G. Clark

发表

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

P. Stankiewicz, E. Roeder, Ankita Patel, 2009, Journal of Medical Genetics.

Predominant Localization of the LIS Family of Gene Products to Cajal‐Retzius Cells and Ventricular Neuroepithelium in the Developing Human Cortex

M. Mizuguchi, B. Antalffy, G. Clark, 1997, Journal of neuropathology and experimental neurology.

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.

D. Lardizabal, E. Wyllie, N. P. Poolos, 2002, Neurology.

Epstein-Barr Virus in Gastric Carcinomas from Singapore

K. Min, S. T. Dunn, G. Clark, 1996 .

Neurologic Complications Associated With Influenza A in Children During the 2003–2004 Influenza Season in Houston, Texas

T. Uyeki, S. Maricich, G. Demmler, 2004, Pediatrics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Angioplasty for Acute Stroke With Pediatric Moyamoya Syndrome

M. Mawad, G. Clark, John Volpi, 2010, Journal of child neurology.

Postweaning multisystemic wasting syndrome: Epidemiology and clinical presentation

J. Ellis, G. Clark, J. Harding, 1998 .

Previously uncharacterized roles of platelet-activating factor acetylhydrolase 1b complex in mouse spermatogenesis

G. Eichele, Wei Yan, M. Matzuk, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

L. Shaffer, E. Zackai, S. Christian, 2008, American journal of medical genetics. Part A.

Infant Botulism With Asymmetric Cranial Nerve Palsies.

A. Lyons-Warren, G. Clark, S. Risen, 2019, Pediatric neurology.

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes

Anup D. Patel, Laurie E. Seltzer, J. Szaflarski, 2018, Epilepsy & Behavior.

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

P. Stankiewicz, J. Belmont, F. Scaglia, 2011, American journal of medical genetics. Part A.

Platelet-Activating Factor Acetylhydrolase and Brain Development.

G. Clark, 2015, The Enzymes.

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

R. Wanders, R. Wanders, V. Sutton, 2003, Journal of Inherited Metabolic Disease.

Neurocutaneous Melanocytosis and Leptomeningeal Melanoma.

G. Clark, R. Venkatramani, K. Heym, 2019, Journal of pediatric hematology/oncology.

A Urea Cycle Defect Presenting as Acute Cerebellar Ataxia in a 3-Year-Old Girl

G. Clark, S. K. Shapira, C. Keller, 1998, Journal of child neurology.

GENETICS OF HUMAN BRAIN MALFORMATIONS

G. Clark, 2005 .

The classification of cortical dysplasias through molecular genetics

Gary D. Clark, G. Clark, 2004, Brain and Development.

Brain development and the genetics of brain development.

G. Clark, 2002, Neurologic clinics.

Cerebral gyral dysplasias: molecular genetics and cell biology

G. Clark, G D Clark, Gary D. Clark, 2001, Current opinion in neurology.

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

G. Eichele, W. Dobyns, G. Clark, 2000, Mechanisms of Development.

Cortin disaster: Lissencephaly genes spell double trouble for the developing brain

J. Noebels, G. Clark, 1999, Annals of neurology.

Evaluation of Safety in Exceeding Maximum Adult Doses of Commonly Used Second-Generation Antiepileptic Drugs in Pediatric Patients.

G. Clark, S. DiCarlo, Sunita N. Misra, 2017, The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Emily G. Kelley, Sharyn A. Lincoln, Ellen F. Macnamara, 2020, Molecular genetics & genomic medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

J. Rosenfeld, K. Gripp, W. Bi, 2022, American journal of medical genetics. Part A.

Munchausen's syndrome by proxy (child abuse) presenting as apparent autoerythrocyte sensitization syndrome: an unusual presentation of Polle syndrome.

G. Clark, W. Bithoney, J. Key, 1984, Pediatrics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

J. Rosenfeld, P. Stankiewicz, A. Beaudet, 2016, Genetics in Medicine.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bilateral In Utero Cerebellar Infarction

J. Hunter, Safdar Ansari, M. Ramocki, 2011, Journal of child neurology.

Case report of prenatal bilateral cerebellar infarction: implications for social-behavioral functioning

D. Schwartz, A. Carson, Sara E. Whiting, 2019, The Clinical neuropsychologist.

Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

David R. Murdock, S. Cheung, R. Gibbs, 2011, American journal of medical genetics. Part A.

Neuroimaging aspects of Aicardi syndrome

R. Lewis, V. Sutton, I. B. Van den Veyver, 2008, American journal of medical genetics. Part A.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis.

Isabella Herman, D. Pehlivan, G. Clark, 2021, Pediatric neurology.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

The Cerebral Palsies: Causes, Consequences and Management

G. Miller, G. Clark, 1998 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Novel Treatments and Clinical Research in Child Neurology.

G. Clark, T. Lotze, 2021, Neurologic clinics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke.

A. Jimenez-Gomez, G. Clark, A. Balasa, 2018, Pediatric neurology.

Neurology in a Pandemic.

G. Clark, T. Lotze, 2021, Neurologic clinics.

Platelet-Activating Factor Acetylhydrolase and Brain Development.

G. Clark, 2015, The Enzymes.

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

P. Stankiewicz, J. Belmont, F. Scaglia, 2011, American journal of medical genetics. Part A.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes

Anup D. Patel, Laurie E. Seltzer, J. Szaflarski, 2018, Epilepsy & Behavior.