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: DHCR7: 1210C>T; Arg404Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrating rapid exome sequencing into NICU clinical care after a pilot research study.

Npj Genomic Medicine

D'Gama, Alissa M AM; Del Rosario, Maya C MC; Bresnahan, Mairead A MA; Yu, Timothy W TW; Wojcik, Monica H MH; Agrawal, Pankaj B PB

Publication Date: 2022-09-05

Variant appearance in text: DHCR7: 1210C>T; R404C

PubMed Link: 36064943

Variant Present in the following documents:

• 41525_2022_326_MOESM1_ESM.xlsx, sheet 1

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: rs61757582

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.

Balkan Journal Of Medical Genetics : Bjmg

Begic, N N; Begic, Z Z; Begic, E E

Publication Date: 2021-06

Variant appearance in text: SLOS: Arg404Cys

PubMed Link: 34447666

Variant Present in the following documents:

• Main text
• bjmg-24-099.pdf

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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Jama Network Open

Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH

Publication Date: 2021-07-01

Variant appearance in text: DHCR7: 1210C>T

PubMed Link: 34251446

Variant Present in the following documents:

• jamanetwopen-e2114155-s001.pdf

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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: 1210C>T; Arg404Cys; rs61757582

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: Arg404Cys

PubMed Link: 33836803

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1789.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: DHCR7: 1210C>T; R404C

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: DHCR7: 1210C>T; Arg404Cys; rs61757582

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 1210C>T; Arg404Cys; rs61757582

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: R404C; rs61757582

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs61757582

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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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: DHCR7: R404C

PubMed Link: 29300326

Variant Present in the following documents:

• Main text
• ijms-19-00141.pdf
• ijms-19-00141-s001.pdf

View BVdb publication page

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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: 1210C>T; Arg404Cys; rs61757582

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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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: DHCR7: 1210C>T; Arg404Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: 1210C>T

PubMed Link: 28166604

Variant Present in the following documents:

• Main text
• PD-37-350.pdf

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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: R404C

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

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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: SLOS: R404C; rs61757582

PubMed Link: 27401223

Variant Present in the following documents:

• Main text
• tpj201648a.pdf
• tpj201648x2.xlsx, sheet 1

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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: R404C

PubMed Link: 27066502

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R404C

PubMed Link: 26685159

Variant Present in the following documents:

• Main text
• ddv507.pdf

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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: SLOS: R404C

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: DHCR7: R404C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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: SLOS: R404C

PubMed Link: 25734025

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg404Cys

PubMed Link: 24824134

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1210C>T; rs61757582

PubMed Link: 24813812

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg404Cys

PubMed Link: 23293579

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R404C

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

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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: R404C

PubMed Link: 22391996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adrenal function in Smith-Lemli-Opitz syndrome.

American Journal Of Medical Genetics. Part A

Bianconi, Simona E SE; Conley, Sandra K SK; Keil, Meg F MF; Sinaii, Ninet N; Rother, Kristina I KI; Porter, Forbes D FD; Stratakis, Constantine A CA

Publication Date: 2011-11

Variant appearance in text: SLOS: R404C

PubMed Link: 21990131

Variant Present in the following documents:

• Main text

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Smith-Lemli-Opitz syndrome.

Expert Reviews In Molecular Medicine

DeBarber, Andrea E AE; Eroglu, Yasemen Y; Merkens, Louise S LS; Pappu, Anuradha S AS; Steiner, Robert D RD

Publication Date: 2011-07-22

Variant appearance in text: DHCR7: R404C

PubMed Link: 21777499

Variant Present in the following documents:

• Main text

View BVdb publication page

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Malformation syndromes caused by disorders of cholesterol synthesis.

Journal Of Lipid Research

Porter, Forbes D FD; Herman, Gail E GE

Publication Date: 2011-01

Variant appearance in text: SLOS: R404C

PubMed Link: 20929975

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent insights into the Smith-Lemli-Opitz syndrome.

Clinical Genetics

Yu, H H; Patel, S B SB

Publication Date: 2005-11

Variant appearance in text: DHCR7: R404C

PubMed Link: 16207203

Variant Present in the following documents:

• Main text

View BVdb publication page

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Malformation syndromes due to inborn errors of cholesterol synthesis.

The Journal Of Clinical Investigation

Porter, Forbes D FD

Publication Date: 2002-09

Variant appearance in text: DHCR7: R404C

PubMed Link: 12235098

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

American Journal Of Human Genetics

Witsch-Baumgartner, M M; Fitzky, B U BU; Ogorelkova, M M; Kraft, H G HG; Moebius, F F FF; Glossmann, H H; Seedorf, U U; Gillessen-Kaesbach, G G; Hoffmann, G F GF; Clayton, P P; Kelley, R I RI; Utermann, G G

Publication Date: 2000-02

Variant appearance in text: SLOS: R404C

PubMed Link: 10677299

Variant Present in the following documents:

• Main text

View BVdb publication page

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