Gerard T. Berry

Biochemistry, Genetics and Molecular BiologyMedicine

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

1in 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 1 indexed paper 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 →

Papers

Driven by 53 papers. Top paper: “Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency”.

Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency

New England Journal of Medicine(1988)10.1056/nejm198810133191507

N/A

6.7DataRank · unranked

67 citations

Donna M. Sosnoski, Gerard T. Berry, Robert L. Nussbaum, Anne Maddalena

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

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

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

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Genetics in Medicine(2023)10.1016/j.gim.2023.101039

N/A

0.385DataRank · unranked

12 citations

Sven F. Garbade, Florian Gleich, Svenja Scharré, Jürgen G. Okun, Andrea Gropman +54 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

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI Insight(2024)10.1172/jci.insight.174097

N/A

0.345DataRank · unranked

6 citations

Justin R. Sysol, PamelaSara E. Head, Madeline Epping, Oksana Gavrilova, Melissa K. Crocker +22 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 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

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108566

N/A

0.208DataRank · unranked

3 citations

Stefan Kölker, Sven F. Garbade, Florian Gleich, Sandesh C. Sreenath Nagamani, Andrea Gropman +27 more

Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100742

N/A

0DataRank · unranked

2 citations

Joel B. Krier, Sai Merugumala, Gerard T. Berry, Alexander Lin, Andrew B. Stergachis

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

European Journal of Human Genetics(2022)10.1038/s41431-022-01137-3

N/A

0DataRank · unranked

18 citations

Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao +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 multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12556

N/A

0DataRank · unranked

11 citations

Karolina M. Stępień, Nathan Paull, S. G. Patel, Michael W. W. Adams, Mehmet Cihan Balcı +23 more

The development of end stage renal disease in two patients with PMM2‐CDG

JIMD Reports(2022)10.1002/jmd2.12269

N/A

0DataRank · unranked

5 citations

Leah Hecht, William Brucker, Gerard T. Berry, Nancy Rodig, Henna Tiwary

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

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

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108112

N/A

0DataRank · unranked

6 citations

Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea Gropman, Friederike Epp +31 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

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107682

N/A

0DataRank · unranked

2 citations

Andrew C. Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard T. Berry +2 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

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

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

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

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

N/A

0DataRank · unranked

4 citations

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

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108541

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Uta Lichter‐Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding +8 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

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

The Use of Synaptic Extracellular Myo‐Inositol to Treat Developmental and Epileptic Encephalopathy

Annals of the Child Neurology Society(2025)10.1002/cns3.70029

N/A

0DataRank · unranked

1 citations

Didem Demirbas, Lance H. Rodan, Edward Yang, Sanjay P. Prabhu, Jie Chen +11 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

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

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

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Scientific Reports(2020)10.1038/s41598-020-67496-3

N/A

0DataRank · unranked

19 citations

Sven F. Garbade, Florian Gleich, Andrea Gropman, Pascale de Lonlay, Georg F. Hoffmann +58 more

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12279

N/A

0DataRank · unranked

12 citations

Susan E. Waisbren, Vera Anastasoaie, Gerard T. Berry, Matthew L Brown, Stephanie Petrides +6 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

N/A

0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 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

Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51272

N/A

0DataRank · unranked

17 citations

Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor, Trevor Resnick +7 more

Transient developmental delays in infants with Duarte-2 variant galactosemia

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.07.009

N/A

0DataRank · unranked

13 citations

Catherine Tran, Didem Demirbas, Cynthia S. Gubbels, Margaret Hsiao, Vikram Daesety +2 more

[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

JIMD Reports(2021)10.1002/jmd2.12205

N/A

0DataRank · unranked

2 citations

Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo +2 more