K. Bilguvar

发表

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

H. Freeze, A. Caglayan, H. Kaymakçalan, 2015, European journal of medical genetics.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Karynne E. Patterson, Debra J. H. Mathews, J. Shendure, 2015, American journal of human genetics.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Yufeng Shen, Alessandro Giardini, Hongyu Zhao, 2017, Nature Genetics.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Michael F. Walker, Stephan J Sanders, K. Roeder, 2012, Nature.

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Genome-wide association study of intracranial aneurysm identifies three new risk loci

Alejandro F. Frangi, Alejandro F Frangi, L. Peltonen, 2010, Nature genetics.

GENETICS OF INTRACRANIAL ANEURYSMS

B. Nahed, K. Bilguvar, M. Gunel, 2007, Neurosurgery.

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Kathryn Roeder, Murim Choi, Eric M. Morrow, 2011, Neuron.

Susceptibility loci for intracranial aneurysm in European and Japanese populations

Murim Choi, Mikael von und zu Fraunberg, Ituro Inoue, 2008, Nature Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Edward R. Smith, Mark W. Youngblood, I. Tikhonova, 2019, Neuron.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Edward R. Smith, S. Mane, R. Bjornson, 2018, Neuron.

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

K. Bilguvar, M. Gunel, M. Tatli, 2007, American journal of medical genetics. Part A.

locomotion in a consanguineous kindred the gene responsible for cerebellar hypoplasia and quadrupedal Homozygosity mapping and targeted genomic sequencing reveal Material Supplemental

E. Atalar, H. Boyaci, K. Doerschner, 2011 .

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

H. Kaymakçalan, Shrikant Mane, R. Lifton, 2022, Molecular genetics & genomic medicine.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

R. Lifton, K. Bilguvar, A. Paller, 2014, The Journal of investigative dermatology.

Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31

B. Nahed, Michele H Johnson, R. Lifton, 2006, Stroke.

Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11 q 24-25 and 14 q 23-31

B. Nahed, Michele H Johnson, R. Lifton, 2006 .

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

S. Mane, K. Bilguvar, Sabrina C Burn, 2015, Tremor and other hyperkinetic movements.

Biallelic BICD2 Variant is a Novel Candidate for Cohen-Like Syndrome

A. Caglayan, C. Yalçınkaya, K. Bilguvar, 2022, Journal of Human Genetics.

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

Joseph T. Glessner, Stephan J Sanders, J. Glessner, 2012, Biological Psychiatry.

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Edward R. Smith, D. Geschwind, J. Broach, 2020, Nature Medicine.

Mutations in chromatin modifiers and Ephrin signaling components in Vein of Galen malformation

Edward R. Smith, Mark W. Youngblood, Weilai, 2019 .

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Hongyu Zhao, S. Mane, K. Pelphrey, 2016, eLife.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

A. Schlessinger, A. Caglayan, M. Topcu, 2016, Cell.

Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas.

Mark W. Youngblood, I. Tikhonova, J. Schramm, 2020, Journal of neurosurgery.

Neuroinvasion of SARS-CoV-2 in human and mouse brain

S. Farhadian, T. Horvath, A. Iwasaki, 2021, The Journal of experimental medicine.

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

K. Bilguvar, Sara A. Lewis, M. Kruer, 2021, Neurology: Genetics.

Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms

K. Bilguvar, T. Tihan, O. U. Sezerman, 2020, Biomedicines.

Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism

Rebecca, Michael J. DiCola, Stephan J Sanders, 2011 .

Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota

Jessica E. Rothman, W. Hanage, L. Gardner, 2022, Communications Biology.

Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

C. Ko, D. Nguyen, K. Bilguvar, 2014, Nature Communications.

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing

J. Milunsky, C. Baldwin, R. Lifton, 2019, Clinical genetics.

Associations of Meningioma Molecular Subgroup and Tumor Recurrence.

Mark W. Youngblood, M. Günel, E. Z. Erson-Omay, 2020, Neuro-oncology.

Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3

B. O’Roak, K. Bilguvar, M. Gunel, 2005, Neurosurgery.

Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI)

C. Yalçınkaya, K. Bilguvar, M. Gunel, 2010, Journal of child neurology.

Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy

Daniela C. Zarnescu, J. Gécz, S. Mane, 2020 .

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals

S. Mane, M. State, R. Lifton, 2007, Human mutation.

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

H. Per, M. Canpolat, A. Caglayan, 2015, Neuropediatrics.

Genetic Polymorphism and Intravenous Immunoglobulin Resistance Relationship in Kawasaki Disease

A. Caglayan, K. Bilguvar, M. Gunel, 2021 .

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

S. Mane, J. Lieske, R. Lifton, 2016, Human Genome Variation.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

M. State, B. Tüysüz, C. Yalçınkaya, 2008, Neurogenetics.

Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening

S. Mane, R. Chen, J. Shay, 2015, Nature Genetics.

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

P. Gregersen, J. Casanova, L. Rowen, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Mark S. Anderson, J. Casanova, L. Rowen, 2022, Research square.

Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene

K. Bilguvar, J. Knight, A. Caccone, 2022, Scientific Reports.

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

R. Lifton, K. Bilguvar, G. Goh, 2016, Clinical endocrinology.

Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype

B. Tüysüz, M. Günel, K. Bilguvar, 2013, American journal of medical genetics. Part A.

Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

Shrikant Mane, K. Bilguvar, A. Ercan-Sencicek, 2010, Clinical genetics.

Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury

K. Bilguvar, A. Colak, A. Karaoğlan, 2008, Journal of Clinical Neuroscience.

Lineage abundance estimation for SARS-CoV-2 in wastewater using transcriptome quantification techniques

W. Hanage, Maxim Imakaev, Shrikant Mane, 2022, Genome Biology.

A two-pronged approach for rapid and high-throughput SARS-CoV-2 nucleic acid testing

P. Shen, A. Giraldez, C. Scharfe, 2020, medRxiv.

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

S. Gabriel, N. Šestan, A. Caglayan, 2013, American journal of human genetics.

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability

A. Caglayan, Katsuhito Yasuno, J. Baranoski, 2020, Journal of Human Genetics.

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

J. Casanova, T. Maniatis, R. Silverman, 2022, Science.

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

K. Bilguvar, Sheng-Chih Jin, M. Fahey, 2021, Neurology: Genetics.

Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA

Pardis C Sabeti, Mark Howison, R. Tewhey, 2022, Cell Reports Medicine.

Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA

Pardis C Sabeti, Catherine M. Brown, R. Tewhey, 2021, medRxiv.

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Steven M. Holland, Amelia Licari, Gian Luigi Marseglia, 2020, Science.

COL4A1 mutation in preterm intraventricular hemorrhage.

L. Ment, K. Schneider, R. Lifton, 2009, The Journal of pediatrics.

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence?

B. Tüysüz, M. Günel, K. Bilguvar, 2016, American journal of medical genetics. Part A.

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

S. Chandra, S. Mane, T. Boggon, 2013, Proceedings of the National Academy of Sciences.

A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

S. Mane, M. State, K. Bilguvar, 2009, Journal of Clinical Neuroscience.

AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma

Randall J. Platt, Mark W. Youngblood, Ryan D. Chow, 2017, Nature Neuroscience.

Direct in vivo mapping of functional suppressors in glioblastoma genome

Randall J. Platt, Mark W. Youngblood, Ryan D. Chow, 2017, bioRxiv.

Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma

K. Bilguvar, O. U. Sezerman, M. C. Yakıcıer, 2021, BMC medical genomics.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Jacques Fellay, Agatha Schlüter, Aurora Pujol, 2020, Science.

Neuroinvasion of SARS-CoV-2 in human and mouse brain

S. Farhadian, T. Horvath, A. Iwasaki, 2020, bioRxiv.

Integrated mutational landscape analysis of uterine leiomyosarcomas

Gloria S. Huang, M. Imieliński, L. Alexandrov, 2021, Proceedings of the National Academy of Sciences.

Integrated genomic characterization of IDH1-mutant glioma malignant progression

A. Vortmeyer, J. Schramm, T. Chan, 2015, Nature Genetics.

Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands

Deepak, Stephan J Sanders, W. Chung, 2017 .

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

C. Sander, N. Schultz, A. Vortmeyer, 2015, Neuro-oncology.

Impact of circulating SARS-CoV-2 variants on mRNA vaccine-induced immunity

M. C. Muenker, Jessica E. Rothman, A. Iwasaki, 2021, Nature.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Huseyin Boyaci, Katja Doerschner, Ergin Atalar, 2011, Genome research.

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.

M. Seashore, R. Bronen, M. State, 2007, Journal of neurosurgery.

Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans

K. Alitalo, R. Duman, K. Bilguvar, 2015, Cell reports.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

T. Ozcelik, K. Bilguvar, M. Gunel, 2012, European Journal of Human Genetics.

Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor

S. Mane, R. Lifton, K. Bilguvar, 2018, Genes, chromosomes & cancer.

Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

H. Per, M. Canpolat, S. Kumandas, 2013, Clinical genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Meghan C Towne, Catherine A. Brownstein, Pankaj B. Agrawal, 2016, Cold Spring Harbor molecular case studies.

Longitudinal analysis of treatment-induced genomic alterations in gliomas

Mark W. Youngblood, L. Deangelis, A. Vortmeyer, 2017, Genome Medicine.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

S. Mane, C. Bystroff, R. Lifton, 2021, Frontiers in Cell and Developmental Biology.

Somatic V600E BRAF mutation in linear and sporadic syringocystadenoma papilliferum

K. Bilguvar, J. McNiff, K. Choate, 2015, The Journal of investigative dermatology.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up

B. Tüysüz, M. Günel, K. Bilguvar, 2014, Rheumatology International.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

L-histidine decarboxylase and Tourette's syndrome.

Judy H. Cho, Stephan J Sanders, B. O’Roak, 2010, The New England journal of medicine.

Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

Gloria S. Huang, L. Alexandrov, T. Boggon, 2019, Proceedings of the National Academy of Sciences.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages

Jessica E. Rothman, W. Hanage, L. Gardner, 2021, medRxiv.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

S. Gabriel, A. Caglayan, H. Kaymakçalan, 2016, American journal of human genetics.

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

B. Tüysüz, N. Kocer, C. Yalçınkaya, 2014, American journal of medical genetics. Part A.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

R. Nussbaum, J. Casanova, M. Gut, 2021, Science immunology.

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

K. Bilguvar, Y. Akman, B. Tuysuz, 2022, Journal of medical genetics.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

Murat Gunel, Richard P Lifton, Matthew W State, 2009, American journal of medical genetics. Part A.

Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

Jenny Welander, Gerald Goh, Stefano Caramuta, 2015, Genes, chromosomes & cancer.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Genetics in Medicine.

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin

M. State, C. Yalçınkaya, K. Bilguvar, 2010, American journal of medical genetics. Part A.

The genetic structure of the Turkish population reveals high levels of variation and admixture

J. Casanova, P. Stenson, D. Cooper, 2021, Proceedings of the National Academy of Sciences.

Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas.

K. Bilguvar, O. U. Sezerman, M. C. Yakıcıer, 2020, Journal of neurosurgery.

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury

K. Bilguvar, A. Colak, A. Karaoğlan, 2008, Journal of Clinical Neuroscience.

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.

Katsuhito Yasuno, M. Günel, J. Baranoski, 2014, Journal of hepatology.

ACOX 2 deficiency : a new disorder of bile acid synthesis with transaminase elevation , liver fibrosis , ataxia and cognitive impairment

D. Jain, R. Lifton, M. Günel, 2016 .

Human CRY1 variants associate with attention deficit/hyperactivity disorder.

J. Casanova, I. Kavakli, K. Bilguvar, 2020, The Journal of clinical investigation.

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl

B. Tüysüz, K. Bilguvar, Dilek Uludağ Alkaya, 2021, American journal of medical genetics. Part A.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

M. State, Katsuhito Yasuno, C. Yalçınkaya, 2010, neurogenetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Tanyeri Barak, 2011, American journal of human genetics.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

N. Šestan, A. Caglayan, H. Kaymakçalan, 2014, Pediatric neurology.

Hemorrhagic Brain Disease

K. Bilguvar, M. Gunel, G. Tanriover, 2007 .

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

A. Caglayan, K. Bilguvar, A. Başak, 2018, Neurology: Genetics.

Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome

Mark W. Youngblood, B. Tüysüz, Katsuhito Yasuno, 2018, Molecular genetics & genomic medicine.

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats.

K. Bilguvar, A. Colak, A. Karaoğlan, 2008, Surgical neurology.

Neuroinvasive potential of SARS-CoV-2 revealed in a human brain organoid model

S. Farhadian, T. Horvath, A. Iwasaki, 2020 .

Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified

Tunahan Çakır, A. Caglayan, K. Bilguvar, 2022, The journal of obstetrics and gynaecology research.

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.

M. Günel, K. Bilguvar, T. KiliÇ, 2016, Journal of neurosurgery.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

B. Tüysüz, C. Yalçınkaya, K. Bilguvar, 2022, Turkish archives of pediatrics.

The distinct genetic pattern of ALS in Turkey and novel mutations

Robert H. Brown, J. Landers, M. Günel, 2015, Neurobiology of Aging.

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

A. Louvi, Tanyeri Barak, R. Lifton, 2023, Proceedings of the National Academy of Sciences of the United States of America.

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

A. Caglayan, G. Akgumus, C. Çağlar, 2013, Genetic counseling.

De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

Stephan J Sanders, M. Daly, W. Chung, 2016 .

D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

Preti Jain, S. Ferdinandusse, W. Ji, 2021, American journal of medical genetics. Part A.

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Stephan J Sanders, E. Grigorenko, S. Mane, 2014, European Journal of Human Genetics.

METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability

A. Caglayan, Katsuhito Yasuno, J. Baranoski, 2020, Journal of Human Genetics.

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

Shrikant Mane, R. Lifton, K. Bilguvar, 2023, bioRxiv.

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Murim Choi, John D. Overton, Philip H. Gutin, 2013, Science.

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation

B. Tüysüz, M. Günel, K. Bilguvar, 2015, Pediatric Radiology.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

H. Per, M. Canpolat, S. Kumandas, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

Shrikant Mane, R. Lifton, K. Bilguvar, 2023, bioRxiv.

LRRC23 loss-of-function impairs radial spoke 3 head assembly and causes defective sperm motility underlying male infertility

Shrikant Mane, R. Lifton, K. Bilguvar, 2023 .

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

S. Mane, H. Per, N. Šestan, 2014, Neuron.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Genome-wide association study of intracranial aneurysm identifies three new risk loci

Alejandro F Frangi, L. Peltonen, C. Wijmenga, 2010, Nature Genetics.

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

Stephan J Sanders, J. Glessner, H. Hakonarson, 2012, Biological Psychiatry.

Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury

K. Bilguvar, A. Colak, A. Karaoğlan, 2008, Journal of Clinical Neuroscience.

Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats.

K. Bilguvar, A. Colak, A. Karaoğlan, 2008, Surgical neurology.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Mehmet Bakırcıoğlu, 2011, American journal of human genetics.

Integrated genomic characterization of IDH1-mutant glioma malignant progression

A. Vortmeyer, J. Schramm, A. Louvi, 2015, Nature Genetics.

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles

Hongyu Zhao, S. Mane, K. Pelphrey, 2017, Plastic and Reconstructive Surgery Global Open.

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

Mark W. Youngblood, Tong Ihn Lee, A. Vortmeyer, 2017, Nature Communications.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Marni J. Falk, J. Rosenfeld, S. Wells, 2016, American journal of human genetics.

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

S. Mane, Kaya Bilgüvar, B. Tüysüz, 2015, Journal of Human Genetics.