B. Barry

S. Gabriel, C. Walsh, J. Ellison, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

SLC25A22 is a novel gene for migrating partial seizures in infancy

I. Scheffer, C. Walsh, A. Barkovich, 2013, Annals of neurology.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Maria K. Lehtinen, C. Walsh, R. Beroukhim, 2012, Neuron.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

C. Walsh, R. Folkerth, A. Barkovich, 2010, Nature Genetics.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

I. Scheffer, C. Walsh, Bai-Lin Wu, 2012, Epilepsia.

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

C. Walsh, J. Golden, H. Samuels, 2012, Cell.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Athar N. Malik, C. Walsh, L. Zon, 2012, Nature Genetics.

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

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

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

FLNA genomic rearrangements cause periventricular nodular heterotopia

T. Yu, C. V. van Karnebeek, R. Guerrini, 2012, Neurology.

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.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Arthur S. Lee, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

Disorders of Microtubule Function in Neurons: Imaging Correlates

C. Walsh, A. Barkovich, M. Sahin, 2016, American Journal of Neuroradiology.

I. Thiffault, F. Santos-Simarro, E. Engle, 2019, Clinical genetics.

Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

C. Walsh, W. Dobyns, Karen R Schmidt, 2008, Human mutation.

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

C. Walsh, G. Shaw, A. Barkovich, 2010, American journal of medical genetics. Part A.

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

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

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

D. Hunter, E. Engle, G. Heidary, 2019, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

G‐protein coupled receptor 56 promotes myoblast fusion through serum response factor‐ and nuclear factor of activated T‐cell‐mediated signalling but is not essential for muscle development in vivo

A. Rozkalne, E. Gussoni, A. Kopin, 2013, The FEBS journal.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

C. Walsh, G. Gascon, F. Alkuraya, 2011, American journal of human genetics.

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

A. Barkovich, J. Stoler, G. Mochida, 2016, American journal of medical genetics. Part A.

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.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

I. Gottlob, E. Engle, R. Dineen, 2019, British Journal of Ophthalmology.

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

B. Al-Diri, I. Gottlob, E. Engle, 2021, International journal of molecular sciences.

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

C. Walsh, A. Barkovich, A. Poduri, 2013, American Journal of Neuroradiology.

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.

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

C. Walsh, A. Barkovich, M. Topcu, 2010, Nature Genetics.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

C. Walsh, A. Barkovich, D. Riva, 2010, Brain and Development.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

TUBB3 and KIF21A in neurodevelopment and disease

E. Engle, B. Barry, Dharmendra Puri, 2023, Frontiers in neuroscience.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

G. Gascon, F. Alkuraya, R. Hill, 2011, American journal of human genetics.

E. Gussoni, A. Kopin, M. Lawlor, 2013, The FEBS journal.

There Are Three Distinct Forms of Bombesin IDENTIFICATION OF [Leu 13 ]BOMBESIN, [Phe 13 ]BOMBESIN, AND [Ser 3 ,Arg 10 ,Phe 13 ]BOMBESIN IN THE FROG BOMBINA ORIENTALIS *

B. Gibson, A. Falick, E. Spindel, 1996 .

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.