Himanshu Goel

University of Newcastle Australia

Australia

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Articles (20)

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2025

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2025

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2025

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2023

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2022

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2022

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2022

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2022

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2022

Collaborators (14)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Tracy Briggs

The University of Manchester

UNITED KINGDOM

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Adam P. Vogel

University of Melbourne

AUSTRALIA

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Zornitza Stark

AUSTRALIA

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Victoria Jackson

University of Melbourne

AUSTRALIA

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Peter Krawitz

University of Bonn

GERMANY

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Michael Hildebrand

A/Professor

University of Melbourne

AUSTRALIA

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Frederique Liegeois

University College London

UNITED KINGDOM

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Dierk Niessing

Professor & Head of Institute

Ulm University

GERMANY

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David J. Amor

AUSTRALIA

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Ingrid Scheffer

University of Melbourne

AUSTRALIA

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Longfei Wang

Walter and Eliza Hall Institute of Medical Research

AUSTRALIA

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Cheryl Shoubridge

University of Adelaide

AUSTRALIA

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Beatrice Spedicati

University of Trieste

ITALY

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Himanshu Goel

Research Interests

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Articles (20)

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum

CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion

EED related overgrowth: First report of multiple members in a single family

MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation

MicroRNA and Rare Human Diseases

Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain

Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Collaborators (14)

Meena Balasubramanian

Tracy Briggs

Adam P. Vogel

Zornitza Stark

Victoria Jackson

Peter Krawitz

Michael Hildebrand

Frederique Liegeois

Dierk Niessing

David J. Amor

Ingrid Scheffer

Longfei Wang

Cheryl Shoubridge

Beatrice Spedicati

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