Reproductive Technologies and the Risk of Birth Defects
Davies, Michael J, Moore, Vivienne M, Willson, Kristyn J, Van Essen, Phillipa, Priest, Kevin, Scott, Heather, Haan, Eric A, Chan, Annabelle
Published in The New England journal of medicine (10.05.2012)
Published in The New England journal of medicine (10.05.2012)
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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
He, Huiling, Liyanarachchi, Sandya, Akagi, Keiko, Nagy, Rebecca, Li, Jingfeng, Dietrich, Rosemary C., Li, Wei, Sebastian, Nikhil, Wen, Bernard, Xin, Baozhong, Singh, Jarnail, Yan, Pearlly, Alder, Hansjuerg, Haan, Eric, Wieczorek, Dagmar, Albrecht, Beate, Puffenberger, Erik, Wang, Heng, Westman, Judith A., Padgett, Richard A., Symer, David E., de la Chapelle, Albert
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Published in Science (American Association for the Advancement of Science) (08.04.2011)
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A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia
Gray, Belinda, BSc (Med), MBBS, Bagnall, Richard D., PhD, Lam, Lien, BMedSc, PhD, Ingles, Jodie, GradDipGenCouns, MPH, PhD, Turner, Christian, MBBS, Haan, Eric, BMedSc, MBBS, Davis, Andrew, MBBS, MD, FHRS, Yang, Pei-Chi, PhD, Clancy, Colleen E., PhD, Sy, Raymond W., MBBS PhD, Semsarian, Christopher, MBBS, MPH, PhD, FHRS
Published in Heart rhythm (01.08.2016)
Published in Heart rhythm (01.08.2016)
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Phenotypes of AKT3 deletion: A case report and literature review
Gai, Dayu, Haan, Eric, Scholar, Matthew, Nicholl, Jillian, Yu, Sui
Published in American journal of medical genetics. Part A (01.01.2015)
Published in American journal of medical genetics. Part A (01.01.2015)
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Epidemiologic Associations With Cerebral Palsy
O'CALLAGHAN, Michael E, MACLENNAN, Alastair H, GIBSON, Catherine S, MCMICHAEL, Gai L, HAAN, Eric A, BROADBENT, Jessica L, GOLDWATER, Paul N, DEKKER, Gustaaf A
Published in Obstetrics and gynecology (New York. 1953) (01.09.2011)
Published in Obstetrics and gynecology (New York. 1953) (01.09.2011)
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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D, Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A, Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4‐related arteriopathy
Haan, Eric A., Chamalaun, Francois H., Chamuleau, Steven A. J., Arnolda, Leonard F., Slavotinek, John P., Wise, Nadia C., Gunawardane, Dimuth N., Schwarze, Ulrike, Byers, Peter H., Gabb, Genevieve M.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Clinical and molecular spectrum of CHOPS syndrome
Raible, Sarah E., Mehta, Devanshi, Bettale, Chiara, Fiordaliso, Sarah, Kaur, Maninder, Medne, Livija, Rio, Marlene, Haan, Eric, White, Susan M., Cusmano‐Ozog, Kristina, Nishi, Eriko, Guo, Yiran, Wu, Honglin, Shi, Xiaoqing, Zhao, Qingjie, Zhang, Xueqin, Lei, Qi, Lu, Aimei, He, Xiyu, Okamoto, Nobuhiko, Miyake, Noriko, Piccione, Joseph, Allen, Julian, Matsumoto, Naomichi, Pipan, Mary, Krantz, Ian D., Izumi, Kosuke
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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RPGR mutations might cause reduced orientation of respiratory cilia
Bukowy-Bieryłło, Zuzanna, Ziętkiewicz, Ewa, Loges, Niki Tomas, Wittmer, Mariana, Geremek, Maciej, Olbrich, Heike, Fliegauf, Manfred, Voelkel, Katarzyna, Rutkiewicz, Ewa, Rutland, Jonathan, Morgan, Lucy, Pogorzelski, Andrzej, Martin, James, Haan, Eric, Berger, Wolfgang, Omran, Heymut, Witt, Michał
Published in Pediatric pulmonology (01.04.2013)
Published in Pediatric pulmonology (01.04.2013)
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
Javadiyan, Shari, Craig, Jamie E, Sharma, Shiwani, Lower, Karen M, Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P
Published in BMC medical genetics (08.05.2017)
Published in BMC medical genetics (08.05.2017)
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Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Hock, Daniella H., Kikhtyak, Zoya, Semcesen, Liana N., Morimoto, Atsushi, Lee, Sangmoon, Stroud, David A., Gleeson, Joseph G., Haan, Eric A., Gecz, Jozef
Published in Npj genomic medicine (28.01.2022)
Published in Npj genomic medicine (28.01.2022)
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Self-Esteem, Self-Concept, and Quality of Life in Children with Hemiplegic Cerebral Palsy
Russo, Remo N., MBBS, FRACP, FAFRM (RACP), Goodwin, Emma J., BND Hons, Miller, Michelle D., PhD, MNutrDiet, BSc, Haan, Eric A., BmedSc, MBBS, FRACP, Connell, Tim M., BA, PhD, MAPS, Crotty, Maria, FAFRM (RACP) PhD
Published in The Journal of pediatrics (01.10.2008)
Published in The Journal of pediatrics (01.10.2008)
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FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S, Bengani, Hemant, Wilson, David I, Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, Fitzpatrick, David R, Kooy, R Frank
Published in PLoS genetics (01.04.2014)
Published in PLoS genetics (01.04.2014)
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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T, Thompson, Elizabeth M, Haan, Eric, Sue, Carolyn M, Panegyres, Peter K, Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E, Brooks, William S, Schofield, Peter R, Pastor, Pau, Kwok, John B J
Published in PloS one (20.02.2013)
Published in PloS one (20.02.2013)
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Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study
O'Callaghan, Michael E, Maclennan, Alastair H, Gibson, Catherine S, McMichael, Gai L, Haan, Eric A, Broadbent, Jessica L, Goldwater, Paul N, Painter, Jodie N, Montgomery, Grant W, Dekker, Gus A
Published in Pediatrics (Evanston) (01.02.2012)
Published in Pediatrics (Evanston) (01.02.2012)
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef
Published in American journal of human genetics (01.06.2003)
Published in American journal of human genetics (01.06.2003)
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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, Raman, Corbett, Mark A, Smith, Nicholas J C, Jolly, Lachlan A, Tan, Chuan, Keating, Damien J, Duffield, Michael D, Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R, Hoischen, Alexander, Abbott, Kim, Harbord, Michael G, Compton, Alison G, Woenig, Joshua A, Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A, Bahlo, Melanie, Gleeson, Joseph G, Haan, Eric, Gecz, Jozef
Published in Human molecular genetics (01.04.2015)
Published in Human molecular genetics (01.04.2015)
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