Philip F. Giampietro

Pediatrics | Medical Genetics
1740 W Taylor St
Chicago, IL 60612

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 78 publications

Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.

Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.

Journal: American journal of medical genetics. Part A
Published: May 27, 2026

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education.

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 21, 2026

A phenotypic paradigm for cerebral palsy genetics.

A phenotypic paradigm for cerebral palsy genetics.

Journal: American journal of human genetics
Published: February 17, 2026

A Phenotypic Paradigm for Cerebral Palsy Genetics.

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026

A Phenotypic Paradigm for Cerebral Palsy Genetics.

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors.

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: November 12, 2025

Optical Genome Mapping and Long-Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy.

Optical Genome Mapping and Long-Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy.

Journal: American journal of medical genetics. Part A
Published: November 12, 2025

Factors Associated With Functional Mobility in 256 Children With Arthrogryposis Multiplex Congenita: A Multicentric Cross-Sectional Study.

Factors Associated With Functional Mobility in 256 Children With Arthrogryposis Multiplex Congenita: A Multicentric Cross-Sectional Study.

Journal: Archives of physical medicine and rehabilitation
Published: July 01, 2025

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

Journal: Clinical genetics
Published: May 14, 2025

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.

Journal: American journal of medical genetics. Part A
Published: March 22, 2025

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis.

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis.

Journal: Journal of medical genetics
Published: December 20, 2024

Health-related quality of life in 205 children with arthrogryposis multiplex congenita.

Health-related quality of life in 205 children with arthrogryposis multiplex congenita.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Published: October 04, 2024
Showing 1-12 of 78

Last Updated: 09/26/2026