Matthew A. Deardorff

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 28 papers. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders

Journal of Structural Biology(2020)10.1016/j.jsb.2020.107681

N/A

0.533DataRank · unranked

9 citations

Nicholas J. Porter, Christophe Decroos, Matthew S. Lee, P. R. Watson, Sarah E. Raible +4 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0.529DataRank · unranked

33 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

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

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0.529DataRank · unranked

33 citations

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

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

Scientific Reports(2020)10.1038/s41598-020-66978-8

N/A

0.449DataRank · unranked

19 citations

Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff +11 more

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2025)10.1016/j.gim.2025.101480

N/A

0.208DataRank · unranked

3 citations

Aya Abu El Haija, James T. Bennett, Leslie G. Biesecker, Matthew A. Deardorff, Evan R. Hathaway +5 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.11.247080

N/A

0DataRank · unranked

1 citations

Leela Chakravarti Dilley, Charlette Williams, Emilia H. Moscato, Milán Szuperák, Qin Wang +8 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

Science Advances(2021)10.1126/sciadv.abe2597

N/A

0DataRank · unranked

21 citations

Leela Chakravarti Dilley, Charlette Williams, Emilia H. Moscato, Milán Szuperák, Qin Wang +8 more

NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61550

N/A

0DataRank · unranked

8 citations

Petra Werner, Brande Latney, Bryon L. Krock, Avni Santani, Emma Bedoukian +4 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 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

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular Syndromology(2023)10.1159/000530197

N/A

0DataRank · unranked

5 citations

Rebecca Ganetzky, Gerald Wertheim, Cara Skraban, Emma Bedoukian, Alisha Wilkens +7 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Annals of Neurology(2024)10.1002/ana.27045

N/A

0DataRank · unranked

8 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

medRxiv(2024)10.1101/2024.02.22.24302957

N/A

0DataRank · unranked

0 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 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

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Journal of Medical Genetics(2020)10.1136/jmedgenet-2019-106498

N/A

0DataRank · unranked

42 citations

Kelly A. Duffy, Jennifer Richards‐Yutz, Matthew A. Deardorff, Jennifer M. Kalish, Arupa Ganguly +1 more