2019
31058441Clinical and molecular spectrum of CHOPS syndrome.Am J Med Genet A2019
30617166Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.Neurology2019
30561989Dynamic Microfluidic Cytometry for Single-Cell Cellomics: High-Throughput Probing Single-Cell-Resolution Signaling.Anal Chem2019
30558828Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.Mol Genet Metab2019
29419850[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2018
30415424Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics.Int J Bipolar Disord2018
29419850[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2018
30415424Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics.Int J Bipolar Disord2018
27102574A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.Clin Genet2017
28630421A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.Sci Rep2017
  • 1 - 50 of 162

Recommended Authors

Khalid A Fakhro
Weill Cornell Medical College
Career Start Year 2011
Number of shared co-authors 12
Christian Gilissen
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 22
John D Overton
Regeneron Pharmaceuticals
Career Start Year 2008
Number of shared co-authors 18
Irina R Tikhonova
School of Pharmacy, Queen's University Belfast
Career Start Year 2006
Number of shared co-authors 5
Kati J Buckingham
University of Washington
Career Start Year 2005
Number of shared co-authors 13
Ali Torkamani
Scripps Science Institute
Career Start Year 2005
Number of shared co-authors 47
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 24
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Career Start Year 2005
Number of shared co-authors 7
Alicia Hawes
Regeneron Pharmaceuticals Inc.
Career Start Year 2004
Number of shared co-authors 18
Christin D Collins
Emory University Department of Human Genetics Atlanta Georgia 30322.
Career Start Year 2003
Number of shared co-authors 0
Sek Won Kong
Boston Children's Hospital, Seoul National University, Seoul National University Hospital
Career Start Year 2003
Number of shared co-authors 2
Daniel G MacArthur
Broad Institute of MIT and Harvard
Career Start Year 2003
Number of shared co-authors 50
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 29
Yufeng Shen
Columbia University
Career Start Year 2002
Number of shared co-authors 17
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 17
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Career Start Year 2001
Number of shared co-authors 12
Eric W Klee
Mayo Clinic College of Medicine and Science
Career Start Year 2001
Number of shared co-authors 20
Joshua D Smith
University of Washington
Career Start Year 1998
Number of shared co-authors 54
Jenny C Taylor
University of Oxford
Career Start Year 1996
Number of shared co-authors 18
Unnur Thorsteinsdottir
University of Iceland
Career Start Year 1995
Number of shared co-authors 103
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Career Start Year 1993
Number of shared co-authors 62
Stanley F Nelson
university of california los angeles
Career Start Year 1993
Number of shared co-authors 92
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Career Start Year 1993
Number of shared co-authors 46
Rafa?? P??oski
Medical University of Warsaw
Career Start Year 1992
Number of shared co-authors 20
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 75
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Career Start Year 1988
Number of shared co-authors 7
Mark J Daly
Massachusetts General Hospital
Career Start Year 1987
Number of shared co-authors 162
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 12
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 102
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 84

Collaborators

Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 53
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 32
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 13
Cecilia E Kim
Co-authored papers 13
Dong Li
Co-authored papers 12
Patrick M A Sleiman
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 12
Frank D Mentch
Center for Applied Genomics (CAG), Children's Hospital of Philadelphia
Co-authored papers 11
Leslie A Lange
Co-authored papers 9
Jin Li
Co-authored papers 9
Joseph T Glessner
Co-authored papers 9
Zhi Wei
Co-authored papers 9
Alexander P Reiner
Co-authored papers 9
James G Wilson
Beth Israel Deaconess Medical Center
Co-authored papers 8
Rosetta M Chiavacci
Co-authored papers 8
Fengxiang Wang
Co-authored papers 8
Nicholas J Schork
University of California San Diego
Co-authored papers 7
Kelly Thomas
Co-authored papers 7
Wade H Berrettini
University of Pennsylvania
Co-authored papers 7
Susan Redline
Brigham and Women's Hospital
Co-authored papers 7
Michael Y Tsai
Co-authored papers 6
Struan F A Grant
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 6
N Charlotte Onland-Moret
Co-authored papers 6
Sarah G Buxbaum
Co-authored papers 6
Myriam Fornage
Co-authored papers 6
Jun Wang
Zhongnan Hospital of Wuhan University
Co-authored papers 6
Jonathan P Bradfield
Co-authored papers 6
Rasmus Nielsen
Co-authored papers 5
Erin N Smith
Department of Pediatrics and Rady's Children's Hospital, University of California
Co-authored papers 5
Clara C Elbers
Co-authored papers 5
Wm Monique Verschuren
Co-authored papers 5
Release 1.2