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Lynn Pais
Lynn Pais
Broad Institute of MIT and Harvard
Verified email at broadinstitute.org
Title
Cited by
Cited by
Year
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
662019
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
622021
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ...
Molecular genetics & genomic medicine 8 (11), e1508, 2020
612020
Ethical considerations related to return of results from genomic medicine projects: the eMERGE network (phase III) experience
R Fossey, D Kochan, E Winkler, JE Pacyna, J Olson, S Thibodeau, ...
Journal of personalized medicine 8 (1), 2, 2018
562018
seqr: A web‐based analysis and collaboration tool for rare disease genomics
LS Pais, H Snow, B Weisburd, S Zhang, SM Baxter, S DiTroia, E O'Heir, ...
Human mutation 43 (6), 698-707, 2022
472022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
472022
Bi-allelic ADARB1 variants associated with microcephaly, intellectual disability, and seizures
TY Tan, J Sedmík, MP Fitzgerald, RS Halevy, LP Keegan, I Helbig, ...
The American Journal of Human Genetics 106 (4), 467-483, 2020
422020
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
G Chai, A Webb, C Li, D Antaki, S Lee, MW Breuss, N Lang, V Stanley, ...
Neuron 109 (2), 241-256. e9, 2021
332021
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder
LK Jones, R Lam, KK McKee, M Aleksandrova, J Dowling, SI Alexander, ...
Development 147 (21), dev189183, 2020
322020
POLRMT mutations impair mitochondrial transcription causing neurological disease
M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ...
Nature communications 12 (1), 1135, 2021
312021
Bi-allelic variations of SMO in humans cause a broad spectrum of developmental anomalies due to abnormal hedgehog signaling
TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, ...
The American Journal of Human Genetics 106 (6), 779-792, 2020
272020
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
262023
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ...
Genetics in Medicine 22 (7), 1215-1226, 2020
252020
Phenotype delineation of ZNF462 related syndrome
P Kruszka, T Hu, S Hong, R Signer, B Cogné, B Isidor, SE Mazzola, ...
American Journal of Medical Genetics Part A 179 (10), 2075-2082, 2019
252019
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
D Li, Q Wang, NN Gong, A Kurolap, HB Feldman, N Boy, M Brugger, ...
Science advances 7 (20), eabf2066, 2021
242021
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
M Broly, BV Polevoda, KM Awayda, N Tong, J Lentini, T Besnard, W Deb, ...
The American Journal of Human Genetics 109 (4), 587-600, 2022
232022
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10
G Helman, AG Compton, DH Hock, M Walkiewicz, GR Brett, L Pais, ...
Human mutation 42 (1), 19-24, 2021
232021
Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features
M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ...
The American Journal of Human Genetics 104 (6), 1073-1087, 2019
232019
A form of muscular dystrophy associated with pathogenic variants in JAG2
S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ...
The American Journal of Human Genetics 108 (5), 840-856, 2021
222021
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes
M Zech, R Kopajtich, K Steinbrücker, C Bris, N Gueguen, RG Feichtinger, ...
Annals of neurology 91 (2), 225-237, 2022
202022
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