American Journal of Human Genetics
Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier (Cell Press)
Publications (43)
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018)
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al.
Journal article
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior (2018)
De Brouwer APM, Abou Jamra R, Koertel N, Soyris C, Polla DL, Safra M, Zisso A, et al.
Journal article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al.
Journal article
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Journal article
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy (2017)
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, Genin EC, et al.
Journal article
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017)
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al.
Journal article
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017)
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al.
Journal article
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine (2016)
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, et al.
Journal article
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation (2016)
Ghoussaini M, French JD, Michailidou K, Nord S, Beesley J, Canisus S, Hillman KM, et al.
Journal article
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (2016)
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, et al.
Journal article, Erratum