Publications:

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Frontiers In Genetics

Mellone, Simona S; Puricelli, Chiara C; Vurchio, Denise D; Ronzani, Sara S; Favini, Simone S; Maruzzi, Arianna A; Peruzzi, Cinzia C; Papa, Amanda A; Spano, Alice A; Sirchia, Fabio F; Mandrile, Giorgia G; Pelle, Alessandra A; Rasmini, Paolo P; Vercellino, Fabiana F; Zonta, Andrea A; Rabbone, Ivana I; Dianzani, Umberto U; Viri, Maurizio M; Giordano, Mara M

Publication Date: 2022

Variant appearance in text: rs138659167

PubMed Link: 36035117

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: rs138659167

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: rs138659167

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: rs138659167

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

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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: 964-1G>T; rs138659167

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One

Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A

Publication Date: 2021

Variant appearance in text: rs138659167

PubMed Link: 33857205

Variant Present in the following documents:

• Main text
• pone.0249695.pdf

View BVdb publication page

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine

Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM

Publication Date: 2020-12-10

Variant appearance in text: rs138659167

PubMed Link: 33303739

Variant Present in the following documents:

• 41525_2020_161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.

Jimd Reports

Temple, Suzanna E L SEL; Sachdev, Rani R; Ellaway, Carolyn C

Publication Date: 2020-11

Variant appearance in text: rs138659167

PubMed Link: 33204589

Variant Present in the following documents:

• Main text
• JMD2-56-3.pdf

View BVdb publication page

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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: rs138659167

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

European Journal Of Human Genetics : Ejhg

Daum, Hagit H; Meiner, Vardiella V; Michaelson-Cohen, Rachel R; Sukenik-Halevy, Rivka R; Zalcberg, Michal Levy ML; Bar-Ziv, Anat A; Weiden, A Tzvi AT; Scher, Sholem Y SY; Shohat, Mordechai M; Zlotogora, Joël J

Publication Date: 2020-07

Variant appearance in text: rs138659167

PubMed Link: 32055014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine

Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2019-12-17

Variant appearance in text: rs138659167

PubMed Link: 31847883

Variant Present in the following documents:

• 13073_2019_702_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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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: rs138659167

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer

Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J

Publication Date: 2019-04-04

Variant appearance in text: rs138659167

PubMed Link: 30947698

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5494.pdf

View BVdb publication page

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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: DHCR7: 964-1G>T; rs138659167

PubMed Link: 27401223

Variant Present in the following documents:

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

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: rs138659167

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 7

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: rs138659167

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs138659167

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Nature Genetics

Syrbe, Steffen S; Hedrich, Ulrike B S UBS; Riesch, Erik E; Djémié, Tania T; Müller, Stephan S; Møller, Rikke S RS; Maher, Bridget B; Hernandez-Hernandez, Laura L; Synofzik, Matthis M; Caglayan, Hande S HS; Arslan, Mutluay M; Serratosa, José M JM; Nothnagel, Michael M; May, Patrick P; Krause, Roland R; Löffler, Heidrun H; Detert, Katja K; Dorn, Thomas T; Vogt, Heinrich H; Krämer, Günter G; Schöls, Ludger L; Mullis, Primus E PE; Linnankivi, Tarja T; Lehesjoki, Anna-Elina AE; Sterbova, Katalin K; Craiu, Dana C DC; Hoffman-Zacharska, Dorota D; Korff, Christian M CM; Weber, Yvonne G YG; Steinlin, Maja M; Gallati, Sabina S; Bertsche, Astrid A; Bernhard, Matthias K MK; Merkenschlager, Andreas A; Kiess, Wieland W; , ; Gonzalez, Michael M; Züchner, Stephan S; Palotie, Aarno A; Suls, Arvid A; De Jonghe, Peter P; Helbig, Ingo I; Biskup, Saskia S; Wolff, Markus M; Maljevic, Snezana S; Schüle, Rebecca R; Sisodiya, Sanjay M SM; Weckhuysen, Sarah S; Lerche, Holger H; Lemke, Johannes R JR

Publication Date: 2015-04

Variant appearance in text: rs138659167

PubMed Link: 25751627

Variant Present in the following documents:

• NIHMS62156-supplement-3.xls, sheet 2

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs138659167

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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: rs138659167

PubMed Link: 24813812

Variant Present in the following documents:

• Main text

View BVdb publication page

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