Molecular-phylogenetic characterization of microbial communities imbalances in the small intestine of dogs with inflammatory bowel disease
Xenoulis, Panagiotis G, Palculict, Blake, Allenspach, Karin, Steiner, Jörg M, Van House, Angela M, Suchodolski, Jan S
Published in FEMS microbiology ecology (01.12.2008)
Published in FEMS microbiology ecology (01.12.2008)
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Journal Article
Molecular characterization of the cloacal microbiota of wild and captive parrots
Xenoulis, Panagiotis G., Gray, Patricia L., Brightsmith, Donald, Palculict, Blake, Hoppes, Sharman, Steiner, Jörg M., Tizard, Ian, Suchodolski, Jan S.
Published in Veterinary microbiology (15.12.2010)
Published in Veterinary microbiology (15.12.2010)
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De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Buratti, Julien, Ji, Lei, Keren, Boris, Lee, Youngha, Booke, Stephanie, Erdin, Serkan, Kim, Soo Yeon, Palculict, Timothy Blake, Meiner, Vardiella, Chae, Jong Hee, Woods, Christopher Geoffrey, Tam, Allison, Héron, Delphine, Cong, Feng, Harel, Tamar
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
Lebo, Matthew, Steeves, Marcie, Benson, Katherine, Conlin, Laura, Ganapathi, Mythily, Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, McGoldrick, Kelly, Palculict, Blake, Rehm, Heidi, Sergouniotis, Panagiotis, Schilit, Samantha, Bayrak-Toydemir, Pinar, Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying Zhang, Schmidt, Ryan
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature
Albokhari, Daniah, Pritchard, Amanda Barone, Beil, Adelyn, Muss, Candace, Bupp, Caleb, Grange, Dorothy K., Delplancq, Geoffroy, Heeley, Jennifer, Zuteck, Melissa, Morrow, Michelle M., Kuentz, Paul, Palculict, Timothy Blake, Hoover‐Fong, Julie E.
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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Journal Article
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Schmidt, Ryan J., Steeves, Marcie, Bayrak-Toydemir, Pinar, Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Ganapathi, Mythily, Garcia, John, Gollob, Michael H., Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, Maston, Glenn, McGoldrick, Kelly, Palculict, T. Blake, Pesaran, Tina, Pollin, Toni I., Qian, Emily, Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying, Lebo, Matthew S., Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
Efthymiou, Stephanie, Han, Wenyan, Ilyas, Muhammad, Li, Jun, Yu, Yichao, Scala, Marcello, Malintan, Nancy T, Ilyas, Muhammad, Vavouraki, Nikoleta, Mankad, Kshitij, Maroofian, Reza, Rocca, Clarissa, Salpietro, Vincenzo, Lakhani, Shenela, Mallack, Eric J, Palculict, Timothy Blake, Li, Hong, Zhang, Guojun, Zafar, Faisal, Rana, Nuzhat, Takashima, Noriko, Matsunaga, Hayato, Manzoni, Claudia, Striano, Pasquale, Lythgoe, Mark F, Aruga, Jun, Lu, Wei, Houlden, Henry
Published in Frontiers in molecular neuroscience (01.03.2024)
Published in Frontiers in molecular neuroscience (01.03.2024)
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Journal Article
Molecular-phylogenetic characterization of microbial communities imbalances in the small intestine of dogs with inflammatory bowel disease: Small intestinal microbial communities in canine IBD
Xenoulis, Panagiotis G., Palculict, Blake, Allenspach, Karin, Steiner, Jörg M., Van House, Angela M., Suchodolski, Jan S.
Published in FEMS microbiology ecology (01.12.2008)
Published in FEMS microbiology ecology (01.12.2008)
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Journal Article
Molecular-phylogenetic characterization of microbial communities imbalances in the small intestine of dogs with inflammatory bowel disease: Gut microbiology: the black box and beyond
XENOULIS, Panagiotis G, PALCULICT, Blake, ALLENSPACH, Karin, STEINER, Jörg M, VAN HOUSE, Angela M, SUCHODOLSKI, Jan S
Published in FEMS microbiology ecology (2008)
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Published in FEMS microbiology ecology (2008)
Journal Article
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Paul, Maimuna S., Duncan, Anna R., Genetti, Casie A., Pan, Hongling, Jackson, Adam, Grant, Patricia E., Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P., Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B., Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobias, AlHamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexis, Mullegama, Sureni V., Palculict, Timothy Blake, Calame, Daniel G., Schwan, Katharina, Aycinena, Alicia R.P., Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Journal Article
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
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Journal Article
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Journal Article
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Published in Acta neuropathologica (01.08.2023)
Published in Acta neuropathologica (01.08.2023)
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Journal Article
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Paul, Maimuna S., Duncan, Anna R., Genetti, Casie A., Pan, Hongling, Jackson, Adam, Grant, Patricia E., Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P., Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein Tobias B. Haack, Ulrike, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Jamra, Rami Abou, Bartolomaeus, Tobias, AlHamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexis, Mullegama, Sureni V., Palculict, Timothy Blake, Calame, Daniel G., Schwan, Katharina, Aycinena, Alicia R.P., Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.
Published in American journal of human genetics (02.03.2023)
Published in American journal of human genetics (02.03.2023)
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Journal Article
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
Ahmad, Natalie, Fazeli, Walid, Schließke, Sophia, Lesca, Gaetan, Gokce-Samar, Zeynep, Mekbib, Kedous Y., Jin, Sheng Chih, Burton, Jennifer, Hoganson, George, Petersen, Andrea, Gracie, Sara, Granger, Leslie, Bartels, Enrika, Oppermann, Henry, Kundishora, Adam, Till, Marianne, Milleret-Pignot, Clara, Dangerfield, Shane, Viskochil, David, Anderson, Katherine J., Palculict, Timothy Blake, Schnur, Rhonda E., Wentzensen, Ingrid M., Tiller, George E., Kahle, Kristopher T., Kunz, Wolfram S., Burkart, Sebastian, Simons, Matias, Sticht, Heinrich, Abou Jamra, Rami, Neuser, Sonja
Published in Pediatric neurology (01.11.2023)
Published in Pediatric neurology (01.11.2023)
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Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumor using whole genome sequencing
Huff, Vicki, Palculict, Timothy Blake, Ruteshouser, E. Cristy, Fan, Yu, Wang, Wenyi, Strong, Louise
Published in Journal of medical genetics (13.11.2015)
Published in Journal of medical genetics (13.11.2015)
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