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The Journal of Clinical Endocrinology and Metabolism|April 17, 2018
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell SyndromeSophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
Nature Medicine|September 5, 2017
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomasElodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.
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