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

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

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

por 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.
Publicado en JIMD Rep (2016)

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

por 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
Publicado en Front Immunol (2018)

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

por 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.
Publicado en JAMA Neurol (2014)

RINGED SIDEROBLASTS IN β-THALASSEMIA

por 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.
Publicado en Pediatr Blood Cancer (2016)

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

por 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.
Publicado en 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

por 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.
Publicado en Cold Spring Harb Mol Case Stud (2016)

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

por 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
Publicado en JIMD Rep (2015)

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

por 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.
Publicado en Am J Med Genet A (2018)

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

por 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
Publicado en Sci Rep (2020)

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

por 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.
Publicado en Nat Immunol (2020)

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

por 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.
Publicado en PLoS Genet (2019)

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

por 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.
Publicado en Eur J Hum Genet (2019)

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

por 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.
Publicado 2013

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

por 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
Publicado en Am J Respir Cell Mol Biol (2017)

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

por 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
Publicado en Genet Med (2018)

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

por 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.
Publicado en Blood (2016)

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

por 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.
Publicado en Blood (2018)

Loss of PCLO function underlies pontocerebellar hypoplasia type III

por 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.
Publicado en Neurology (2015)

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

por 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.
Publicado en PLoS Genet (2021)