A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2

od Bartnikas, Thomas B, Wildt, Sheryl J, Wineinger, Amy E, Schmitz-Abe, Klaus, Markianos, Kyriacos, Cooper, Dale M, Fleming, Mark D
Izdano 2013

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

od Morton, Sarah U., Neilan, Edward G., Peake, Roy W. A., Shi, Jiahai, Schmitz-Abe, Klaus, Towne, Meghan, Markianos, Kyriacos, Prabhu, Sanjay P., Agrawal, Pankaj B.
Izdano u JIMD Rep (2016)

Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitro

od Sanchez-Schmitz, Guzman, Stevens, Chad R., Bettencourt, Ian A., Flynn, Peter J., Schmitz-Abe, Klaus, Metser, Gil, Hamm, David, Jensen, Kristoffer J., Benn, Christine, Levy, Ofer
Izdano u Front Immunol (2018)

Expanding the Phenotype Associated With the NEFL Mutation Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings

od Agrawal, Pankaj B., Joshi, Mugdha, Marinakis, Nicholas S., Schmitz-Abe, Klaus, Ciarlini, Pedro D. S. C., Sargent, Jane C., Markianos, Kyriacos, De Girolami, Umberto, Chad, David A., Beggs, Alan H.
Izdano u JAMA Neurol (2014)

RINGED SIDEROBLASTS IN β-THALASSEMIA

od Cattivelli, Kim, Campagna, Dean R., Schmitz-Abe, Klaus, Heeney, Matthew M., Yaish, Hassan M., Caruso Brown, Amy E., Kearney, Susan, Walkovich, Kelly, Markianos, Kyriacos, Fleming, Mark D., Neufeld, Ellis J.
Izdano u Pediatr Blood Cancer (2016)

Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1

od Cui, Ye, Keles, Sevgi, Charbonnier, Louis-Marie, Julé, Amélie M., Henderson, Lauren, Celik, Seyma Celikbilek, Reisli, Ismail, Shen, Chen, Xie, Wen Jun, Schmitz-Abe, Klaus, Wu, Hao, Chatila, Talal A.
Izdano u J Allergy Clin Immunol (2019)

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

od Joshi, Mugdha, Anselm, Irina, Shi, Jiahai, Bale, Tejus A., Towne, Meghan, Schmitz-Abe, Klaus, Crowley, Laura, Giani, Felix C., Kazerounian, Shideh, Markianos, Kyriacos, Lidov, Hart G., Folkerth, Rebecca, Sankaran, Vijay G., Agrawal, Pankaj B.
Izdano u Cold Spring Harb Mol Case Stud (2016)

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

od Riley, Lisa G., Rudinger-Thirion, Joëlle, Schmitz-Abe, Klaus, Thorburn, David R., Davis, Ryan L., Teo, Juliana, Arbuckle, Susan, Cooper, Sandra T., Campagna, Dean R., Frugier, Magali, Markianos, Kyriacos, Sue, Carolyn M., Fleming, Mark D., Christodoulou, John
Izdano u JIMD Rep (2015)

De Novo Variant in KIF26B isAssociated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy

od Wojcik, Monica H., Okada, Kyoko, Prabhu, Sanjay P., Nowakowski, Dan W., Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A., Schmitz-Abe, Klaus, Cohen, Julie S, Fatemi, Ali, Shi, Jiahai, Grant, Ellen P., Narayanan, Vinodh, Ho, Hsin-Yi Henry, Agrawal, Pankaj B.
Izdano u Am J Med Genet A (2018)

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

od Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos
Izdano u Sci Rep (2020)

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

od Harb, Hani, Stephen-Victor, Emmanuel, Crestani, Elena, Benamar, Mehdi, Massoud, Amir, Cui, Ye, Charbonnier, Louis-Marie, Arbag, Sena, Baris, Safa, Cunnigham, Amparito, Leyva-Castillo, Juan Manuel, Geha, Raif S., Mousavi, Amirhosein J., Guennewig, Boris, Schmitz-Abe, Klaus, Sioutas, Constantinos, Phipatanakul, Wanda, Chatila, Talal A.
Izdano u Nat Immunol (2020)

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

od O’Connell, Amy E., Gerashchenko, Maxim V., O’Donohue, Marie-Francoise, Rosen, Samantha M., Huntzinger, Eric, Gleeson, Diane, Galli, Antonella, Ryder, Edward, Cao, Siqi, Murphy, Quinn, Kazerounian, Shideh, Morton, Sarah U., Schmitz-Abe, Klaus, Gladyshev, Vadim N., Gleizes, Pierre-Emmanuel, Séraphin, Bertrand, Agrawal, Pankaj B.
Izdano u PLoS Genet (2019)

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

od Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M., Nori, Neeharika, Madden, Jill A., Genetti, Casie A., Wojcik, Monica H., Ponnaluri, Sadhana, Gubbels, Cynthia S., Picker, Jonathan D., O’Donnell-Luria, Anne H., Yu, Timothy W., Bodamer, Olaf, Brownstein, Catherine A., Beggs, Alan H., Agrawal, Pankaj B.
Izdano u Eur J Hum Genet (2019)

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

od Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.
Izdano 2013

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations

od Agrawal, Pankaj B., Wang, Ruobing, Li, Hongmei Lisa, Schmitz-Abe, Klaus, Simone-Roach, Chantelle, Chen, Jingxin, Shi, Jiahai, Louie, Tin, Sheng, Shaohu, Towne, Meghan C., Brainson, Christine F., Matthay, Michael A., Kim, Carla F., Bamshad, Michael, Emond, Mary J., Gerard, Norma P., Kleyman, Thomas R., Gerard, Craig
Izdano u Am J Respir Cell Mol Biol (2017)

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

od Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cope, Heidi, Signer, Rebecca, Martinez-Agosto, Julian A., Shashi, Vandana, Beggs, Alan H., Wheeler, Matthew T., Bernstein, Jonathan A., Bejerano, Gill
Izdano u Genet Med (2018)

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

od Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.
Izdano u Blood (2016)

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

od Heeney, Matthew M., Guo, Dongjing, De Falco, Luigia, Campagna, Dean R., Olbina, Gordana, Kao, Paige P.-C., Schmitz-Abe, Klaus, Rahimov, Fedik, Gutschow, Patrick, Westerman, Keith, Ostland, Vaughn, Jackson, Tracy, Klaassen, Robert E., Markianos, Kyriacos, Finberg, Karin E., Iolascon, Achille, Westerman, Mark, London, Wendy B., Fleming, Mark D.
Izdano u Blood (2018)

Loss of PCLO function underlies pontocerebellar hypoplasia type III

od Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.
Izdano u Neurology (2015)

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

od Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S. K., Vargas, Sara O., Luo, Shiyu, Rosen, Samantha M., Madden, Jill A., Genetti, Casie A., Brabek, Jan, Brownstein, Catherine A., Kazerounian, Shideh, Raby, Benjamin A., Schmitz-Abe, Klaus, Kennedy, John C., Fishman, Martha P., Mullen, Mary P., Taylor, Joan M., Rosel, Daniel, Agrawal, Pankaj B.
Izdano u PLoS Genet (2021)