Jeremy Schwartzentruber
机构: Illumina Artificial Intelligence Lab
每年引用次数
引用次数
引用: 19,864
H-指数: 63
I10-指数 : 108
出版物: 197
De novo mutations in CCND2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
SS Kholmanskikh , RF Hevner , E Sweeney , L Faivre
2014
Stabilizing de novo cyclin D2 mutations suggest a unifying mechanism in PI3K-AKT associated megalencephaly syndromes
DA Parry , KA Giamanco , G Mirzaa , CV Logan
Prodeedings
2014
RESEARCH BRIEF Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
A. Micheil Innes , Jeremy Schwartzentruber , Sarah L. Sawyer , Lisa A. Moreau
2014
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
Natsuhiko Kumasaka , Jeremy Schwartzentruber , Jeremy Schwartzentruber , Toby Johnson
Nature Genetics 53 ( 3) 392 -402
167
2021
Author Correction: Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
Natsuhiko Kumasaka , Jeremy Schwartzentruber , Jeremy Schwartzentruber , Toby Johnson
Nature Genetics 53 ( 4) 585 -586
3
2021
Author Correction: Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
Natsuhiko Kumasaka , Jeremy Schwartzentruber , Jeremy Schwartzentruber , Toby Johnson
Nature Genetics 53 ( 4) 585 -586
3
2021
A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance
Gaunt Tr , Holmes Mv , Holmes Mv , Schwartzentruber J
medRxiv
2021
Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Jeremy Schwartzentruber , Andrey Korshunov , Xiao-Yang Liu , David T. W. Jones
Nature 484 ( 7392) 130 -130
14
2012
Molecular and functional variation in iPSC-derived sensory neurons.
Anna Wilbrey , Magda Bictash , Emma Impey , Lishuang Cao
Nature Genetics 50 ( 1) 54 -61
111
2018
Very low depth whole genome sequencing in complex trait association studies
Arthur Gilly , Karoline Kuchenbaecker , Lorraine Southam , Daniel Suveges
bioRxiv 169789
9
2017
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Michael T. Geraghty , Mary-Ellen Harper , Pranesh Chakraborty , Matthew A. Lines
JIMD reports 30 73 -79
15
2016
Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Emmanuel Martin , Noé Palmic , Sylvia Sanquer , Christelle Lenoir
Nature 511 ( 7509) 370 -370
2014
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase
IARS2
in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
Jeremy Schwartzentruber , Daniela Buhas , Jacek Majewski , Florin Sasarman
Human Mutation 36 ( 2) 281 -281
2015
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes (Feb, 10.1038/s41588-020-00776-w, 2021)
Jeremy Schwartzentruber , Sarah Cooper , Jimmy Z Liu , Inigo Barrio-Hernandez
NATURE GENETICS 53 ( 4) 585 -586
336
2021
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai Masahiro 2 , Manuscript analyses team leader , Manuscript analyses team member: meta-analysis Mehtonen Juha 1 , Manuscript analyses team member: heritability
Nature 600 ( 7889) 472 -477
461
2021
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
Myriam Srour , Jeremy Schwartzentruber , Fadi F Hamdan , Luis H Ospina
American Journal of Human Genetics 90 693 -700
141
2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
Francois P Bernier , Oana Caluseriu , Sarah Ng , Jeremy Schwartzentruber
American Journal of Human Genetics ( 90) 925 -933
226
2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Robert K Koenekoop , Hui Wang , Jacek Majewski , Xia Wang
Nature Genetics 44 1035 -1039
207
2012
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Ghayda M Mirzaa , David A Parry , Andrew E Fry , Kristin A Giamanco
Nature Genetics 46 510 -515
145
2014
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
Laura M McDonell , Ghayda M Mirzaa , Diana Alcantara , Jeremy Schwartzentruber
Nature Genetics 45 556 -562
116
2013