Publications:

---

Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease Models & Mechanisms

Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL

Publication Date: 2022-12-29

Variant appearance in text: MYOC: 1196G>T

PubMed Link: 36579626

Variant Present in the following documents:

• dmm-16-049816-s1.pdf

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MYOC: G399V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Scientific Reports

Boudellioua, Imane I; Kulmanov, Maxat M; Schofield, Paul N PN; Gkoutos, Georgios V GV; Hoehndorf, Robert R

Publication Date: 2018-10-02

Variant appearance in text: MYOC: 1196G>T

PubMed Link: 30279426

Variant Present in the following documents:

• 41598_2018_32876_MOESM1_ESM.pdf

View BVdb publication page

---

Understanding mutational effects in digenic diseases.

Nucleic Acids Research

Gazzo, Andrea A; Raimondi, Daniele D; Daneels, Dorien D; Moreau, Yves Y; Smits, Guillaume G; Van Dooren, Sonia S; Lenaerts, Tom T

Publication Date: 2017-09-06

Variant appearance in text: MYOC: G399V

PubMed Link: 28911095

Variant Present in the following documents:

• Main text
• gkx557.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GLC1A: G399V; rs28936694

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYOC: G399V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Glaucoma genetics.

International Ophthalmology Clinics

Challa, Pratap P

Publication Date: 2008

Variant appearance in text: MYOC: Gly399Val

PubMed Link: 18936638

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Molecular Vision

Kumar, Arun A; Basavaraj, Manjunath G MG; Gupta, Santosh K SK; Qamar, Imteyaz I; Ali, Abdullah Mahmood AM; Bajaj, Vineeta V; Ramesh, T K TK; Prakash, D Ravi DR; Shetty, Jyoti S JS; Dorairaj, Syril K SK

Publication Date: 2007-04-30

Variant appearance in text: MYOC: Gly399Val

PubMed Link: 17563717

Variant Present in the following documents:

• Main text
• mv-v13-667.pdf

View BVdb publication page

---

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

American Journal Of Human Genetics

Ming, Jeffrey E JE; Muenke, Maximilian M

Publication Date: 2002-11

Variant appearance in text: MYOC: G399V

PubMed Link: 12395298

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

American Journal Of Human Genetics

Vincent, Andrea L AL; Billingsley, Gail G; Buys, Yvonne Y; Levin, Alex V AV; Priston, Megan M; Trope, Graham G; Williams-Lyn, Donna D; Héon, Elise E

Publication Date: 2002-02

Variant appearance in text: MYOC: G399V

PubMed Link: 11774072

Variant Present in the following documents:

• Main text

View BVdb publication page

---