Lisa Emrick

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 51 papers. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

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

Brain(2023)10.1093/brain/awac460

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0.992DataRank · unranked

35 citations

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

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

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0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

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0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001

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0DataRank · unranked

36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234

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1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 more

Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration

Developmental Medicine & Child Neurology(2021)10.1111/dmcn.14980

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0DataRank · unranked

50 citations

Allison Gregory, Manju A. Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick +5 more

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

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

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0DataRank · unranked

49 citations

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

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002

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0DataRank · unranked

41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

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34 citations

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

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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

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26 citations

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

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62232

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0DataRank · unranked

17 citations

Ming‐Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock +16 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

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0DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

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

Human Molecular Genetics(2022)10.1093/hmg/ddac085

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17 citations

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

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.03.007

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0DataRank · unranked

14 citations

Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema R. Lalani, Ruben Attali +7 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

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0DataRank · unranked

16 citations

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

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

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0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

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0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 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

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0DataRank · unranked

1 citations

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

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.02.478908

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0DataRank · unranked

0 citations

Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema R. Lalani, Ruben Attali +8 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

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0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

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0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

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0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

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0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034

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0DataRank · unranked

8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

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0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

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0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63399

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0DataRank · unranked

4 citations

Alexandrea Wadley, Chun-Hui Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher +15 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

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0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.007

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0DataRank · unranked

28 citations

Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley +23 more

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108453

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0DataRank · unranked

25 citations

Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi +18 more

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

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0DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

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0DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

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0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Systemic complications of Aicardi Goutières syndrome using real-world data

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108578

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0DataRank · unranked

8 citations

Amanda Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, David Isaacs +14 more

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human Genetics(2024)10.1007/s00439-024-02657-2

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0DataRank · unranked

6 citations

Elizabeth A. Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei‐Owusu +18 more

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever

Neurology Genetics(2024)10.1212/nxg.0000000000200150

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0DataRank · unranked

3 citations

Daniel G. Calame, Song Jiao, Lisa Emrick, Miguel Holmgren, Sho Yano +1 more

Functional genomics and small molecules in mitochondrial neurodevelopmental disorders

Neurotherapeutics(2024)10.1016/j.neurot.2024.e00316

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0DataRank · unranked

9 citations

Lisa Emrick, Daniel G. Calame

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

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0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63845

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0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Lisa Emrick, Jill A. Rosenfeld, Shamika Ketkar, Lindsay C. Burrage +2 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

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0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8

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0DataRank · unranked

8 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.013

N/A

0DataRank · unranked

3 citations

Jefferson C. Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +15 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

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0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64242

N/A

0DataRank · unranked

1 citations

Gail E. Graham, Melissa T. Carter, Maria Kibæk, Christina Fagerberg, Martin J. Larsen +38 more

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

medRxiv(2025)10.1101/2025.01.28.25321295

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0DataRank · unranked

1 citations

Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +16 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848

N/A

0DataRank · unranked

1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

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0DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society(2025)10.1002/cns3.70025

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0DataRank · unranked

0 citations

Sarah Woidill, Russell D’Aiello, Amina Khan, Jacob McCann, Mark Ramos +27 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

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0DataRank · unranked

49 citations

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

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0DataRank · unranked

42 citations

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