Tammy Kammin

发表

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Ryan L. Collins, D. Warburton, J. Gusella, 2016, American journal of human genetics.

Loss of LDAH associated with prostate cancer and hearing loss

Nicholas A. Sinnott-Armstrong, Richard C. Sallari, Alexander S. Banks, 2018, Human molecular genetics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility

C. Morton, M. Talkowski, Tammy Kammin, 2019, bioRxiv.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

C. Morton, M. Talkowski, D. Harris, 2018, European Journal of Human Genetics.

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Fowzan S Alkuraya, Michael E Talkowski, Karen W Gripp, 2017, American journal of human genetics.

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

Ryan L. Collins, J. Gusella, C. Morton, 2016, European Journal of Human Genetics.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Ryan L. Collins, D. MacArthur, Daisuke Sato, 2017, Nature Genetics.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

J. Gusella, C. Morton, M. Talkowski, 2016, Human molecular genetics.

A Genetic Lung Cancer Susceptibility Test may have a Positive Effect on Smoking Cessation

Tammy Kammin, K. Thirlaway, A. Fenton, 2015, Journal of Genetic Counseling.