Associate Professor, Medicine, U of WA Sch of Med
Medical Genetics
Dr. Fuki M. Hisama, MD
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Doctor Fuki M. Hisama, MD works in the field of Medical Genetics. She attended University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10 in research and 19 in primary care medicine She over the years received 1 awards: "Regional Top Doctor". Fuki Hisama is also published. She has 52 publications published. The lastest publication: "Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.' She accepts Medicare payments and is listed with Medicare.gov.
Publications
- Improving performance of multigene panels for genomic analysis of Cancer predisposition.
- POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
- Clinical utility gene card for: Werner Syndrome.
- Comparative effectiveness of next generation genomic sequencing for Disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyp...
- An Encouraging Progress Report on the Treatment of Progeria and its Implications for Atherogenesis.
- Copy number variation plays an important role in clinical Epilepsy.
- Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
- Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Researc...
- Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes.
- Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum Disorders.
- Return of incidental findings in genomic medicine: measuring what patients value-development of an instrument to measure preferences for information from next-generati...
- Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.
- Return of incidental findings in genomic medicine: measuring what patients value.
- Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.
- Coronary artery Disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
- Congenital Intraabdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4.
- Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher Disease.
- Synergistic interaction of the OCA2 and OCA3 genes in a family.
- Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
- Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
- Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
- WRN's tenth anniversary.
- FXTAS, SCA10, and SCA17 in American patients with movement Disorders.
- Progressive external ophthalmoplegia: a new family with tremor and Peripheral neuropathy.
- Rapid array-based genomic characterization of a subtle structural Abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).
- Familial periodic paralysis and Charcot-Marie-Tooth Disease in a 7-generation family.
- Novel LGI1 mutation in a family with autosomal dominant partial Epilepsy with auditory features.
- No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios.
- Clinical genetic testing for patients with autism spectrum Disorders.
- LGI1-associated Epilepsy through altered ADAM23-dependent neuronal morphology.
- Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth.
- Newly characterised 5'' and 3'' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
- Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental Disorders.
- WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Positional cloning of the Werner's syndrome gene.
- A case of inherited erythromelalgia.
- An expression map from human chromosome 14q24.3.
- GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated Visual field defects.
- Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth Disease involving the central nervous system.
- Human GABA(B) receptor 1 gene: eight novel sequence variants.
- 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.
- WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts.
- Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.
- Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region.
- A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21.
- Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion.
- Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
- Myhre syndrome with Ataxia and cerebellar atrophy.
Schools
U Of Chgo Div Of Bio Sci Pritzker Sch Of Med
Northwestern Meml Hospital
Yale New Haven Hospital
Yale School Med
Conditions Treated
- Alzheimer's Disease
- Ataxia
- Brain and Nervous System Cancer (incl. Gliomas, Astrocytoma, Schwannoma, Medulloblastoma, Chordoma)
- Convulsions
- View All
Doctors Specialties
- Clinical Genetics
- Neurology
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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Yale-New Haven Hospital -
McGaw Medical Center of Northwestern University -
University of Chicago Pritzker School of Medicine
Hospital
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Seattle Children's Hospital -
University of Washington Medical Center
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1780666420 |
| Last Name Of The Provider | HISAMA |
| First Name Of The Provider | FUKI |
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