American Journal of Human Genetics

Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier (Cell Press)

Publications (47)

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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly (2019) Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, et al. Journal article De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Journal article Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes (2019) Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, et al. Journal article OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data (2018) Brechtmann F, Mertes C, Matuseviciute A, Yepez VA, Avsec Z, Herzog M, Bader DM, et al. Journal article 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
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