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

著者: Bartnikas, Thomas B, Wildt, Sheryl J, Wineinger, Amy E, Schmitz-Abe, Klaus, Markianos, Kyriacos, Cooper, Dale M, Fleming, Mark D
出版事項 2013

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

著者: 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.
出版年 JIMD Rep (2016)

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

著者: 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
出版年 Front Immunol (2018)

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

著者: 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.
出版年 JAMA Neurol (2014)

RINGED SIDEROBLASTS IN β-THALASSEMIA

著者: 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.
出版年 Pediatr Blood Cancer (2016)

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

著者: 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.
出版年 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

著者: 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.
出版年 Cold Spring Harb Mol Case Stud (2016)

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

著者: 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
出版年 JIMD Rep (2015)

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

著者: 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.
出版年 Am J Med Genet A (2018)

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

著者: 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
出版年 Sci Rep (2020)

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

著者: 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.
出版年 Nat Immunol (2020)

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

著者: 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.
出版年 PLoS Genet (2019)

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

著者: 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.
出版年 Eur J Hum Genet (2019)

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

著者: 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.
出版事項 2013

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

著者: 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
出版年 Am J Respir Cell Mol Biol (2017)

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

著者: 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
出版年 Genet Med (2018)

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

著者: 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.
出版年 Blood (2016)

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

著者: 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.
出版年 Blood (2018)

Loss of PCLO function underlies pontocerebellar hypoplasia type III

著者: 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.
出版年 Neurology (2015)

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations

著者: Campagna, Dean R., de Bie, Charlotte I., Schmitz-Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, van Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.
出版事項 2013