Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: NOG: 103C>T; Pro35Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.

Human Genome Variation

Sonoyama, Toru T; Ishino, Takashi T; Ogawa, Yui Y; Oda, Takashi T; Takeno, Sachio S

Publication Date: 2023-04-13

Variant appearance in text: NOG: P35S

PubMed Link: 37045840

Variant Present in the following documents:

• 41439_2023_Article_236.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NOG: 103C>T; Pro35Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

Bmc Medical Genomics

Yu, Rong R; Jiang, Hongqun H; Liao, Huihuang H; Luo, Wugen W

Publication Date: 2020-12-11

Variant appearance in text: NOG: P35S

PubMed Link: 33308208

Variant Present in the following documents:

• 12920_2020_Article_843.pdf

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Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Bioscience Reports

Yuan, Zhuang-Zhuang ZZ; Yu, Fang F; Jin, Jie-Yuan JY; Jiao, Zi-Jun ZJ; Tang, Ju-Yu JY; Xiang, Rong R

Publication Date: 2020-06-26

Variant appearance in text: SYNS1: Pro35Ser

PubMed Link: 32478388

Variant Present in the following documents:

• Main text
• bsr-40-bsr20200509.pdf

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Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Bmc Medical Genetics

Ma, Cong C; Liu, Lv L; Wang, Fang-Na FN; Tian, Hai-Shen HS; Luo, Yan Y; Yu, Rong R; Fan, Liang-Liang LL; Li, Ya-Li YL

Publication Date: 2019-11-06

Variant appearance in text: NOG: Pro35Ser

PubMed Link: 31694554

Variant Present in the following documents:

• Main text
• 12881_2019_Article_917.pdf

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A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Molecular Syndromology

Drage Berentsen, Ragnhild R; Haukanes, Bjørn I BI; Júlíusson, Pétur B PB; Rosendahl, Karen K; Houge, Gunnar G

Publication Date: 2019-01

Variant appearance in text: NOG: P35S

PubMed Link: 30733656

Variant Present in the following documents:

• Main text

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TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.

Bone Research

Wu, Mengrui M; Chen, Guiqian G; Li, Yi-Ping YP

Publication Date: 2016

Variant appearance in text: NOG: P35S

PubMed Link: 27563484

Variant Present in the following documents:

• boneres20169.pdf

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A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Human Genome Variation

Takano, Kenichi K; Ogasawara, Noriko N; Matsunaga, Tatsuo T; Mutai, Hideki H; Sakurai, Akihiro A; Ishikawa, Aki A; Himi, Tetsuo T

Publication Date: 2016

Variant appearance in text: NOG: P35S

PubMed Link: 27508084

Variant Present in the following documents:

• Main text

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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: rs28937580

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: NOG: P35S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Plos Genetics

Degenkolbe, Elisa E; König, Jana J; Zimmer, Julia J; Walther, Maria M; Reißner, Carsten C; Nickel, Joachim J; Plöger, Frank F; Raspopovic, Jelena J; Sharpe, James J; Dathe, Katarina K; Hecht, Jacqueline T JT; Mundlos, Stefan S; Doelken, Sandra C SC; Seemann, Petra P

Publication Date: 2013

Variant appearance in text: NOG: P35S

PubMed Link: 24098149

Variant Present in the following documents:

• pgen.1003846.pdf

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Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Clinical Genetics

Usami, S S; Abe, S S; Nishio, S S; Sakurai, Y Y; Kojima, H H; Tono, T T; Suzuki, N N

Publication Date: 2012-12

Variant appearance in text: NOG: P35S

PubMed Link: 22288654

Variant Present in the following documents:

• Main text
• cge0082-0514.pdf

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

American Journal Of Human Genetics

Lehmann, K K; Seemann, P P; Silan, F F; Goecke, T O TO; Irgang, S S; Kjaer, K W KW; Kjaergaard, S S; Mahoney, M J MJ; Morlot, S S; Reissner, C C; Kerr, B B; Wilkie, A O M AO; Mundlos, S S

Publication Date: 2007-08

Variant appearance in text:

PubMed Link: 17668388

Variant Present in the following documents:

• Main text

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