Manish J. Butte

Also affiliated with UCLA Health, ENT and Allergy, Center for Rheumatology

Immunology and MicrobiologyBiochemistry, 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 74 papers. Top paper: “Prior diagnoses and medications as risk factors for COVID-19 in a Los Angeles Health System”.

Prior diagnoses and medications as risk factors for COVID-19 in a Los Angeles Health System

medRxiv(2020)10.1101/2020.07.03.20145581

N/A

2.4DataRank · unranked

55 citations

Yi Ding, Malika Freund, Ruth Johnson, Tommer Schwarz, Julie M. Yabu +8 more

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

Journal of Clinical Immunology(2020)10.1007/s10875-020-00865-9

N/A

2.1DataRank · unranked

58 citations

Nicola Wright, Natalia S. Chaimowitz, Blachy J. Dávila Saldaña, Holly Miller, Michael D. Keller +54 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Genome Medicine(2023)10.1186/s13073-023-01173-8

N/A

1.5DataRank · unranked

78 citations

Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner +95 more

Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples

Nature Biomedical Engineering(2021)10.1038/s41551-021-00754-5

N/A

0.655DataRank · unranked

78 citations

Laila Sathe, Chetan Munugala, Eric M. Jones, Molly Gasperini, Nathan B. Lubock +36 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

N/A

0.639DataRank · unranked

70 citations

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

N/A

0.605DataRank · unranked

18 citations

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

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

Nature Immunology(2022)10.1038/s41590-022-01271-6

N/A

0.561DataRank · unranked

41 citations

Boglárka Ujházi, Péter Blazsó, José Luís Herrera, Christopher M. Tipton, Tomoki Kawai +45 more

Common Variable Immunodeficiency Patient Fecal Microbiota Transplant Recapitulates Gut Dysbiosis

Research Square(2023)10.21203/rs.3.rs-2640584/v1

N/A

0.519DataRank · unranked

8 citations

Anita Y. Voigt, Margaret E. Conner, Alton G. Swennes, Stephanie Fowler, Chadi A. Calarge +10 more

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy

Frontiers in Immunology(2020)10.3389/fimmu.2020.601584

N/A

0.375DataRank · unranked

6 citations

Shirley Y. Jiang, Stanley F. Nelson, Hane Lee, Kavitha Prabaker, Jennifer L. Baker +3 more

De novo variants in DENND5B cause a neurodevelopmental disorder

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

N/A

0.345DataRank · unranked

9 citations

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

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100300

N/A

0.306DataRank · unranked

6 citations

Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett +79 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

N/A

0.292DataRank · unranked

6 citations

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

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Pre-existing conditions in Hispanics/Latinxs that are COVID-19 risk factors

iScience(2021)10.1016/j.isci.2021.102188

N/A

0DataRank · unranked

19 citations

Yi Ding, Malika Freund, Ruth Johnson, Tommer Schwarz, Julie M. Yabu +34 more

Expanding the potential genes of inborn errors of immunity through protein interactions

BMC Genomics(2021)10.1186/s12864-021-07909-3

N/A

0DataRank · unranked

4 citations

Manish J. Butte, Humza A. Khan

Expanding the Potential Genes of Inborn Errors of Immunity through Protein Interactions

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.10.443508

N/A

0DataRank · unranked

1 citations

Manish J. Butte, Humza A. Khan

Tuning immunity through tissue mechanotransduction

Nature reviews. Immunology(2022)10.1038/s41577-022-00761-w

N/A

0DataRank · unranked

418 citations

Juliet M. Bartleson, Sergei Butenko, Valentina Alonso, Wendy F. Liu, Daniel A. Winer +2 more

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

The Journal of Experimental Medicine(2022)10.1084/jem.20220514

N/A

0DataRank · unranked

130 citations

Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer +95 more

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

The Journal of Experimental Medicine(2022)10.1084/jem.20220131

N/A

0DataRank · unranked

117 citations

Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano +94 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

PLoS Genetics(2022)10.1371/journal.pgen.1010367

N/A

0DataRank · unranked

67 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

The Journal of Experimental Medicine(2022)10.1084/jem.20220202

N/A

0DataRank · unranked

56 citations

Zhiyong Liu, Qian Zhang, Marcela Moncada‐Vélez, Laura Covill, Peng Zhang +94 more

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

Genome Medicine(2022)10.1186/s13073-022-01106-x

N/A

0DataRank · unranked

51 citations

Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu +21 more

Systemic enhancement of antitumour immunity by peritumourally implanted immunomodulatory macroporous scaffolds

Nature Biomedical Engineering(2022)10.1038/s41551-022-00977-0

N/A

0DataRank · unranked

39 citations

Mohammad Mahdi Hasani‐Sadrabadi, Timothy J. Thauland, Sundeep G. Keswani, Song Li, Louis‐S. Bouchard +2 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

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

0DataRank · unranked

1 citations

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

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

medRxiv(2022)10.1101/2022.10.22.22281221

N/A

0DataRank · unranked

10 citations

Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang +95 more

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

medRxiv(2022)10.1101/2022.03.28.22273040

N/A

0DataRank · unranked

7 citations

Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas, Simone Furini +95 more

Complicated Common Variable Immunodeficiency is Driven by Aberrant IL-10/IL-21 Signaling and Predisposed Polygenic Risk

medRxiv(2022)10.1101/2022.06.20.22276681

N/A

0DataRank · unranked

1 citations

Utkucan Acar, Alexis V Stephens, Timothy J. Thauland, Manish J. Butte, Humza A. Khan

Electronic health record signatures identify undiagnosed patients with Common Variable Immunodeficiency Disease

medRxiv(2022)10.1101/2022.08.03.22278352

N/A

0DataRank · unranked

1 citations

Alexis V. Stephens, Sergey Knyazev, Lisa A. Kohn, Malika Freund, Leroy Bondhus +7 more

Humanized mice bearing CRISPR/Cas9 Disruption of Signal Transducer and Activator of Transcription 1 (STAT1) to Model Primary Immunodeficiency

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.20.496920

N/A

0DataRank · unranked

0 citations

Timothy J. Thauland, Humza A. Khan, Manish J. Butte, Jennifer L. Aron

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

The Journal of Experimental Medicine(2023)10.1084/jem.20220170

N/A

0DataRank · unranked

56 citations

Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé‐Violán, Àngela Deyà‐Martínez +92 more

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.08.036

N/A

0DataRank · unranked

55 citations

Guangping Sun, Hiroto Nakano, Elizabeth Schmitz, Anthony Cruz, Charles G. Fisher +91 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

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

N/A

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

N/A

0DataRank · unranked

8 citations

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

N/A

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

N/A

0DataRank · unranked

6 citations

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

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 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

N/A

0DataRank · unranked

37 citations

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

Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease

Science Translational Medicine(2024)10.1126/scitranslmed.ade4510

N/A

0DataRank · unranked

32 citations

Alexis V. Stephens, Rachel Mester, Sergey Knyazev, Lisa A. Kohn, Malika Freund +9 more

Artificial Intelligence and Machine Learning for Inborn Errors of Immunity: Current State and Future Promise

The Journal of Allergy and Clinical Immunology In Practice(2024)10.1016/j.jaip.2024.08.012

N/A

0DataRank · unranked

16 citations

Aaron Chin, Manish J. Butte, Nicholas L. Rider, Alexandra K. Martinson

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +89 more

Harnessing Biomaterials to Amplify Immunity in Aged Mice through T Memory Stem Cells

ACS Nano(2024)10.1021/acsnano.3c08559

N/A

0DataRank · unranked

10 citations

Fatemeh Sadat Majedi, Jana Zárubová, Timothy J. Thauland, Vaithilingaraja Arumugaswami, Tzung K. Hsiai +4 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 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

N/A

0DataRank · unranked

0 citations

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

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Science Immunology(2025)10.1126/sciimmunol.adq1697

N/A

0DataRank · unranked

16 citations

Kerry Dobbs, Ottavia M. Delmonte, Andrew J. Martins, Francesca Pala, Tomoki Kawai +95 more

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting

Journal of Allergy and Clinical Immunology(2025)10.1016/j.jaci.2025.09.002

N/A

0DataRank · unranked

2 citations

Lisa Bastarache, Luiza C. Campos, Gerard Carot-Sans, Aaron Chin, Rumi Chunara +38 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

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

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

N/A

0DataRank · unranked

1 citations

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

Gut dysbiosis patterns in CVID patients with noninfectious complications observed in a germ-free mouse model through fecal microbiota transplantation

Journal of Human Immunity(2025)10.70962/jhi.20250040

N/A

0DataRank · unranked

1 citations

Anita Y. Voigt, Margaret E. Conner, Alton G. Swennes, Stephanie Fowler, Chadi A. Calarge +10 more

Hyaluronan Accumulates in Inflamed Lymph Nodes and Promotes B‐Cell Activation

Proteoglycan Research(2025)10.1002/pgr2.70031

N/A

0DataRank · unranked

1 citations

Nadine Nagy, Gernot Kaber, Payton L. Marshall, Naomi L. Haddock, Everett Meyer +6 more

Type-2 immune skewing in patients with disseminated coccidioidomycosis

medRxiv(2025)10.1101/2025.09.26.25336729

N/A

0DataRank · unranked

2 citations

Smriti S. Nagarajan, Alexis V Stephens, Samantha L. Jensen, Anviksha Srivastava, Miguel A. Moreno Lastre +9 more

Pluripotent stem cell–derived extracellular vesicles for systemic immune modulation in diabetes therapy

Research Square(2025)10.21203/rs.3.rs-6415252/v1

N/A

0DataRank · unranked

1 citations

Jana Zárubová, Mohammad Mahdi Hasani‐Sadrabadi, Yutong Wu, Graciel Diamante, Jenny Cheng +15 more

Factors associated with and kinetics of anti–IFN-α autoantibodies in RAG1/2 deficiency

Journal of Allergy and Clinical Immunology Global(2025)10.1016/j.jacig.2025.100521

N/A

0DataRank · unranked

0 citations

David Evan Potts, Bijun Sun, Marta Toth, Boglárka Ujházi, Svetlana Sharapova +49 more

Mechanosensing through YAP controls T cell activation and metabolism

The Journal of Experimental Medicine(2020)10.1084/jem.20200053

N/A

0DataRank · unranked

140 citations

Fatemeh Sadat Majedi, Timothy J. Thauland, Manish J. Butte, Kevin Meng

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

Blood Advances(2025)10.1182/bloodadvances.2025017243

N/A

0DataRank · unranked

0 citations

Agustin A. Gil Silva, Natchanun Klangkalya, Ana Esteve‐Solé, Shubham Goel, Julie E. Niemela +48 more

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

Cell(2020)10.1016/j.cell.2020.05.016

N/A

0DataRank · unranked

235 citations

Helen C. Su, Laurent Abel, Alessandro Aiuti, Saleh Al‐Muhsen, Andrés A. Arias +59 more

T-cell activation is modulated by the 3D mechanical microenvironment

Biomaterials(2020)10.1016/j.biomaterials.2020.120058

N/A

0DataRank · unranked

129 citations

Mohammad Mahdi Hasani‐Sadrabadi, Timothy J. Thauland, Song Li, Louis‐S. Bouchard, Manish J. Butte +1 more

CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells

Science Advances(2020)10.1126/sciadv.aaz0571

N/A

0DataRank · unranked

114 citations

Ciaran M. Lee, Uma Lakshmanan, Suzette Shipp, Luise Froessl, Federica Barzaghi +16 more

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of Experimental Medicine(2020)10.1084/jem.20191804

N/A

0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 more

Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab

New England Journal of Medicine(2020)10.1056/nejmoa2000024

N/A

0DataRank · unranked

75 citations

Timothy J. Thauland, Alden Huang, Chantana Bun, Sean Fitzwater, Paul Krogstad +6 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Progressive B Cell Loss in Revertant X-SCID

Journal of Clinical Immunology(2020)10.1007/s10875-020-00825-3

N/A

0DataRank · unranked

6 citations

Hye Sun Kuehn, Timothy J. Thauland, Christine Lee, Suk See De Ravin, Harry L. Malech +7 more

Recurrent respiratory viral diseases and chronic sequelae due to dominant negative IFIH1

medRxiv(2020)10.1101/2020.07.01.20105379

N/A

0DataRank · unranked

0 citations

Timothy J. Thauland, Rebecca Signer, Stanley F. Nelson, Undiagnosed Diseases Network, Hane Lee +2 more

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Brain(2021)10.1093/brain/awab313

N/A

0DataRank · unranked

53 citations

Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney +40 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

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