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

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

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

par 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.
Publié dans JIMD Rep (2016)

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

par 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
Publié dans Front Immunol (2018)

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

par 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.
Publié dans JAMA Neurol (2014)

RINGED SIDEROBLASTS IN β-THALASSEMIA

par 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.
Publié dans Pediatr Blood Cancer (2016)

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

par 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.
Publié dans 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

par 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.
Publié dans Cold Spring Harb Mol Case Stud (2016)

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

par 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
Publié dans JIMD Rep (2015)

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

par 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.
Publié dans Am J Med Genet A (2018)

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

par 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
Publié dans Sci Rep (2020)

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

par 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.
Publié dans Nat Immunol (2020)

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

par 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.
Publié dans PLoS Genet (2019)

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

par 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.
Publié dans Eur J Hum Genet (2019)

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

par 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.
Publié 2013

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

par 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
Publié dans Am J Respir Cell Mol Biol (2017)

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

par 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
Publié dans Genet Med (2018)

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

par 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.
Publié dans Blood (2016)

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

par 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.
Publié dans Blood (2018)

Loss of PCLO function underlies pontocerebellar hypoplasia type III

par 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.
Publié dans Neurology (2015)

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

par 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.
Publié dans PLoS Genet (2021)