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Author/Creator Gordon, Christopher T

1. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Issue 3 (9th April 2022)

Authors:
Guimier, Anne; de Pontual, Loïc; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonne...
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 3(2023)
Page Start:
353
Record Type:
Journal Article
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2. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Issue 12 (2nd November 2011)

Authors:
Benko, Sabina; Gordon, Christopher T; Mallet, Delphine; Sreenivasan, Rajini; Thauvin-Robinet, Christel; Brendehaug, Atle; Thomas, Sophie; Bruland, Ove; David, Michel; Nicolino, Marc; Labalme, Audrey; Sanlaville, Damien; Callier, Patrick; Malan, Valerie; Huet, Frédéric; Molven, Anders; Dijoud, Fré...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 12(2011)
Page Start:
825
Record Type:
Journal Article
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3. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012)

Authors:
Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
737
Record Type:
Journal Article
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4. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013)

Authors:
Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 3(2013)
Page Start:
174
Record Type:
Journal Article
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5. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. (4th December 2020)

Authors:
Martin, Ella M M A; Enriquez, Annabelle; Sparrow, Duncan B; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Duncan, Emma L; Iyer, Kavitha R; Greasby, Joelene A; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clémantine; Amiel, Jeanne; Capri, Yline; Lehalle...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 22(2020)
Page Start:
3662
Record Type:
Journal Article
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