Biblio

Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM et al..  2019.  The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 181:557-564.

Cappuccio G, Sayou C, Le Tanno P, Tisserant E, Bruel A-L, Kennani SEl, Sa J, Low KJ, Dias C, Havlovicova M et al..  Submitted.  De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. GENETICS IN MEDICINE.

Cappuccio G, Sayou C, Le Tanno P, Tisserant E, Bruel A-L, Kennani SEl, Sa J, Low KJ, Dias C, Havlovicova M et al..  Submitted.  De novoSMARCA2variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. GENETICS IN MEDICINE.

Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, de Vries BBA, Vissers LELM, Nordenskjold M et al..  2021.  Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. GENOME MEDICINE. 13:63.