The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Coban Akdemir, Zeynep, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, Sahin, Ibrahim, Yildirim, Timur, Bayhan, Ilhan A., Bursali, Aysegul, Elmas, Muhsin, Yuksel, Zafer, Ozdemir, Ozturk, Silan, Fatma, Yildiz, Onur, Yesilbas, Osman, Isikay, Sedat, Balta, Burhan, Gu, Shen, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Tsiakas, Konstantinos, Hempel, Maja, Girisha, Katta Mohan, Gul, Davut, Posey, Jennifer E., Elcioglu, Nursel H., Tuysuz, Beyhan, Lupski, James R.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1
Chen, Ying, Gilbert, Melissa A, Grochowski, Christopher M, McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E, Russo, Pierre, Wells, Rebecca G, Loomes, Kathleen M, Spinner, Nancy B, Devoto, Marcella
Published in PLoS genetics (13.08.2018)
Published in PLoS genetics (13.08.2018)
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Journal Article
Complex genomic rearrangements: an underestimated cause of rare diseases
Schuy, Jakob, Grochowski, Christopher M, Carvalho, Claudia M B, Lindstrand, Anna
Published in Trends in genetics (01.11.2022)
Published in Trends in genetics (01.11.2022)
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Journal Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R
Published in Nucleic acids research (28.02.2024)
Published in Nucleic acids research (28.02.2024)
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Journal Article
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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Journal Article
Effects of mixed adsorption layers of 6-mercaptopurine – Triton X-100 and 6-mercaptopurine – Tween 80 on the double layer parameters at the mercury/chlorates(VII) interface
Nosal-Wiercińska, A., Kaliszczak, W., Grochowski, M., Wiśniewska, M., Klepka, T.
Published in Journal of molecular liquids (01.03.2018)
Published in Journal of molecular liquids (01.03.2018)
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Journal Article
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R, Hijazi, Hadia, Grochowski, Christopher M, Gu, Shen, Seeman, Pavel, Woodward, Karen J, Carvalho, Claudia M B, Hobson, Grace M, Lupski, James R
Published in Genome medicine (09.12.2019)
Published in Genome medicine (09.12.2019)
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Journal Article
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.
Published in Frontiers in genetics (26.08.2021)
Published in Frontiers in genetics (26.08.2021)
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Journal Article
Hierarchical predictive control of integrated wastewater treatment systems
Brdys, M.A., Grochowski, M., Gminski, T., Konarczak, K., Drewa, M.
Published in Control engineering practice (01.06.2008)
Published in Control engineering practice (01.06.2008)
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Journal Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Dardas, Zain, Fatih, Jawid M, Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M, Jones, Edward G, Jhangiani, Shalini N, Wehrens, Xander H T, Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Coban-Akdemir, Zeynep, Morris, Shaine A
Published in Genome medicine (03.04.2024)
Published in Genome medicine (03.04.2024)
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Journal Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei
Published in Genome medicine (27.10.2022)
Published in Genome medicine (27.10.2022)
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Journal Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Zhang, Chaofan, Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M. B.
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna
Published in Human mutation (01.11.2020)
Published in Human mutation (01.11.2020)
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Journal Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L., Lupski, James R., Carvalho, Claudia M.B.
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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