Matthew Thomas

发表

Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

M. Tucker, Erin M. Demo, G. MacCarrick, 2022, American journal of medical genetics. Part A.

Document Title: Gene Polymorphism and Human Pigmentation

K. Wakamatsu, S. Ito, T. Frudakis, 2007 .

Predicting Phenotype from Genotype: Normal Pigmentation *

Shosuke Ito, Kazumasa Wakamatsu, Murray H Brilliant, 2010, Journal of forensic sciences.

Sequences associated with human iris pigmentation.

Matthew Thomas, T. Frudakis, K. Venkateswarlu, 2003, Genetics.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke, Eden Haverfield, Ana Morales, 2018 .

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

CYP2D6*4 polymorphism is associated with statin-induced muscle effects

T. Frudakis, B. Handelin, H. Gomez, 2007, Pharmacogenetics and genomics.

Multilocus OCA2 genotypes specify human iris colors

Matthew Thomas, T. Frudakis, Tony Frudakis, 2007, Human Genetics.