DHCR7 c.278C>T ;(p.T93M)

Variant ID: 11-71155082-G-A

NM_001360.2(DHCR7):c.278C>T;(p.T93M)

This variant was identified in 77 publications

View GRCh38 version.




Publications:


Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Genes
Senarathne, Udara D UD; Indika, Neluwa-Liyanage R NR; Jezela-Stanek, Aleksandra A; Ciara, Elżbieta E; Frye, Richard E RE; Chen, Cliff C; Stepien, Karolina M KM
Publication Date: 2023-03-27

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 37107561
Variant Present in the following documents:
  • genes-14-00803.pdf
View BVdb publication page



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: DHCR7: 278C>T; Thr93Met
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.

Molecular Vision
Farkas, Michael H MH; Skelton, Lara A LA; Ramachandra-Rao, Sriganesh S; Au, Elizabeth E; Fliesler, Steven J SJ
Publication Date: 2022

Variant appearance in text: DHCR7: T93M
PubMed Link: 36540063
Variant Present in the following documents:
  • Main text
  • mv-v28-394.pdf
View BVdb publication page



Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Ebiomedicine
Bonfiglio, Ferdinando F; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; D'Alterio, Giuseppe G; Aievola, Vincenzo V; Boccia, Angelo A; Ardito, Martina M; Furini, Simone S; Renieri, Alessandra A; Morini, Martina M; Stainczyk, Sabine S; Westermann, Frank F; Paolella, Giovanni G; Eva, Alessandra A; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2022-12-06

Variant appearance in text: DHCR7: 278C>T; Thr93Met
PubMed Link: 36493725
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
View BVdb publication page



Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis.

Cell Reports
Anderson, Ruthellen H RH; Sochacki, Kem A KA; Vuppula, Harika H; Scott, Brandon L BL; Bailey, Elizabeth M EM; Schultz, Maycie M MM; Kerkvliet, Jason G JG; Taraska, Justin W JW; Hoppe, Adam D AD; Francis, Kevin R KR
Publication Date: 2021-11-16

Variant appearance in text: SLOS: T93M
PubMed Link: 34788623
Variant Present in the following documents:
  • NIHMS1757906-supplement-6.pdf
  • NIHMS1757906-supplement-1.pdf
View BVdb publication page



Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders
Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á
Publication Date: 2021-12

Variant appearance in text: DHCR7: T93M
PubMed Link: 34241766
Variant Present in the following documents:
  • 11154_2021_9671_MOESM1_ESM.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: DHCR7: 278C>T; Thr93Met; rs80338853
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.

Orphanet Journal Of Rare Diseases
Park, Jong Eun JE; Lee, Taeheon T; Ha, Kyeongsu K; Ki, Chang-Seok CS
Publication Date: 2021-04-09

Variant appearance in text: DHCR7: Thr93Met
PubMed Link: 33836803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Medication effects on developmental sterol biosynthesis.

Molecular Psychiatry
Korade, Zeljka Z; Heffer, Marija M; Mirnics, Károly K
Publication Date: 2022-01

Variant appearance in text: DHCR7: T93M
PubMed Link: 33820938
Variant Present in the following documents:
  • nihms-1685522.pdf
View BVdb publication page



Visualizing Cholesterol in the Brain by On-Tissue Derivatization and Quantitative Mass Spectrometry Imaging.

Analytical Chemistry
Angelini, Roberto R; Yutuc, Eylan E; Wyatt, Mark F MF; Newton, Jillian J; Yusuf, Fowzi A FA; Griffiths, Lauren L; Cooze, Benjamin J BJ; El Assad, Dana D; Frache, Gilles G; Rao, Wei W; Allen, Luke B LB; Korade, Zeljka Z; Nguyen, Thu T A TTA; Rathnayake, Rathnayake A C RAC; Cologna, Stephanie M SM; Howell, Owain W OW; Clench, Malcolm R MR; Wang, Yuqin Y; Griffiths, William J WJ
Publication Date: 2021-03-23

Variant appearance in text: SLOS: T93M
PubMed Link: 33687199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis.

Acs Chemical Neuroscience
Tallman, Keri A KA; Allen, Luke B LB; Klingelsmith, Korinne B KB; Anderson, Allison A; Genaro-Mattos, Thiago C TC; Mirnics, Károly K; Porter, Ned A NA; Korade, Zeljka Z
Publication Date: 2021-02-17

Variant appearance in text: SLOS: 278C>T
PubMed Link: 33528983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific Reports
Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A
Publication Date: 2021-01-11

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 33431980
Variant Present in the following documents:
  • 41598_2020_79412_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

Journal Of Lipid Research
Kanuri, Babunageswararao B; Fong, Vincent V; Ponny, Sithara Raju SR; Tallman, Keri A KA; Rao, Sriganesh Ramachandra SR; Porter, Ned N; Fliesler, Steven J SJ; Patel, Shailendra B SB
Publication Date: 2021

Variant appearance in text: SLOS: T93M
PubMed Link: 33410752
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

Journal Of Lipid Research
Kanuri, Babunageswararao B; Fong, Vincent V; Ponny, Sithara Raju SR; Tallman, Keri A KA; Rao, Sriganesh Ramachandra SR; Porter, Ned N; Fliesler, Steven J SJ; Patel, Shailendra B SB
Publication Date: 2020-11-22

Variant appearance in text: SLOS: T93M
PubMed Link: 33410752
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Italian Journal Of Pediatrics
Delvecchio, Maurizio M; Rapone, Biagio B; Simonetti, Simonetta S; Fecarotta, Simona S; De Carlo, Graziana G; Favoino, Elvira E; Loverro, Maria Teresa MT; Romano, Anna Maria Isdraele AMI; Taurino, Federica F; Di Naro, Edoardo E; Gnoni, Antonio A
Publication Date: 2020-10-28

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 33115520
Variant Present in the following documents:
  • 13052_2020_Article_924.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DHCR7: T93M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Maternal cariprazine exposure inhibits embryonic and postnatal brain cholesterol biosynthesis.

Molecular Psychiatry
Genaro-Mattos, Thiago C TC; Anderson, Allison A; Allen, Luke B LB; Tallman, Keri A KA; Porter, Ned A NA; Korade, Zeljka Z; Mirnics, Károly K
Publication Date: 2020-11

Variant appearance in text: SLOS: T93M
PubMed Link: 32504050
Variant Present in the following documents:
  • Main text
  • 41380_2020_Article_801.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: DHCR7: 278C>T; Thr93Met; rs80338853
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



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: DHCR7: 278C>T; T93M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cholesterol Biosynthesis and Uptake in Developing Neurons.

Acs Chemical Neuroscience
Genaro-Mattos, Thiago C TC; Anderson, Allison A; Allen, Luke B LB; Korade, Zeljka Z; Mirnics, Károly K
Publication Date: 2019-08-21

Variant appearance in text: SLOS: 278C>T
PubMed Link: 31244054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Frontiers In Genetics
Gao, Chao C; Wang, Xiaona X; Mei, Shiyue S; Li, Dongxiao D; Duan, Jiali J; Zhang, Pei P; Chen, Baiyun B; Han, Liang L; Gao, Yang Y; Yang, Zhenhua Z; Li, Bing B; Yang, Xiu-An XA
Publication Date: 2019

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 31178897
Variant Present in the following documents:
  • Main text
  • fgene-10-00485.pdf
  • Table_4.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: DHCR7: 278C>T; T93M
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM
Publication Date: 2019-12

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 31164752
Variant Present in the following documents:
  • 41436_2019_566_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: DHCR7: 278C>T; Thr93Met
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: DHCR7: T93M; rs80338853
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome.

Autophagy
Ramachandra Rao, Sriganesh S; Pfeffer, Bruce A BA; Más Gómez, Néstor N; Skelton, Lara A LA; Keiko, Ueda U; Sparrow, Janet R JR; Rowsam, Aryn M AM; Mitchell, Claire H CH; Fliesler, Steven J SJ
Publication Date: 2018

Variant appearance in text: SLOS: T93M
PubMed Link: 29979914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Translational Oncology
Park, Jeong Hwan JH; Lee, Cheol C; Chang, Mee Soo MS; Kim, Kwangsoo K; Choi, Seongmin S; Lee, Hyunjung H; Lee, Hyun-Seob HS; Moon, Kyung Chul KC
Publication Date: 2018-08

Variant appearance in text: DHCR7: 278C>T; T93M; rs80338853
PubMed Link: 29925043
Variant Present in the following documents:
  • mmc3.xlsx, sheet 6
View BVdb publication page



Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.

American Journal Of Perinatology
Gibbins, Karen J KJ; Reddy, Uma M UM; Saade, George R GR; Goldenberg, Robert L RL; Dudley, Donald J DJ; Parker, Corette B CB; Thorsten, Vanessa V; Pinar, Halit H; Bukowski, Radek R; Hogue, Carol J CJ; Silver, Robert M RM
Publication Date: 2018-08

Variant appearance in text: DHCR7: T93M
PubMed Link: 29433144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.

Scientific Reports
Fliesler, Steven J SJ; Peachey, Neal S NS; Herron, Josi J; Hines, Kelly M KM; Weinstock, Nadav I NI; Ramachandra Rao, Sriganesh S; Xu, Libin L
Publication Date: 2018-01-19

Variant appearance in text: SLOS: T93M
PubMed Link: 29352199
Variant Present in the following documents:
  • 41598_2018_Article_19592.pdf
View BVdb publication page



Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

International Journal Of Molecular Sciences
Peng, Yunhui Y; Myers, Rebecca R; Zhang, Wenxing W; Alexov, Emil E
Publication Date: 2018-01-04

Variant appearance in text: SLOS: T93M
PubMed Link: 29300326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipid metabolism fattens up hedgehog signaling.

Bmc Biology
Blassberg, Robert R; Jacob, John J
Publication Date: 2017-10-26

Variant appearance in text: SLOS: T93M
PubMed Link: 29073896
Variant Present in the following documents:
  • 12915_2017_Article_442.pdf
View BVdb publication page



iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.

Embo Molecular Medicine
Hollingsworth, Ethan W EW; Vaughn, Jacob E JE; Orack, Josh C JC; Skinner, Chelsea C; Khouri, Jamil J; Lizarraga, Sofia B SB; Hester, Mark E ME; Watanabe, Fumihiro F; Kosik, Kenneth S KS; Imitola, Jaime J
Publication Date: 2017-12

Variant appearance in text: DHCR7: T93M
PubMed Link: 29051230
Variant Present in the following documents:
  • EMMM-9-1742-s001.pdf
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: DHCR7: 278C>T; Thr93Met; rs80338853
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Statins and the Brain: More than Lipid Lowering Agents?

Current Neuropharmacology
Fracassi, Anna A; Marangoni, Martina M; Rosso, Pamela P; Pallottini, Valentina V; Fioramonti, Marco M; Siteni, Silvia S; Segatto, Marco M
Publication Date: 2019

Variant appearance in text: DHCR7: T93M
PubMed Link: 28676012
Variant Present in the following documents:
  • Main text
  • CN-17-59.pdf
View BVdb publication page



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: DHCR7: 278C>T; Thr93Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.

Genes, Brain, And Behavior
Sharif, N F NF; Korade, Z Z; Porter, N A NA; Harrison, F E FE
Publication Date: 2017-07

Variant appearance in text: DHCR7: T93M
PubMed Link: 28220990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis
Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD
Publication Date: 2017-04

Variant appearance in text: DHCR7: 278C>T
PubMed Link: 28166604
Variant Present in the following documents:
  • Main text
  • PD-37-350.pdf
View BVdb publication page



A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Kratz, Lisa L; Sparks, Susan E SE; Wheeler, Courtney C; Bianconi, Simona S; Gropman, Andrea A; Calis, Karim A KA; Kelley, Richard I RI; Tierney, Elaine E; Porter, Forbes D FD
Publication Date: 2017-03

Variant appearance in text: DHCR7: T93M
PubMed Link: 27513191
Variant Present in the following documents:
  • Main text
  • nihms802549.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: DHCR7: 278C>T; T93M; rs80338853
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics
Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R
Publication Date: 2017-04

Variant appearance in text: DHCR7: T93M
PubMed Link: 27415407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

The Pharmacogenomics Journal
Boland, M R MR; Tatonetti, N P NP
Publication Date: 2016-10

Variant appearance in text: DHCR7: T93M
PubMed Link: 27401223
Variant Present in the following documents:
  • Main text
  • tpj201648a.pdf
  • tpj201648x2.xlsx, sheet 1
  • tpj201648x1.pdf
View BVdb publication page



Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression.

Biomed Research International
Xiao, Wen-lin WL; Zhang, Dai-zun DZ; Xu, Hong H; Zhuang, Cui-zhu CZ
Publication Date: 2016

Variant appearance in text: SLOS: T93M
PubMed Link: 27066502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.

The Journal Of Biological Chemistry
Prabhu, Anika V AV; Luu, Winnie W; Sharpe, Laura J LJ; Brown, Andrew J AJ
Publication Date: 2016-04-15

Variant appearance in text: DHCR7: T93M
PubMed Link: 26887953
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

Human Molecular Genetics
Blassberg, Robert R; Macrae, James I JI; Briscoe, James J; Jacob, John J
Publication Date: 2016-02-15

Variant appearance in text: SLOS: T93M
PubMed Link: 26685159
Variant Present in the following documents:
  • Main text
  • ddv507.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: SLOS: T93M
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.

Molecular Genetics And Metabolism Reports
Pasta, Saloni S; Akhile, Omoye O; Tabron, Dorothy D; Ting, Flora F; Shackleton, Cedric C; Watson, Gordon G
Publication Date: 2015-09

Variant appearance in text: SLOS: T93M
PubMed Link: 26347274
Variant Present in the following documents:
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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: DHCR7: T93M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Expert Opinion On Orphan Drugs
Bianconi, Simona E SE; Cross, Joanna L JL; Wassif, Christopher A CA; Porter, Forbes D FD
Publication Date: 2015-03

Variant appearance in text: DHCR7: T93M
PubMed Link: 25734025
Variant Present in the following documents:
  • Main text
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Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.

Molecular Genetics And Metabolism Reports
Chang, Shaohua S; Ren, Gongyi G; Steiner, Robert D RD; Merkens, Louise L; Roullet, Jean-Baptiste JB; Korade, Zeljka Z; DiMuzio, Paul J PJ; Tulenko, Thomas N TN
Publication Date: 2014

Variant appearance in text: SLOS: 278C>T
PubMed Link: 25405082
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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DHCR7: T93M
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
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Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Annual Review Of Genomics And Human Genetics
Platt, Frances M FM; Wassif, Christopher C; Colaco, Alexandria A; Dardis, Andrea A; Lloyd-Evans, Emyr E; Bembi, Bruno B; Porter, Forbes D FD
Publication Date: 2014

Variant appearance in text: SLOS: T93M
PubMed Link: 25184529
Variant Present in the following documents:
  • Main text
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Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.

Molecular Genetics And Metabolism Reports
Ying, Lee L; Matabosch, Xavier X; Serra, Montserrat M; Watson, Berna B; Shackleton, Cedric C; Watson, Gordon G
Publication Date: 2014

Variant appearance in text: SLOS: T93M
PubMed Link: 25024934
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Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

European Journal Of Human Genetics : Ejhg
Witsch-Baumgartner, Martina M; Lanthaler, Barbara B
Publication Date: 2015-03

Variant appearance in text: SLOS: 278C>T
PubMed Link: 24824134
Variant Present in the following documents:
  • Main text
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Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Clinical Genetics
Cross, J L JL; Iben, J J; Simpson, C L CL; Thurm, A A; Swedo, S S; Tierney, E E; Bailey-Wilson, J E JE; Biesecker, L G LG; Porter, F D FD; Wassif, C A CA
Publication Date: 2015-06

Variant appearance in text: SLOS: 278C>T; rs80338853
PubMed Link: 24813812
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Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Journal Of Inherited Metabolic Disease
Sparks, S E SE; Wassif, C A CA; Goodwin, H H; Conley, S K SK; Lanham, D C DC; Kratz, L E LE; Hyland, K K; Gropman, A A; Tierney, E E; Porter, F D FD
Publication Date: 2014-05

Variant appearance in text: DHCR7: T93M
PubMed Link: 24500076
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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: DHCR7: T93M
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
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Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome.

Biochemical Pharmacology
Meljon, Anna A; Watson, Gordon L GL; Wang, Yuqin Y; Shackleton, Cedric H L CH; Griffiths, William J WJ
Publication Date: 2013-07-01

Variant appearance in text: SLOS: T93M
PubMed Link: 23500538
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Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Molecular Syndromology
Balogh, I I; Koczok, K K; Szabó, G P GP; Török, O O; Hadzsiev, K K; Csábi, G G; Balogh, L L; Dzsudzsák, E E; Ajzner, E E; Szabó, L L; Csákváry, V V; Oláh, A V AV
Publication Date: 2012-11

Variant appearance in text: DHCR7: Thr93Met
PubMed Link: 23293579
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Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Svoboda, Melissa D MD; Christie, Jill M JM; Eroglu, Yasemen Y; Freeman, Kurt A KA; Steiner, Robert D RD
Publication Date: 2012-11-15

Variant appearance in text: DHCR7: T93M
PubMed Link: 23042642
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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Publication Date: 2013-03

Variant appearance in text: DHCR7: 278C>T; T93M
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
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Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Clinics In Dermatology
Elias, Peter M PM; Williams, Mary L ML; Feingold, Kenneth R KR
Publication Date: 2012

Variant appearance in text: SLOS: T93M
PubMed Link: 22507046
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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Journal Of Inherited Metabolic Disease
Roullet, Jean-Baptiste JB; Merkens, Louise S LS; Pappu, Anuradha S AS; Jacobs, Megan D MD; Winter, Rolf R; Connor, William E WE; Steiner, Robert D RD
Publication Date: 2012-09

Variant appearance in text: SLOS: T93M
PubMed Link: 22391996
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