Wai-Man Chan

J. Demer, E. Engle, C. Andrews, 2008, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

S. Ellard, D. Hunter, E. Engle, 2007, BMC Genetics.

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).

E. Engle, D. Chung, E. Traboulsi, 2003, American journal of ophthalmology.

Expanding the phenotypic spectrum of ECEL1‐related congenital contracture syndromes

E. Engle, C. Andrews, Wai-Man Chan, 2014, Clinical genetics.

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

D. MacArthur, D. Hunter, A. O’Donnell-Luria, 2021, European Journal of Human Genetics.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

P. Mullaney, J. Demer, D. Mackey, 2004, Investigative ophthalmology & visual science.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Janice S. Lee, M. Leppert, F. Collins, 2017, Nature Communications.

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Silvio Alessandro Di Gioia, B. Tüysüz, C. Robson, 2018, American journal of human genetics.

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

E. Engle, E. Traboulsi, C. Andrews, 2005, Journal of Medical Genetics.

Biallelic mutations in human DCC cause developmental split-brain syndrome

E. Lein, P. Grant, A. Barkovich, 2017, Nature Genetics.

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

C. Walsh, E. Lein, P. Grant, 2017, Nature Genetics.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

F. Garaci, D. Hunter, S. Stasheff, 2016, American journal of medical genetics. Part A.

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

E. Jabs, D. Hunter, C. Schubert, 2012, American journal of human genetics.

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region

E. Engle, M. Uchino, E. Uyama, 2003, Neuromuscular Disorders.

HOXA1 mutations are not a common cause of Möbius syndrome.

E. Engle, C. Andrews, Wai-Man Chan, 2010, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Stephen C. J. Parker, James T. Elder, L. Vissers, 2023, Nature Genetics.

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

C. Pato, M. Pato, J. Knowles, 2020, Investigative ophthalmology & visual science.

Identification of KIF 21 A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 ( CFEOM 3 )

P. Mullaney, J. Demer, D. Mackey, 2004 .

Mutant &agr;2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

E. Engle, Wai-Man Chan, Nicole M. Gilette, 2017, The Journal of clinical investigation.

Expansion of the CHN1 strabismus phenotype.

D. Hunter, J. Demer, E. Engle, 2011, Investigative ophthalmology & visual science.

Two novel CHN1 mutations in 2 families with Duane retraction syndrome.

E. Engle, N. Miyake, C. Andrews, 2011, Archives of ophthalmology.

Expansion of the CHN 1 Strabismus Phenotype

D. Hunter, J. Demer, E. Engle, 2011 .

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Janice S. Lee, F. Collins, E. Jabs, 2021, Human Genetics.

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

Samara L. Reck-Peterson, Bernd Fritzsch, E. Engle, 2014, Neuron.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

D. Hunter, E. Engle, C. Andrews, 2014, Ophthalmology.

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

E. Engle, R. Boustany, Wai-Man Chan, 2020, Ophthalmic genetics.

Altered White Matter Organization in the TUBB3 E410K Syndrome.

Cynthia T. Laurentys, Irene E. Drmic, P. Grant, 2018, Cerebral cortex.

Mutant &agr;2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

E. Engle, Alan P. Tenney, Alicia A. Nugent, 2017, The Journal of clinical investigation.

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1[superscript −/−] Mice

E. Jabs, D. Hunter, C. Schubert, 2012 .

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.

M. Whitman, Wai-Man Chan, Mª Ángeles Martínez Sánchez, 2024, JAMA ophthalmology.