Publications:

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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: SHH: 91G>A; Gly31Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Highly Conserved C-Terminal Region of Indian Hedgehog N-Fragment Contributes to Its Auto-Processing and Multimer Formation.

Biomolecules

Wang, Xiaoqing X; Liu, Hao H; Liu, Yanfang Y; Han, Gefei G; Wang, Yushu Y; Chen, Haifeng H; He, Lin L; Ma, Gang G

Publication Date: 2021-05-25

Variant appearance in text: SHH: G31R

PubMed Link: 34070546

Variant Present in the following documents:

• Main text
• biomolecules-11-00792.pdf

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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics

Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME

Publication Date: 2021

Variant appearance in text: rs28936675

PubMed Link: 33981330

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SHH: 91G>A; Gly31Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: HPE3: G31R

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: SHH: G31R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Human Mutation

Roessler, Erich E; El-Jaick, Kenia B KB; Dubourg, Christèle C; Vélez, Jorge I JI; Solomon, Benjamin D BD; Pineda-Alvarez, Daniel E DE; Lacbawan, Felicitas F; Zhou, Nan N; Ouspenskaia, Maia M; Paulussen, Aimée A; Smeets, Hubert J HJ; Hehr, Ute U; Bendavid, Claude C; Bale, Sherri S; Odent, Sylvie S; David, Véronique V; Muenke, Maximilian M

Publication Date: 2009-10

Variant appearance in text: SHH: 91G>A

PubMed Link: 19603532

Variant Present in the following documents:

• Main text

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Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Human Genetics

Singh, Samer S; Tokhunts, Robert R; Baubet, Valerie V; Goetz, John A JA; Huang, Zhen Jane ZJ; Schilling, Neal S NS; Black, Kendall E KE; MacKenzie, Todd A TA; Dahmane, Nadia N; Robbins, David J DJ

Publication Date: 2009-02

Variant appearance in text: SHH: G31R

PubMed Link: 19057928

Variant Present in the following documents:

• Main text

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Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Maity, Tapan T; Fuse, Naoyuki N; Beachy, Philip A PA

Publication Date: 2005-11-22

Variant appearance in text: SHH: G31R

PubMed Link: 16282375

Variant Present in the following documents:

• Main text

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