Evidence map›Paper›PMID 39622807›Full record

ArticleNPJ genomic medicine2024

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein, Maya Chopra, Janet Chou, Wendy K Chung, Alissa M D'Gama, Ryan N Doan and 27 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Heterozygous variants in DOCK2 leading to susceptibility to viral illnesses.The Journal of allergy and clinical immunology · 2026
    Article
  8. Article
  9. Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  10. A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.American journal of medical genetics. Part C, Seminars in medical genetics · 2025
    Article
  11. Lethal neonatal acidosis: Multiomic investigation of a novelMolecular genetics and metabolism reports · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors.

Courtney E FrenchChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7620-1544
Nancy C AndrewsDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0243-4462
Alan H BeggsChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Philip M BooneChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Catherine A BrownsteinChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7371-0340
Maya ChopraChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-2574-3375
Janet ChouChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Wendy K ChungChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3438-5685
Alissa M D'GamaChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Ryan N DoanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Darius Ebrahimi-FakhariChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Richard D GoldsteinChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Mira IronsDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Christina JacobsenChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Margaret KennaChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Ted LeeChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Jill A MaddenChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Amar J MajmundarChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Nina MannChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Sarah U MortonDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7816-2646
Annapurna PoduriChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7350-5136
Adrienne G RandolphChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Amy E RobertsChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Stephanie RobertsChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Matthew G SampsonChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Diane D ShaoChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Wanqing ShaoChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Aditi SharmaChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Eliot ShearerChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Akiko ShimamuraChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4683-9958
Scott B SnapperChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0267-4247
Siddharth SrivastavaChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Jay R ThiagarajahChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Mary C WhitmanChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Monica H WojcikChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8162-5031
Shira RockowitzChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1490-592X
Piotr SlizChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-6522-0835

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Systems Biology of Bone Marrow Failure and MDS for Precision MedicineRC2DK122533 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI FIGUEROA, MARIA EUGENIA, FLEMING, MARK D · 2019 to 2023
$6.4M
Severe Chronic Neutropenia International RegistryR24AI162637 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI PETER E NEWBURGER, Akiko Shimamura · 2022 to 2026
$5.8M
Delineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.K08DK125768 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI MAJMUNDAR, AMAR J · 2021 to 2025
$841k
Integration of RNA and Genome Sequences to Identify Genetic Risk in Hypoplastic Left Heart SyndromeK08HL157653 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI Sarah Uhler Morton · 2022 to 2026
$840k
NHLBI NIH HHS K08 HL157653NIAID NIH HHS R24 AI162637NICHD NIH HHS P50 HD105351NIDDK NIH HHS K08 DK125768NIDDK NIH HHS RC2 DK122533
6 · The paper itself

Abstract

Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patients enrolled in specialized rare disease research studies. The data, consented for broad research use, are harmonized and analyzed with CRDC-supported variant interpretation tools. Since its launch, 66 investigators representing 26 divisions and 45 phenotype-based cohorts have joined the CRDC. These studies enrolled 4653 families, with 35% of analyzed cases having a finding either confirmed or under further investigation. This accessible and harmonized genomics platform also supports additional institutional data collections, research and clinical, and now encompasses 13,800+ patients and their families. This has fostered new research projects and collaborations, increased genetic diagnoses and accelerated innovative research via integration of genomics research with clinical care.

Identifiers

PMID39622807
PMCPMC11612168

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.