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Employment (1)

Broad Institute: Cambridge, Massachusetts, US

Senior Analyst
Employment
Source: Self-asserted source
Lynn Pais

Education and qualifications (1)

University of Michigan: Ann Arbor, Michigan, US

MS Human Genetics
Education
Source: Self-asserted source
Lynn Pais

Works (19)

Evidence Aggregator: AI reasoning applied to rare disease diagnostics

2025-03-13 | Preprint
DOI: 10.1101/2025.03.10.642480
Contributors: Hope Twede; Ashley Mae Conard; Lynn Pais; Samantha Bryen; Emily O’Heir; Greg Smith; Ron Paulsen; Christina A. Austin-Tse; Alex Bloemendal; Cas Simons et al.
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Crossref

Identification of ade novomutation inTLK1associated with a neurodevelopmental disorder and immunodeficiency

2023-08-24 | Preprint
DOI: 10.1101/2023.08.22.23294267
Contributors: Marina Villamor-Payà; María Sanchiz-Calvo; Jordann Smak; Lynn Pais; Malika Sud; Uma Shankavaram; Alysia Kern Lovgren; Christina Austin-Tse; Vijay S Ganesh; Marina Gay et al.
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Crossref

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Human Mutation
2022-04 | Journal article
DOI: 10.1002/humu.24333
Contributors: Daniel Natera‐de Benito; Julie A. Jurgens; Alison Yeung; Irina T. Zaharieva; Adnan Manzur; Stephanie P. DiTroia; Silvio Alessandro Di Gioia; Lynn Pais; Veronica Pini; Brenda J. Barry et al.
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Crossref

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation
2022-03-21 | Journal article
DOI: 10.1002/humu.24366
Contributors: Lynn S. Pais; Hana Snow; Ben Weisburd; Shifa Zhang; Samantha M. Baxter; Stephanie DiTroia; Emily O'Heir; Eleina England; Katherine R. Chao; Gabrielle Lemire et al.
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Crossref

seqr : a web-based analysis and collaboration tool for rare disease genomics

2021-10-28 | Preprint
DOI: 10.1101/2021.10.27.21265326
Contributors: Lynn S. Pais; Hana Snow; Ben Weisburd; Shifa Zhang; Samantha Baxter; Stephanie DiTroia; Emily O’Heir; Eleina England; Katherine Chao; Gabrielle Lemire et al.
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Crossref

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Human mutation
2020-11 | Journal article
DOI: 10.1002/humu.24135
PMID: 33169436
Contributors: Helman G; Compton AG; Hock DH; Walkiewicz M; Brett GR; Pais L; Tan TY; De Paoli-Iseppi R; Clark MB; Christodoulou J et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Neuron
2020-11 | Journal article
DOI: 10.1016/j.neuron.2020.10.035
PMID: 33220177
Contributors: Chai G; Webb A; Li C; Antaki D; Lee S; Breuss MW; Lang N; Stanley V; Anzenberg P; Yang X et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

2020-10 | Preprint
DOI: 10.1101/2020.10.26.20217109
OTHER-ID:

PPR231162
Contributors: Li D; Wang Q; Gong NN; Kurolap A; Feldman HB; Boy N; Brugger M; Grand K; McWalter K; Guillen Sacoto MJ et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

European journal of human genetics : EJHG
2020-09 | Journal article
DOI: 10.1038/s41431-020-00717-5
PMID: 32901138
Contributors: Ghosh SG; Scala M; Beetz C; Helman G; Stanley V; Yang X; Breuss MW; Mazaheri N; Selim L; Hadipour F et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Molecular genetics & genomic medicine
2020-09 | Journal article
DOI: 10.1002/mgg3.1508
PMID: 32969205
PMC: PMC7667328
Contributors: Tan NB; Stapleton R; Stark Z; Delatycki MB; Yeung A; Hunter MF; Amor DJ; Brown NJ; Stutterd CA; McGillivray G et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Development (Cambridge, England)
2020-06 | Journal article
DOI: 10.1242/dev.189183
PMID: 32439764
Contributors: Jones LK; Lam R; McKee KK; Aleksandrova M; Dowling J; Alexander SI; Mallawaarachchi A; Cottle DL; Short KM; Pais L et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

American journal of human genetics
2020-05 | Journal article
DOI: 10.1016/j.ajhg.2020.04.010
PMID: 32413283
PMC: PMC7273534
Contributors: Le TL; Sribudiani Y; Dong X; Huber C; Kois C; Baujat G; Gordon CT; Mayne V; Galmiche L; Serre V et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
2020-05 | Journal article
DOI: 10.1038/s41436-020-0792-7
PMID: 32376980
Contributors: Castilla-Vallmanya L; Selmer KK; Dimartino C; Rabionet R; Blanco-Sánchez B; Yang S; Reijnders MRF; van Essen AJ; Oufadem M; Vigeland MD et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

American journal of human genetics
2020-03 | Journal article
DOI: 10.1016/j.ajhg.2020.02.015
PMID: 32220291
PMC: PMC7118584
Contributors: Tan TY; Sedmík J; Fitzgerald MP; Halevy RS; Keegan LP; Helbig I; Basel-Salmon L; Cohen L; Straussberg R; Chung WK et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Phenotype delineation of ZNF462 related syndrome.

American journal of medical genetics. Part A
2019-07 | Journal article
DOI: 10.1002/ajmg.a.61306
PMID: 31361404
PMC: PMC6935050
Contributors: Kruszka P; Hu T; Hong S; Signer R; Cogné B; Isidor B; Mazzola SE; Giltay JC; van Gassen KLI; England EM et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

American journal of human genetics
2019-05 | Journal article
DOI: 10.1016/j.ajhg.2019.04.002
PMID: 31079899
PMC: PMC6556908
Contributors: Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics
2019-05 | Journal article
DOI: 10.1016/j.ajhg.2019.03.021
PMID: 31079897
PMC: PMC6556837
Contributors: O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid BM et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

2019-03 | Preprint
DOI: 10.1101/566091
OTHER-ID:

PPR72037
Contributors: O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid B et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

Journal of personalized medicine
2018-01 | Journal article
DOI: 10.3390/jpm8010002
PMID: 29301385
PMC: PMC5872076
Contributors: Fossey R; Kochan D; Winkler E; Pacyna JE; Olson J; Thibodeau S; Connolly JJ; Harr M; Behr MA; Prows CA et al.
Source: Self-asserted source
Lynn Pais via Europe PubMed Central
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