Precilla D’Souza

Also affiliated with Baylor College of Medicine, National Human Genome Research Institute, Office of the Director, Université Bourgogne Franche-Comté, National Institutes of Health Clinical Center, National Institute of Mental Health

MedicineBiochemistry, 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 40 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

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

GM1 gangliosidosis type II: Results of a 10-year prospective study

Genetics in Medicine(2024)10.1016/j.gim.2024.101144

N/A

0.557DataRank · unranked

19 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman +24 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

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

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Scientific Reports(2022)10.1038/s41598-022-12789-y

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0DataRank · unranked

23 citations

Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza +5 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

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

Journal of Clinical Investigation(2023)10.1172/jci173510

N/A

0DataRank · unranked

135 citations

Manuela Corti, Kirsten E. Coleman, Megan B. Wichman, Julie Berthy, Precilla D’Souza +10 more

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

EBioMedicine(2023)10.1016/j.ebiom.2023.104627

N/A

0DataRank · unranked

21 citations

Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena‐Raluca Nicoli, Precilla D’Souza +12 more

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31823

N/A

0DataRank · unranked

25 citations

Priyam Jani, Wadih M. Zein, Precilla D’Souza, Lynne A. Wolfe, Jennifer Chisholm +6 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

Posterior superior temporal cortex connectivity is related to social communication in toddlers

Infant Behavior and Development(2023)10.1016/j.infbeh.2023.101831

N/A

0DataRank · unranked

6 citations

Yaqiong Xiao, Hua Xie, Stacy S. Manwaring, Cristan Farmer, Lauren Thompson +4 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 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

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544

N/A

0DataRank · unranked

15 citations

Ellen F. Macnamara, Precilla D’Souza, John Yang, Gilbert Vézina, Undiagnosed Diseases Network +5 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

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

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03083-3

N/A

0DataRank · unranked

5 citations

Francine Molay, Sarah Hargadon, Cláudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu +10 more

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

Frontiers in Neuroimaging(2024)10.3389/fnimg.2024.1410848

N/A

0DataRank · unranked

6 citations

Josephine Kolstad, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +10 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

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv(2024)10.1101/2024.01.04.24300778

N/A

0DataRank · unranked

5 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman +23 more

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease

medRxiv(2024)10.1101/2024.08.25.24312255

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, William A. Gahl +4 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

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109025

N/A

0DataRank · unranked

7 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

Brain Communications(2025)10.1093/braincomms/fcaf198

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, Muhammad Yousef +5 more

Brain Morphometry of Toddlers With Language Delay: An Exploratory Study

Infant and Child Development(2025)10.1002/icd.2558

N/A

0DataRank · unranked

3 citations

Elizabeth G. Smith, Elizabeth Redcay, Heather C. Hazlett, Lauren Thompson, Stacy S. Manwaring +3 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 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

Brain Age Prediction in Type II GM1 Gangliosidosis

medRxiv(2025)10.1101/2025.04.23.25326206

N/A

0DataRank · unranked

2 citations

Selby I. Chipman, Precilla D’Souza, Jean M. Johnston, Muhammad Yousef, William A. Gahl +3 more

Regulation of human development by ubiquitin chain editing of chromatin remodelers

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.01.23.917450

N/A

0DataRank · unranked

3 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +24 more

Corrigendum to “Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients” [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109109

N/A

0DataRank · unranked

0 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Science Advances(2021)10.1126/sciadv.abe2116

N/A

0DataRank · unranked

50 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +28 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