Pathogenic Variants

Showing results 1 to 10 from more than 200,000 results:

Pathogenic Variants: Top KOLs in the world

#1	Heidi L Rehm
	Center for Genomic Medicine (C.A.-T., H.L.R.), Massachusetts star star star star star Known for Genome Sequencing | Hearing Loss | Genetic Testing | Variant Interpretation | Matchmaker Exchange

#2	Sherri J Bale
	GeneDx, 207 Perry Parkway, Gaithersburg, MD USA | Bale Genet star star star star star Known for Epidermolytic Hyperkeratosis | Genetic Testing | Basal Cell | Rheumatoid Arthritis | Autoimmune Diseases

#3	Wayne W Grody
	Divisions of Medical Genetics and Molecular Diagnostics, Dep star star star star star_half Known for Situ Hybridization | Clinical Oncology | Genetic Testing | Cystic Fibrosis | Molecular Pathology

#4	Madhuri R Hegde
	Global Laboratory Services, Perkin Elmer, Waltham, USA | Per star star star star star_half Known for Genetic Testing | Congenital Disorders | Saliva Samples | Familial Adenomatous Polyposis | Incidental Findings

#5	Soma Das
	Centre of Excellence in Materials Science/Sensors Nanoelectr star star star star star_border Known for Genetic Testing | Endometrial Carcinoma | Gene Expression | Subcortical Band Heterotopia | Sotos Syndrome

#6	Julie M Gastier‐Foster
	Molecular Genetic Pathology Curriculum Update Working Group star star star star star_border Known for Lymphoblastic Leukemia | Alveolar Rhabdomyosarcoma | Minimal Residual Disease | Situ Hybridization | Children Oncology

#7	Elaine Lyon
	HudsonAlpha Institute for Biotechnology, Huntsville, AL | Cl star star star star star_border Known for Molecular Pathology | Capillary Electrophoresis | Mutation Detection | Genetic Testing | Cystic Fibrosis

#8	Elaine B Spector
	Clinical Genetics and Metabolism, University of Colorado, Sc star star star star star_border Known for Acanthosis Nigricans | Medical Genetics | Aldh7a1 Mutations | Arginase Activity | Nonketotic Hyperglycinemia

#9	David P Bick
	HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA star star star star star_border Known for Incidental Findings | Genomic Medicine | Hypogonadotropic Hypogonadism | Kallmann Syndrome | Genome Sequencing

#10	Karl V Voelkerding
	Voelkerding Consulting, Salt Lake City, Utah (Voelkerding). star star star star star_border Known for Molecular Pathology | Amplicon Melting | Unlabeled Probe | Exome Sequencing | Readit Assay