Publications:

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: PTCH1: T728M

PubMed Link: 36125633

Variant Present in the following documents:

• Main text
• CAM4-12-4042-s001.xlsx, sheet 1
• CAM4-12-4042.pdf

View BVdb publication page

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Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

International Journal Of Molecular Sciences

Onodera, Shoko S; Nakamura, Yuriko Y; Azuma, Toshifumi T

Publication Date: 2020-10-13

Variant appearance in text: PTCH1: 2183C>T

PubMed Link: 33066274

Variant Present in the following documents:

• ijms-21-07559-s001.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PTCH1: 2183C>T; Thr728Met; rs115556836

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: PTCH1: 2183C>T; T728M

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: PTCH1: T728M

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1

View BVdb publication page

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New mutations and an updated database for the patched-1 (PTCH1) gene.

Molecular Genetics & Genomic Medicine

Reinders, Marie G MG; van Hout, Antonius F AF; Cosgun, Betûl B; Paulussen, Aimée D AD; Leter, Edward M EM; Steijlen, Peter M PM; Mosterd, Klara K; van Geel, Michel M; Gille, Johan J JJ

Publication Date: 2018-05

Variant appearance in text: BCNS: Thr728Met

PubMed Link: 29575684

Variant Present in the following documents:

• Main text
• MGG3-6-409.pdf

View BVdb publication page

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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: PTCH1: 2183C>T; Thr728Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: PTCH1: T728M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PTCH1: T728M; rs115556836

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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