Researcher profile · Semantic Scholar

R. Pagon

h-index: 45
Works: 499
Citations: 8,921

Most-cited papers

A dyadic approach to the delineation of diagnostic entities in clinical genomics.
L. Biesecker, M. Adam, F. Alkuraya, A. Amemiya +43 more
2021American Journal of Human Genetics89 citations Open access
Semantic Scholar
GRIN2B-Related Neurodevelopmental Disorder -- GeneReviews®
Adam Mp, Ardinger Hh, R. Pagon, Wallace Se +3 more
201961 citations
Semantic Scholar
Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202028 citations
Semantic Scholar
SYNGAP1-Related Intellectual Disability -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202028 citations
Semantic Scholar
Hereditary Hearing Loss and Deafness Overview -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202026 citations
Semantic Scholar
SLC6A3-Related Dopamine Transporter Deficiency Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202025 citations
Semantic Scholar
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202020 citations
Semantic Scholar
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202019 citations
Semantic Scholar
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202018 citations
Semantic Scholar
TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
202017 citations
Semantic Scholar
PAX6-Related Aniridia -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20207 citations
Semantic Scholar
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20206 citations
Semantic Scholar
Nonsyndromic Retinitis Pigmentosa Overview -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20205 citations
Semantic Scholar
Pompe Disease -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20205 citations
Semantic Scholar
FMR1 Disorders -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20204 citations
Semantic Scholar
Heritable Thoracic Aortic Disease Overview -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20204 citations
Semantic Scholar
Wilms Tumor Predisposition -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20203 citations
Semantic Scholar
PLP1 Disorders -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20203 citations
Semantic Scholar
BAP1 Tumor Predisposition Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20203 citations
Semantic Scholar
HFE Hemochromatosis -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
Mucopolysaccharidosis Type III -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
Classic Ehlers-Danlos Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
Rhabdoid Tumor Predisposition Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
Beta-Propeller Protein-Associated Neurodegeneration -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20202 citations
Semantic Scholar
Response to Hamosh et al.
L. Biesecker, M. Adam, F. Alkuraya, A. Amemiya +43 more
2021American Journal of Human Genetics1 citations Open access
Semantic Scholar
TANGO2-Related Metabolic Encephalopathy and Arrhythmias -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Neuronal Ceroid-Lipofuscinoses – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
MPPH Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Huppke-Brendel Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Spondylometaphyseal Dysplasia, Corner Fracture Type -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
MECP2 Disorders -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Hereditary Nephrogenic Diabetes Insipidus -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
CYLD Cutaneous Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Alport Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
GNPTAB-Related Disorders -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
GRN Frontotemporal Dementia -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Udd Distal Myopathy – Tibial Muscular Dystrophy -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Limb-Girdle Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
KCNK9 Imprinting Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Isolated Sulfite Oxidase Deficiency -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
SATB2-Associated Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Deoxyguanosine Kinase Deficiency -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
SPTLC1-Related Hereditary Sensory Neuropathy -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Capillary Malformation-Arteriovenous Malformation Syndrome -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Hereditary Transthyretin Amyloidosis -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20201 citations
Semantic Scholar
Primary Familial and Congenital Polycythemia -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20191 citations
Semantic Scholar
Tetra-Amelia Syndrome – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY -- GeneReviews®
M. Adam, Ardinger Hh, R. Pagon, Wallace Se +3 more
20200 citations
Semantic Scholar

Bean Ljh

×48

K. Stephens×48

L. Biesecker×2

F. Alkuraya×2

M. Bamshad×2

A. Beck×2

James T. Bennett×2

L. Bird×2