Lynn Pais

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.390Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697

Top 47%

0.390DataRank

Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 more

Papers

Driven by 38 papers — median percentile 53. Top paper: “Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling”.

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

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.010

N/A

0.538DataRank · unranked

35 citations

Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois, Geneviève Baujat +27 more

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697

Top 47%

0.390DataRank

Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 more

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

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

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

Development(2020)10.1242/dev.189183

N/A

0DataRank · unranked

33 citations

Rachel Lam, Karen K. McKee, Maya Aleksandrova, John Dowling, Stephen I. Alexander +11 more

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

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature Communications(2021)10.1038/s41467-021-21279-0

N/A

0DataRank · unranked

60 citations

Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville +34 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

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

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

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

Human Mutation(2022)10.1002/humu.24366

N/A

0DataRank · unranked

112 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51612

N/A

0DataRank · unranked

40 citations

Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia Estrella, Emily S. McGaughy +19 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Acta Neuropathologica(2023)10.1007/s00401-023-02551-7

N/A

0DataRank · unranked

12 citations

Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, José C. Milisenda +29 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

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

Neuron(2020)10.1016/j.neuron.2020.10.035

N/A

0DataRank · unranked

59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Journal of Clinical Investigation(2024)10.1172/jci174824

N/A

0DataRank · unranked

28 citations

Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli +34 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

N/A

0DataRank · unranked

6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

Brain(2024)10.1093/brain/awae371

N/A

0DataRank · unranked

5 citations

Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi +36 more

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

iScience(2024)10.1016/j.isci.2024.109984

N/A

0DataRank · unranked

4 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.12.612713

N/A

0DataRank · unranked

2 citations

Paola M. Matos Ruiz, Jessica King, Emma E. Foster, Lindsay Berube, Wai‐Man Chan +23 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity

Insula-revista De Letras Y Ciencias Humanas(2024)10.1101/2024.06.24.24309093

N/A

0DataRank · unranked

0 citations

Donatella Gilio, André Monteiro da Rocha, Lynn Pais, Melanie O’Leary, Heidi L. Rehm +7 more

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Muscle & Nerve(2024)10.1002/mus.28214

N/A

0DataRank · unranked

0 citations

Christine C. Bruels, Audrey L. Daugherty, Elicia Estrella, Seth A. Stafki, Safoora B. Syeda +15 more

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100419

N/A

0DataRank · unranked

2 citations

Sarah L. Stenton, Vijay S Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais +5 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

medRxiv(2023)10.1101/2023.08.22.23294267

N/A

0DataRank · unranked

1 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100014

N/A

0DataRank · unranked

22 citations

Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Rossetti +19 more

Lynn Pais

Indexed papers

Top data-sharing exemplar

Papers