Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Simpson, Michael A, Irving, Melita D, Asilmaz, Esra, Gray, Mary J, Dafou, Dimitra, Elmslie, Frances V, Mansour, Sahar, Holder, Sue E, Brain, Caroline E, Burton, Barbara K, Kim, Katherine H, Pauli, Richard M, Aftimos, Salim, Stewart, Helen, Kim, Chong Ae, Holder-Espinasse, Muriel, Robertson, Stephen P, Drake, William M, Trembath, Richard C
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Journal Article
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
Poot, Martin, Beyer, Vera, Schwaab, Ira, Damatova, Natalja, van’t Slot, Ruben, Prothero, Jo, Holder, Sue E., Haaf, Thomas
Published in Neurogenetics (01.02.2010)
Published in Neurogenetics (01.02.2010)
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Journal Article
The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1
Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Journal Article
Genitopatellar syndrome: a further case
Brugha, Rossa, Kinali, Maria, Aminu, Kingi, Bridges, Nicola, Holder, Sue E
Published in Clinical dysmorphology (01.07.2011)
Published in Clinical dysmorphology (01.07.2011)
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Journal Article
Keipert syndrome: two further cases and review of the literature
Nik-Zainal, Serena, Holder, Sue E, Cruwys, Michelle, Hall, Christine M, Shaw-Smith, Charles
Published in Clinical dysmorphology (01.07.2008)
Published in Clinical dysmorphology (01.07.2008)
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Journal Article
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)
Published in Genome medicine (28.02.2019)
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Journal Article
CHRNG genotype–phenotype correlations in the multiple pterygium syndromes
Vogt, Julie, Morgan, Neil V, Rehal, Pauline, Faivre, Laurence, Brueton, Louise A, Becker, Kristin, Fryns, Jean-Pierre, Holder, Sue, Islam, Lily, Kivuva, Emma, Lynch, Sally Ann, Touraine, Renaud, Wilson, Louise C, MacDonald, Fiona, Maher, Eamonn R
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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Journal Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder, Jr, J, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (25.03.2019)
Published in Genome medicine (25.03.2019)
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Journal Article
Molecular study of 33 families with Fraser syndrome new data and mutation review
van Haelst, M.M., Maiburg, M., Baujat, G., Jadeja, S., Monti, E., Bland, E., Pearce, K., Hennekam, R.C., Scambler, P.J.
Published in American journal of medical genetics. Part A (01.09.2008)
Published in American journal of medical genetics. Part A (01.09.2008)
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Journal Article
Caudal appendage in focal dermal hypoplasia (Goltz syndrome)
Petrides, George, Bhat, Meena, Holder, Sue, Wakeling, Emma
Published in Clinical dysmorphology (01.04.2008)
Published in Clinical dysmorphology (01.04.2008)
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Journal Article
From our readers Caring for Georgia's kids An obligation to educate
Palm, Angela, ALAN L. KELING Douglasville, LINDY AGEL DAY Stone Mountain, SUE HOLDER Roswell, BAMBI OWENS Cumming, AVEN Roswell, CARL M, REN DAVIS Atlanta, Jeffrey, Christina, JOHN EVINS Atlanta, WIESNER Atlanta, NANCY K
Published in The Atlanta journal-constitution (2001) (09.03.1996)
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Published in The Atlanta journal-constitution (2001) (09.03.1996)
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