Paldeep S Atwal (Paldeep Atwal)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 24

Top Venues

Case reports in genetics

Molecular genetics & genomic medicine

Clinical case reports

Human genome variation

Atwal Clinic

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Atwal Clinic Jan 01 2018

United States

Director / Geneticist

Mayo Clinic - Jan 31 2018

United States

Clinical & Medical Biochemical Geneticist :: Clinical Genomics

Publications

Christine M Formea, Paldeep S Atwal, Kathryn Meintsma, Martin Dawes, Gary Marchant, Ben L Kong, J Shawn Jones, Sara L Rogers
STRIPE partners in precision medicine series: provider perspective. The pharmacogenomics journal 24 (5) (2024)
Katta Lavanya, Karishma Mahtani, Jessica Abbott, Angita Jain, Pavalan Selvam, Herjot Atwal, Houssam Farres, Paldeep S Atwal
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features. American journal of medical genetics. Part A 188 (7) (2022)
Angita Jain, Nadine Norton, Katelyn A Bruno, Leslie T Cooper, Paldeep S Atwal, DeLisa Fairweather
Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy. Journal of clinical medicine 10 (11) (2021)
Mathew A Coban, Patrick R Blackburn, Murray L Whitelaw, Mieke M van Haelst, Paldeep S Atwal, Thomas R Caulfield
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. Biomolecules 10 (9) (2020)
Pavalan Selvam, Angita Jain, Anvir Cheema, Herjot Atwal, Irman Forghani, Paldeep S Atwal
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth. American journal of medical genetics. Part A 185 (2) (2020)
John E Richter, Charitha Vadlamudi, Sarah K Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N Mohammad, Stephanie L Hines, Jay A VanGerpen, Paldeep S Atwal, Thomas R Caulfield
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling. Case reports in genetics 2020 (2020)
Sarah K Macklin, Katelyn A Bruno, Charitha Vadlamudi, Haytham Helmi, Ayesha Samreen, Ahmed N Mohammad, Stepahnie Hines, Paldeep S Atwal, Thomas R Caulfield
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction. Case reports in medicine 2020 (2020)
Paldeep S Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx, Peter Milner
The infantile neuroaxonal dystrophy rating scale (INAD-RS). Orphanet journal of rare diseases 15 (1) (2020)
John E Richter, Michael T Zimmermann, Patrick R Blackburn, Ahmed N Mohammad, Eric W Klee, Laura M Pollard, Colleen F Macmurdo, Paldeep S Atwal, Thomas R Caulfield
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Molecular genetics & genomic medicine 6 (6) (2018)
Antoneicka L Harris, Patrick R Blackburn, John E Richter, Jennifer M Gass, Thomas R Caulfield, Ahmed N Mohammad, Paldeep S Atwal
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. Case reports in genetics 2018 (2018)
Stephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, Nabeel Aslam, Ahmed N Mohammad, Paldeep S Atwal
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human genome variation 5 (2018)
Ahmed Mohammad, Haytham Helmi, Paldeep S Atwal
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm. Case reports in genetics 2018 (2018)
Thomas R Caulfield, John E Richter, Emily E Brown, Ahmed N Mohammad, Daniel P Judge, Paldeep S Atwal
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. Molecular genetics & genomic medicine (2018)
John E Richter, Hector G Robles, Elizabeth Mauricio, Ahmed Mohammad, Paldeep S Atwal, Thomas R Caulfield
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype. Human genome variation 5 (2018)
Stephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, Nabeel Aslam, Ahmed N Mohammad, Paldeep S Atwal
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human genome variation 5 (2018)
Jennifer M Gass, Madeline Tatro, Patrick R Blackburn, Stephanie Hines, Paldeep S Atwal
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Clinical case reports 5 (2) (2017)
Sofia Garcia, Michael Schuh, Anvir Cheema, Herjot Atwal, Paldeep S Atwal
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer. Case reports in genetics 2017 (2017)
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1. Hereditary cancer in clinical practice 15 (2017)
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Molecular genetics & genomic medicine 5 (3) (2017)
Christan D Santos, Robert A Ratzlaff, Jennifer C Meder, Paldeep S Atwal, Nicole E Joyce
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again. Case reports in critical care 2017 (2017)
Jennifer M Gass, Patrick R Blackburn, Jessica Jackson, Sarah Macklin, Jay van Gerpen, Paldeep S Atwal
Expanded phenotype in a patient with spastic paraplegia 7. Clinical case reports 5 (10) (2017)
Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, Jennifer M Gass, Thomas R Caulfield, Paldeep S Atwal
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. Molecular genetics & genomic medicine 5 (6) (2017)
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case reports in genetics 2017 (2017)
Natasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, Jennifer M Gass, John Richter, Herjot K Atwal, Jay A van Gerpen, Paldeep S Atwal
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical case reports 6 (1) (2017)

Paldeep S Atwal.css-eqlu8i{font-size:small;padding-left:4px;} (Paldeep Atwal)

Publication Activity (10 Years)

Top Topics

Top Venues

Paldeep S Atwal (Paldeep Atwal)