Publications:

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 36007526

Variant Present in the following documents:

• mmc2.xlsx, sheet 8

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: PNPO: R229Q; rs773450573

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: PNPO: 686G>A; R229Q

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: PNPO: 686G>A; Arg229Gln; rs773450573

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: PNPO: 686G>A; Arg229Gln; rs773450573

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine

Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS

Publication Date: 2021-10-13

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 34645488

Variant Present in the following documents:

• 13073_2021_973_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine

Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS

Publication Date: 2021-10-13

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 34645488

Variant Present in the following documents:

• 13073_2021_973_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Hgg Advances

Parikh, Jignesh R JR; Genetti, Casie A CA; Aykanat, Asli A; Brownstein, Catherine A CA; Schmitz-Abe, Klaus K; Danowski, Morgan M; Quitadomo, Andrew A; Madden, Jill A JA; Yacoubian, Calum C; Gain, Richard R; Williams, Tessa T; Meskell, Mary M; Brown, Andrew A; Frith, Alison A; Rockowitz, Shira S; Sliz, Piotr P; Agrawal, Pankaj B PB; Defay, Thomas T; McDonagh, Paul P; Reynders, John J; Lefebvre, Sebastien S; Beggs, Alan H AH

Publication Date: 2021-07

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 34514437

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Jama Pediatrics

Maron, Jill L JL; Kingsmore, Stephen F SF; Wigby, Kristen K; Chowdhury, Shimul S; Dimmock, David D; Poindexter, Brenda B; Suhrie, Kristen K; Vockley, Jerry J; Diacovo, Thomas T; Gelb, Bruce D BD; Stroustrup, Annemarie A; Powell, Cynthia M CM; Trembath, Andrea A; Gallen, Matthew M; Mullen, Thomas E TE; Tanpaiboon, Pranoot P; Reed, Dallas D; Kurfiss, Anne A; Davis, Jonathan M JM

Publication Date: 2021-05-01

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 33587123

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Clinical Genetics

Alghamdi, Malak M; Bashiri, Fahad A FA; Abdelhakim, Marwa M; Adly, Nouran N; Jamjoom, Dima Z DZ; Sumaily, Khalid M KM; Alghanem, Bandar B; Arold, Stefan T ST

Publication Date: 2021-01

Variant appearance in text: PNPO: R229Q

PubMed Link: 32888189

Variant Present in the following documents:

• Main text
• CGE-99-99.pdf

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: PNPO: 686G>A; Arg229Gln; rs773450573

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Pediatric Neurology

Guerriero, Réjean M RM; Patel, Archana A AA; Walsh, Brian B; Baumer, Fiona M FM; Shah, Ankoor S AS; Peters, Jurriaan M JM; Rodan, Lance H LH; Agrawal, Pankaj B PB; Pearl, Phillip L PL; Takeoka, Masanori M

Publication Date: 2017-11

Variant appearance in text: PNPO: 686G>A; R229Q

PubMed Link: 28985901

Variant Present in the following documents:

• Main text

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: PNPO: 686G>A; Arg229Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Annals Of Neurology

Olson, Heather E HE; Kelly, McKenna M; LaCoursiere, Christopher M CM; Pinsky, Rebecca R; Tambunan, Dimira D; Shain, Catherine C; Ramgopal, Sriram S; Takeoka, Masanori M; Libenson, Mark H MH; Julich, Kristina K; Loddenkemper, Tobias T; Marsh, Eric D ED; Segal, Devorah D; Koh, Susan S; Salman, Michael S MS; Paciorkowski, Alex R AR; Yang, Edward E; Bergin, Ann M AM; Sheidley, Beth Rosen BR; Poduri, Annapurna A

Publication Date: 2017-03

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 28133863

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: PNPO: 686G>A; R229Q

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Jimd Reports

Levtova, Alina A; Camuzeaux, Stephane S; Laberge, Anne-Marie AM; Allard, Pierre P; Brunel-Guitton, Catherine C; Diadori, Paola P; Rossignol, Elsa E; Hyland, Keith K; Clayton, Peter T PT; Mills, Philippa B PB; Mitchell, Grant A GA

Publication Date: 2015

Variant appearance in text: PNPO: R229Q

PubMed Link: 25762494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Nature Genetics

Carvill, Gemma L GL; Heavin, Sinéad B SB; Yendle, Simone C SC; McMahon, Jacinta M JM; O'Roak, Brian J BJ; Cook, Joseph J; Khan, Adiba A; Dorschner, Michael O MO; Weaver, Molly M; Calvert, Sophie S; Malone, Stephen S; Wallace, Geoffrey G; Stanley, Thorsten T; Bye, Ann M E AM; Bleasel, Andrew A; Howell, Katherine B KB; Kivity, Sara S; Mackay, Mark T MT; Rodriguez-Casero, Victoria V; Webster, Richard R; Korczyn, Amos A; Afawi, Zaid Z; Zelnick, Nathanel N; Lerman-Sagie, Tally T; Lev, Dorit D; Møller, Rikke S RS; Gill, Deepak D; Andrade, Danielle M DM; Freeman, Jeremy L JL; Sadleir, Lynette G LG; Shendure, Jay J; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Mefford, Heather C HC

Publication Date: 2013-07

Variant appearance in text: PNPO: 686G>A; Arg229Gln

PubMed Link: 23708187

Variant Present in the following documents:

• Main text

View BVdb publication page

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