Email

pehlivan@bcm.edu

Positions

Assistant Professor

Pediatrics
Neurology
Baylor College of Medicine
Houston, TX, US

Education

MD from University of Istanbul, Istanbul School of Medicine

07/2004 - Istanbul, Turkey

MD

Residency at University of Istanbul, Istanbul School of Medicine

12/2008 - Istanbul, Turkey

Postdoctoral Fellowship at Baylor College of Medicine

06/2013 - Houston, Texas, United States

Postdoctoral fellow

Internship at Baylor College of Medicine

06/2014 - Houston, Texas, United States

Pediatrics

Clinical Fellowship at Baylor College of Medicine

Houston, Texas, United States

Honors & Awards

Outstanding Junior Member Award

Child Neurology Society (10/2015)

Richard Koenigsberger Award

Child Neurology Society (10/2017)

Best Oral Presentation Award

Turkish Society of Medical Genetics (12/2010)

Professional Interests

• Neurogenetics

Selected Publications

• Yamamoto S, Jaiswal M, Charng WL, ... Pehlivan D, .... Lupski JR, Wangler MF, Bellen HJ. " A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases " Cell. 2014 Sep ; 159 : 200-214.
  Pubmed PMID: 25259927.
• Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, .... Pehlivan D, .... Katsanis N, Omran H.. " ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry " Am J Hum Genet.. 2013 Aug ; 93 (2) : 357-467.
  Pubmed PMID: 23849778.
• Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. " Curcumin facilitates a transitory cellular stress response in Trembler-J mice " Hum Mol Genet.. 2013 Dec ; 22 (23) : 4698-4705.
  Pubmed PMID: 23847051.
• Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. " Replicative mechanisms for CNV formation are error prone " Nat Genet.. 2013 Nov ; 45 (11) : 1319-1326.
  Pubmed PMID: 24056715.
• Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D .... " Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome " Am J Med Genet A.. 2014 Sep ; 164 (9) : 2328-2334.
  Pubmed PMID: 25045128.
• Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. " Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome " J Clin Endocrinol Metab. 2015 Jan ; 100 (1)
  Pubmed PMID: 25322266.
• Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics, Gibbs RA, Lupski JR.. " Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia " Eur J Hum Genet.. 2014 Sep ; 22 (9) : 1145-1148.
  Pubmed PMID: 24424126.
• Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome " ;
• Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation " ;
• Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. " NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation " Genet Med.. 2012 Mar ; 14 (3) : 313-322.
  Pubmed PMID: 22241092.
• Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. " Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly " JAMA Neurol.. 2013 Dec ; 70 (12) : 1491-1498.
  Pubmed PMID: 24126608.
• Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy " ;
• Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H.... " Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations " Am J Hum Genet.. 2014 Jun ; 94 (6) : 915-923.
  Pubmed PMID: 24906020.
• Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin " ;
• Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. " Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome " Nat Genet.. 2011 Oct ; 43 (11) : 1074-1081.
  Pubmed PMID: 21964572.
• Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM.... " Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function " Cell. 2014 Apr ; 157 (3) : 636-650.
  Pubmed PMID: 24766809.
• The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy " ;
• Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism " ;
• Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, .... Gibbs RA, Lupski J. " Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes " J Clin Invest.. 2015 Feb ; 125 (2) : 636-651.
  Pubmed PMID: 25574841.
• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease " ;
• Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR.. " Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D " Genet Med.. 2014 May ; 16 (5) : 386-394.
  Pubmed PMID: 24136616.
• Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis " ;
• Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI " ;
• Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy " ;
• Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome " ;
• Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. " A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype " ;
  Pubmed PMID: 22883432.
• Pehlivan D, Cefle K, Raams A, Ozturk S, Baykal C, Kleijer WJ, Palanduz S, Jaspers NG. " A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship. " ;
  Pubmed PMID: 23039039.
• McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, ....Green ED, Antonellis A.. " Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. " ;
• Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J.. " Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. " ;
  Pubmed PMID: 20727427.
• Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR.. " Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. " ;
  Pubmed PMID: 21623770.
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. " ;
  Pubmed PMID: 21068128.
• Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N.. " Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome " ;
  Pubmed PMID: 24746959.
• Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide " ;
  Pubmed PMID: 32376988.
• Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome " ;
  Pubmed PMID: 32450157.
• Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. " ;
  Pubmed PMID: 32286009.
• Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. " ;
  Pubmed PMID: 31794024.
• Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. " ;
  Pubmed PMID: 31668703.
• Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. " ;
  Pubmed PMID: 31630790.
• Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. " ;
  Pubmed PMID: 31448840.
• Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. " ;
  Pubmed PMID: 31402629.
• The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. " ;
  Pubmed PMID: 31230720.
• Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. " ;
  Pubmed PMID: 30401460.
• Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. " ;
  Pubmed PMID: 30158690.
• Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. " ;
  Pubmed PMID: 31042289.
• Insights into genetics, human biology and disease gleaned from family based genomic studies. " ;
  Pubmed PMID: 30655598.
• Phenotypic expansion illuminates multilocus pathogenic variation. " ;
  Pubmed PMID: 29790871.
• Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. " ;
  Pubmed PMID: 30349862.
• REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. " ;
  Pubmed PMID: 28686854.
• TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. " ;
  Pubmed PMID: 30636772.

Show 45 more publications

Memberships

Child Neurology Society

American Academy of Neurology

American Society of Human Genetics

Turkish Society of Medical Genetics

(12/2008)

Turkish Medical Association

(07/2004)