Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
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.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
Get full text
Journal Article
Cisplatin induced Mitochondrial DNA damage in dorsal root ganglion neurons
Podratz, Jewel L, Knight, Andrew M, Ta, Lauren E, Staff, Nathan P, Gass, Jennifer M, Genelin, Konstantin, Schlattau, Alexander, Lathroum, Liselle, Windebank, Anthony J
Published in Neurobiology of disease (01.03.2011)
Published in Neurobiology of disease (01.03.2011)
Get full text
Journal Article
Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy
Helgeson, Scott A., Enderby, Cher Y., Moss, John E., Gass, Jennifer M., Zeiger, Tonya K., Burger, Charles D.
Published in Mayo Clinic proceedings. Innovations, quality & outcomes (01.09.2019)
Published in Mayo Clinic proceedings. Innovations, quality & outcomes (01.09.2019)
Get full text
Journal Article
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1
Kaiwar, Charu, Macklin, Sarah K, Gass, Jennifer M, Jackson, Jessica, Klee, Eric W, Hines, Stephanie L, Stauffer, John A, Atwal, Paldeep S
Published in Hereditary cancer in clinical practice (21.07.2017)
Published in Hereditary cancer in clinical practice (21.07.2017)
Get full text
Journal Article
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Atwal, Paldeep S., Caulfield, Thomas R., Gass, Jennifer M., Richter, John E., Blackburn, Patrick R., Harris, Antoneicka L., Mohammad, Ahmed
Published in Case reports in genetics (2018)
Published in Case reports in genetics (2018)
Get full text
Journal Article
Maple syrup urine disease: mechanisms and management
Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto E, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Published in Application of clinical genetics (01.01.2017)
Published in Application of clinical genetics (01.01.2017)
Get full text
Journal Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders
Cooley Coleman, Jessica A, Gass, Jennifer M, Srikanth, Sujata, Pauly, Rini, Ziats, Catherine A, Everman, David B, Skinner, Steven A, Bell, Shannon, Louie, Raymond J, Cascio, Lauren, Patterson, Wesley G, Jones, Julie R, Di Donato, Nataliya, Stevenson, Roger E, Boccuto, Luigi
Published in Human molecular genetics (20.04.2023)
Published in Human molecular genetics (20.04.2023)
Get full text
Journal Article
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
Rutherford, Nicola J, Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M, Finch, Nicole A, Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J, Kuntz, Karen, Crook, Richard J P, Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H, Geschwind, Daniel H, Knopman, David S, Mitsumoto, Hiroshi, Petersen, Ronald C, Cashman, Neil R, Hutton, Mike, Shaw, Christopher E, Boylan, Kevin B, Boeve, Bradley, Graff-Radford, Neill R, Wszolek, Zbigniew K, Caselli, Richard J, Dickson, Dennis W, Mackenzie, Ian R, Petrucelli, Leonard, Rademakers, Rosa
Published in PLoS genetics (01.09.2008)
Published in PLoS genetics (01.09.2008)
Get full text
Journal Article
Histone Deacetylase Inhibitors Enhance Paclitaxel-induced Cell Death in Ovarian Cancer Cell Lines Independent of p53 Status
CHOBANIAN, Nishan H, GREENBERG, Victoria L, GASS, Jennifer M, DESIMONE, Christopher P, VAN NAGELL, John R, ZIMMER, Stephen G
Published in Anticancer research (01.03.2004)
Get full text
Published in Anticancer research (01.03.2004)
Journal Article
Hydrocephaly associated with compound heterozygous alterations in TRAPPC12
Gass, Jennifer M, Head, Barbara B, Shields, Sally M, Stevenson, Roger E, Louie, Raymond J
Published in Birth defects research (01.08.2020)
Published in Birth defects research (01.08.2020)
Get more information
Journal Article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
Blackburn, Patrick R, Zimmermann, Michael T, Gass, Jennifer M, Harris, Kimberly G, Cousin, Margot A, Boczek, Nicole J, Ross, Owen A, Klee, Eric W, Brazis, Paul W, Van Gerpen, Jay A, Atwal, Paldeep S
Published in BMC medical genetics (05.12.2016)
Published in BMC medical genetics (05.12.2016)
Get full text
Journal Article
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Lara‐Velazquez, Montserrat, Perdomo‐Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
Published in Molecular genetics & genomic medicine (01.11.2017)
Published in Molecular genetics & genomic medicine (01.11.2017)
Get full text
Journal Article
Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., Gerpen, Jay A., Atwal, Paldeep S.
Published in Clinical case reports (01.01.2018)
Published in Clinical case reports (01.01.2018)
Get full text
Journal Article
A novel splice site variant in CYP 11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Lara‐Velazquez, Montserrat, Perdomo‐Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
Published in Molecular genetics & genomic medicine (01.11.2017)
Published in Molecular genetics & genomic medicine (01.11.2017)
Get full text
Journal Article
Loss of progranulin and its impact on neuronal function
Gass, Jennifer M, Cook, Casey, Rademakers, Rosa, Lewis, Jada, Petrucelli, Leonard
Published in Alzheimer's & dementia (01.07.2010)
Published in Alzheimer's & dementia (01.07.2010)
Get full text
Journal Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Published in Molecular genetics & genomic medicine (01.05.2017)
Published in Molecular genetics & genomic medicine (01.05.2017)
Get full text
Journal Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR 1
Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Published in Molecular genetics & genomic medicine (01.05.2017)
Published in Molecular genetics & genomic medicine (01.05.2017)
Get full text
Journal Article