TOOLS & DOWNLOADS

Useful things to take with you.

Individual PDF guides, fillable family tools, a clinician orientation, a research brief, clear data definitions, and public scientific data support practical work. Use only the tool that fits the question in front of you.

INDIVIDUAL DOWNLOADS

Choose one tool. Download one file. Use it for one clear job.

Choose the guide or worksheet that fits the task. 5 tools can be filled in, saved, and reopened in a compatible PDF reader; every file is also ready to print.

Download only what you need.

Each guide and worksheet is provided as an individual, structured, print-ready PDF. Fillable tools can be saved and resumed in a compatible PDF reader. Completed worksheets may contain private health or school information, so store and share them accordingly.

FEATURED FAMILY TOOLS

Choose the depth that fits today.

Start with the concise profile for a usable handoff. Open the comprehensive questionnaire only when a deeper, save-and-return history would help.

Start a family profile

START SHORT · 8-page Core Family Profile

Families · caregivers · self-advocates · care teams

ASH1L Core Family Profile

Use this when: You need a concise, person-first snapshot for an appointment, school meeting, therapy handoff, or new clinician.

Strengths, communication and priorities
Reliable baseline and safety
Genetic and health essentials
One change-over-time page
A simple sharing plan

8 pages · fillable PDF · about 20–30 minutes

FILLABLE PDFOpen or download the Core Family Profile PDF

Optional deep-dive

BUILD OVER TIME · comprehensive questionnaire

Parents · caregivers · self-advocates

Comprehensive parent & caregiver questionnaire

Use this when: You want to build a detailed family history over time and complete only the optional modules that are relevant.

15 clinical areas
Comprehensive optional modules
Save-and-return fillable fields
Source, timeline and recovery prompts
A practical sharing plan

80 pages · modular fillable PDF · save and return · not intended for one sitting

FILLABLE PDFOpen or download the Comprehensive Parent and Caregiver Questionnaire PDF

PRACTICAL FAMILY TOOLS

Start, prepare, and track one question at a time.

4 concise tools for understanding the diagnosis, keeping the genetic report organized, preparing for care, and documenting a meaningful change.

Start here

Families · clinicians · educators

Family starter guide

Use this when: You are newly diagnosed or need a calm, accurate reset.

What is inside

What the diagnosis means
What it cannot predict
Four useful first steps
How to use community information

4 pages · PDF

PDFOpen or download the Family Starter Guide PDF

Understand the report

Families · genetics teams

Genetic report decoder

Use this when: You are reading or discussing the complete laboratory report.

What is inside

Report fields to preserve
Synthetic annotated example
VUS and inheritance limits
Questions for genetics

6 pages · PDF

PDFOpen or download the Genetic Report Decoder PDF

Prepare for care

Families · care teams

Appointment planner

Use this when: You are preparing for a first, new-specialty, or complex visit.

What is inside

Visit priorities
Baseline and supports
Spacious chronology
Shared next-step plan

6 pages · fillable and print-ready PDF

FILLABLE PDFOpen or download the Appointment Planner PDF

Track a change

Families · clinicians · schools · therapists

Function & state tracker

Use this when: A meaningful change needs one shared, factual record.

What is inside

Baseline-to-recovery sequence
Event detail
Source and certainty
Competing explanations and recovery

6 pages · fillable and print-ready PDF

FILLABLE PDFOpen or download the Function and State Tracker PDF

CLINICIAN · SCHOOL · THERAPY

Bring the same baseline into different settings.

2 focused tools for sharing the same baseline with clinicians, schools, and therapists.

Support participation

Families · schools · therapists

School & therapy profile

Use this when: Support needs or reliable access vary across settings.

What is inside

Stable support profile
Early change signals
Response plan
Reusable observation log

6 pages · fillable and print-ready PDF

FILLABLE PDFOpen or download the School and Therapy Profile PDF

Clinical orientation

Clinicians

Clinician quick reference

Use this when: A clinician needs the ASH1L essentials before an encounter.

What is inside

Gene–disease relationship
Human phenotype and limits
First-encounter priorities
Change review and core references

6 pages · PDF

PDFOpen or download the Clinician Quick Reference PDF

RESEARCH COLLABORATION

Prepare for a focused research conversation.

A concise research brief covering 11 questions, who or what to compare, what findings would support each idea, participant safeguards, and how to measure change over time.

Research collaboration

Investigators · clinicians · data collaborators

Research collaboration brief

Use this when: You are scoping a study, feasibility question, or partnership.

What is inside

5-stage evidence path
6-timepoint experimental design
11 testable research questions
Study safeguards and collaboration requirements

11 pages · PDF

PDFOpen or download the Research Collaboration Brief PDF

RESEARCH DATA

Download the public research data.

50 publications · CSV and JSON

Evidence Library data

All 50 publications, each paired with its main research question, why it matters here, what it supports, what it cannot establish, DOI or PubMed identifiers when available, and primary links.

CSVDownload Evidence Library CSV JSONDownload Evidence Library JSON

51 expression values · 13 experimental models · sources included

Tissue Biology data

The 51 HPA/GTEx consensus nTPM values shown on the Tissue Biology page, with citations and access dates, plus summaries of 6 cell contexts, 13 experimental models, and 6 state-related findings in the complete JSON file.

CSVDownload Tissue expression CSV JSONDownload complete Tissue data JSON

10 study sources · 55 results with explicit denominators · missing information kept separate

Cross-study human phenotype matrix

10 human study sources and 55 feature results with positive n, assessed N, missing N, recruitment method, the exact location in the paper or supplement, participant overlap, and documented disagreements between sources. Information available for the 63 connected people remains a separate comparison table.

CSVDownload human phenotype matrix CSV JSONDownload human phenotype matrix JSON CSVDownload clinical-area information CSV JSONDownload clinical-area information JSON

Aggregate cohort counts · separately governed external-source variants

Scientific data workbook & external variant sourcebook

The main workbook brings together evidence, tissue, phenotype, and aggregate information across 15 clinical areas; it contains no person-level connected-group variant roster. The separate 234-entry sourcebook contains external literature and database entries only—it is not the 63-person connected cohort and does not identify cohort membership.

XLSXDownload aggregate scientific workbook XLSXDownload external variant sourcebook

15 clinical areas · CSV and JSON

Guide to the 15 clinical areas

The names and order of the 15 clinical areas, the questions each covers, links to the relevant site sections, and an explanation of how missing information is treated.

CSVDownload clinical-area guide CSV JSONDownload clinical-area guide JSON

28 terms used across the public data files

Data definitions

28 plain-language definitions for fields used in the public clinical-area and human-phenotype files, including study groups, denominators, source disagreements, and missing information.

CSVDownload data definitions CSV JSONDownload data definitions JSON

28 separately defined counts

How each count is defined

Definitions for 28 molecular, source, clinical, age, longitudinal, publication, and Atlas counts, including who is counted, who is not, and what each number can support.

CSVDownload count definitions CSV JSONDownload count definitions JSON

INDEPENDENT OPTIONS

Family connection and research participation.

Care4ASH1L offers family-led advocacy; Simons Searchlight offers a research-participation pathway.

RESEARCH PARTICIPATION

Simons Searchlight

ASH1L is included in Simons Searchlight, an international research program for rare neurodevelopmental conditions. Participation can include genetic-report review, medical and developmental history, repeat surveys over time, and optional research activities under the program’s own consent.

Review the ASH1L program page ↗Review eligibility and registration ↗

Simons Searchlight is a consented research program. Review its current eligibility and consent information before enrolling.

INDEPENDENT FAMILY ADVOCACY

Care4ASH1L

Care4ASH1L is an independent Canadian registered charity founded by ASH1L families. It describes its work as connecting families, raising awareness and funds, and supporting research intended to improve understanding of ASH1L-related disorders.

Visit Care4ASH1L ↗Read about the organization ↗

Joining Care4ASH1L’s contact list is different from enrolling in a research study.

LOOKING FOR PAPERS?

The Evidence Library is organized by evidence type.

Browse the Evidence Library