A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

Authors: Lavanya, Katta, Mahtani, Karishma, Abbott, Jessica, Jain, Angita, Selvam, Pavalan, Atwal, Herjot, Farres, Houssam, Atwal, Paldeep S.

Source: American journal of medical genetics.Part A. 188(7):2192-2197

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Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

Authors: Selvam, Pavalan, Jain, Angita, Abbott, Jessica, Ahuja, Abhimanyu S., Cheema, Anvir, Bruno, Katelyn A., Atwal, Herjot, Forghani, Irman, Caulfield, Thomas, Atwal, Paldeep S.

Source: Molecular syndromology. 13(4):282-289

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Importance of Family History in the Era of Exome Analysis : A Report of a Family with Multiple Concurrent Genetic Diseases

Authors: Mahtani, Karishma, Park, Diana, Abbott, Jessica, Selvam, Pavalan Panneer, Atwal, Paldeep S.

Source: Human Heredity, 2021 Jan 01. 86(1/4), 28-33.

Access URL: https://www.jstor.org/stable/48650733

Impact of integrated translational research on clinical exome sequencing

Authors: Klee, Eric W. ^*, Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N. ^*

Source: In Genetics in Medicine March 2021 23(3):498-507

Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect

Authors: Richter, John E., Hines, S., Selvam, Pavalan, Atwal, Herjot, Farres, Houssam, Caulfield, Thomas R., Atwal, Paldeep S.

Source: Cancer genetics. 252:107-110

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Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomics

Authors: Determeyer, Peggy, Crowder, Jerome, O'Mahony, Eimear, Esquivel, Bernard, Atwal, Herjot, Atwal, Paldeep S, Rogers, Sara L

Source: Pharmacogenomics. 22(11):693-701

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188649772.0x000001&indx=1&recIds=ETOCvdc_100188649772.0x000001

Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

Authors: Selvam, Pavalan, Jain, Angita, Cheema, Anvir, Atwal, Herjot, Forghani, Irman, Atwal, Paldeep S

Source: American journal of medical genetics.Part A. 185(2):539-543

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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Authors: Armitage, Anna M., Kundra, Monica A., Ghiam, Neda, Atwal, Paldeep S., Morel, Dayna, Hruska, Kathleen S., Torene, Rebecca, Harbour, J. William, Forghani, Irman

Source: American journal of medical genetics.Part A. 185(1):208-212

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112419804.0x000001&indx=1&recIds=ETOCvdc_100112419804.0x000001

Sex differences in inflammation, redox biology, mitochondria and autoimmunity

Authors: Di Florio, Damian N., Sin, Jon, Coronado, Michael J., Atwal, Paldeep S., Fairweather, DeLisa

Source: In Redox Biology April 2020 31

REPLY TO ANNIS ET AL. : Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?

Authors: Slone, Jesse, Luo, Shiyu, Atwal, Paldeep S., Huang, Taosheng

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Jul . 116(30), 14799-14800.

Access URL: https://www.jstor.org/stable/26848288

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Authors: Ahuja, Abhimanyu S., Selvam, Pavalan, Vadlamudi, Charitha, Chopra, Hayley, Richter, John E., Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Mohammaad, Ahmed N., Hines, Stephanie, Davila, Maria C., Atwal, Paldeep S., Caulfield, Thomas R.

Source: Ophthalmic genetics. 41(6):563-569

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REPLY TO LUTZ-BONENGEL ET AL. : Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Authors: Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Feb 01. 116(6), 1823-1824.

Access URL: https://www.jstor.org/stable/26663746

Biparental Inheritance of Mitochondrial DNA in Humans

Authors: Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec . 115(51), 13039-13044.

Access URL: https://www.jstor.org/stable/26574217

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys—Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Authors: Richter, John E., Samreen, Ayesha, Vadlamudi, Charitha, Helmi, Haytham, Mohammad, Ahmed N., Wierenga, Klaas, Hines, Stephanie, Atwal, Paldeep S., Caulfeld, Thomas R.

Source: Medicina. 55(5):1607-1617

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Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification

Authors: Gupta, Aditi, Zimmermann, Michael T., Wang, Haitao, Broski, Stephen M., Sigafoos, Ashley N., Macklin, Sarah K., Urrutia, Raul A., Clark, Karl J., Atwal, Paldeep S., Pignolo, Robert J., Klee, Eric W.

Source: American journal of medical genetics.Part A. 179(9):1764-1777

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087162229.0x000001&indx=1&recIds=ETOCvdc_100087162229.0x000001

Expansion of the clinical spectrum associated with AARS2‐related disorders

Authors: Srivastava, Siddharth, Butala, Ankur, Mahida, Sonal, Richter, John, Mu, Weiyi, Poretti, Andrea, Vernon, Hilary, VanGerpen, Jay, Atwal, Paldeep S., Middlebrooks, Erik H., Zee, David S., Naidu, SakkuBai

Source: American journal of medical genetics.Part A. 179(8):1556-1564

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085867647.0x000001&indx=1&recIds=ETOCvdc_100085867647.0x000001

Physician interpretation of variants of uncertain significance

Authors: Macklin, Sarah K., Jackson, Jessica L., Atwal, Paldeep S., Hines, Stephanie L.

Source: Familial cancer. 18(1):121-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127271771.0x000001&indx=1&recIds=ETOCvdc_100127271771.0x000001

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Authors: Blackburn, Patrick R., Xu, Zhi, Tumelty, Kathleen E., Zhao, Rose W., Monis, William J., Harris, Kimberly G., Gass, Jennifer M., Cousin, Margot A., Boczek, Nicole J., Mitkov, Mario V., Cappel, Mark A., Francomano, Clair A., Parisi, Joseph E., Klee, Eric W., Faqeih, Eissa, Alkuraya, Fowzan S., Layne, Matthew D., McDonnell, Nazli B., Atwal, Paldeep S.

Source: American journal of human genetics. 102(4):696-705

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111473816.0x000001&indx=1&recIds=ETOCvdc_100111473816.0x000001

Holocarboxylase synthetase deficiency pre and post newborn screening

Authors: Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.

Source: In Molecular Genetics and Metabolism Reports June 2016 7:40-44

Molybdenum cofactor deficiency

Authors: Atwal, Paldeep S., Scaglia, Fernando

Source: In Molecular Genetics and Metabolism January 2016 117(1):1-4