Rachel Westman

发表

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Vaginal Microbiota of Women with Frequent Vulvovaginal Candidiasis

L. Forney, Xia Zhou, T. Osborn, 2009, Infection and Immunity.

Identification of novel candidate disease genes from de novo exonic copy number variants

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Chronic Lung Disease in Cutis Laxa

Rachel Westman, 2011 .

Genetic Counselors’ and Genetic Counseling Students’ Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force

R. Nagy, Laura Conway, B. Finucane, 2015, Journal of Genetic Counseling.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Vaginal Microbiota of Women with Frequent Vulvovaginal Candidiasis

L. Forney, Xia Zhou, T. Osborn, 2009, Infection and Immunity.