Publications by authors named "Hande Kaymakçalan"

16Publications

1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

Authors:
Hande Kaymakçalan Peining Li

Indian J Pediatr 2019 11 4;86(11):1068. Epub 2019 Jul 4.

Department of Clinical Genetics, Yale University, New Haven, CT, USA.

View Article and Find Full Text PDF
November 2019

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

Authors:
Ashleigh E Schaffer Martin W Breuss Ahmet Okay Caglayan Nouriya Al-Sanaa Hind Y Al-Abdulwahed Hande Kaymakçalan Cahide Yılmaz Maha S Zaki Rasim O Rosti Brett Copeland Seung Tae Baek Damir Musaev Eric C Scott Tawfeg Ben-Omran Ariana Kariminejad Hulya Kayserili Faezeh Mojahedi Majdi Kara Na Cai Jennifer L Silhavy Seham Elsharif Elif Fenercioglu Bruce A Barshop Bulent Kara Rengang Wang Valentina Stanley Kiely N James Rahul Nachnani Aneesha Kalur Hisham Megahed Faruk Incecik Sumita Danda Yasemin Alanay Eissa Faqeih Gia Melikishvili Lobna Mansour Ian Miller Biayna Sukhudyan Jamel Chelly William B Dobyns Kaya Bilguvar Rami Abou Jamra Murat Gunel Joseph G Gleeson

Nat Genet 2018 08 16;50(8):1093-1101. Epub 2018 Jul 16.

Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.

View Article and Find Full Text PDF
August 2018

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Authors:
Hande Kaymakcalan Yanki Yarman Nukte Goc Fatih Toy Cihan Meral A Gulhan Ercan-Sencicek Murat Gunel

Am J Med Genet A 2018 02 11;176(2):421-425. Epub 2017 Dec 11.

Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

View Article and Find Full Text PDF
February 2018

gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Authors:
Ahmet Okay Çağlayan Rabia Gonul Sezer Hande Kaymakçalan Ege Ulgen Taner Yavuz Jacob F Baranoski Abdulkadir Bozaykut Akdes Serin Harmanci Yalim Yalcin Mark W Youngblood Katsuhito Yasuno Kaya Bilgüvar Murat Gunel

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.

View Article and Find Full Text PDF
September 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Authors:
Nareh V Marukian Rong-Hua Hu Brittany G Craiglow Leonard M Milstone Jing Zhou Amy Theos Hande Kaymakcalan Deniz A Akkaya Jouni J Uitto Hassan Vahidnezhad Leila Youssefian Susan J Bayliss Amy S Paller Lynn M Boyden Keith A Choate

JAMA Dermatol 2017 06;153(6):537-543

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut10Department of Genetics, Yale University School of Medicine, New Haven, Connecticut11Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.

View Article and Find Full Text PDF
June 2017

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

Authors:
Hongda Li Stephanie L Bielas Maha S Zaki Samira Ismail Dorit Farfara Kyongmi Um Rasim O Rosti Eric C Scott Shu Tu Neil C Chi Stacey Gabriel Emine Z Erson-Omay A Gulhan Ercan-Sencicek Katsuhito Yasuno Ahmet Okay Çağlayan Hande Kaymakçalan Barış Ekici Kaya Bilguvar Murat Gunel Joseph G Gleeson

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article and Find Full Text PDF
August 2016

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

Authors:
Ahmet Okay Caglayan Jacob F Baranoski Fesih Aktar Wengi Han Beyhan Tuysuz Aslan Guzel Bulent Guclu Hande Kaymakcalan Berrin Aktekin Gozde Tugce Akgumus Phillip B Murray Emine Z Erson-Omay Caner Caglar Mehmet Bakircioglu Yildirim Bayezit Sakalar Ebru Guzel Nihat Demir Oguz Tuncer Senem Senturk Baris Ekici Frank J Minja Nenad Šestan Katsuhito Yasuno Kaya Bilguvar Huseyin Caksen Murat Gunel

Pediatr Neurol 2014 Dec 4;51(6):806-813.e8. Epub 2014 Sep 4.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut; Department of Neurobiology, Yale School of Medicine, New Haven, Connecticut; Department of Genetics, Yale School of Medicine, New Haven, Connecticut.

View Article and Find Full Text PDF
December 2014

Changes in peanut allergy prevalence in different ethnic groups in 2 time periods.

Authors:
Adam T Fox Hande Kaymakcalan Michael Perkin George du Toit Gideon Lack

J Allergy Clin Immunol 2015 Feb 29;135(2):580-2. Epub 2014 Oct 29.

King's College London, MRC & Asthma UK Centre in Allergic Mechanisms of Asthma, Division of Asthma, Allergy and Lung Biology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

View Article and Find Full Text PDF
February 2015

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

Authors:
Ahmet Okay Caglayan Sinan Comu Jacob F Baranoski Yesim Parman Hande Kaymakçalan Gozde Tugce Akgumus Caner Caglar Duygu Dolen Emine Zeynep Erson-Omay Akdes Serin Harmanci Ketu Mishra-Gorur Hudson H Freeze Katsuhito Yasuno Kaya Bilguvar Murat Gunel

Eur J Med Genet 2015 Jan 9;58(1):39-43. Epub 2014 Sep 9.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address:

View Article and Find Full Text PDF
January 2015

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

Authors:
Farid Radmanesh Ahmet Okay Caglayan Jennifer L Silhavy Cahide Yilmaz Vincent Cantagrel Tarek Omar Başak Rosti Hande Kaymakcalan Stacey Gabriel Mingfeng Li Nenad Sestan Kaya Bilguvar William B Dobyns Maha S Zaki Murat Gunel Joseph G Gleeson

Am J Hum Genet 2013 Mar;92(3):468-74

Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, CA 92093, USA.

View Article and Find Full Text PDF
March 2013

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Authors:
Victoria E Clark E Zeynep Erson-Omay Akdes Serin Jun Yin Justin Cotney Koray Ozduman Timuçin Avşar Jie Li Phillip B Murray Octavian Henegariu Saliha Yilmaz Jennifer Moliterno Günel Geneive Carrión-Grant Baran Yilmaz Conor Grady Bahattin Tanrikulu Mehmet Bakircioğlu Hande Kaymakçalan Ahmet Okay Caglayan Leman Sencar Emre Ceyhun A Fatih Atik Yaşar Bayri Hanwen Bai Luis E Kolb Ryan M Hebert S Bulent Omay Ketu Mishra-Gorur Murim Choi John D Overton Eric C Holland Shrikant Mane Matthew W State Kaya Bilgüvar Joachim M Baehring Philip H Gutin Joseph M Piepmeier Alexander Vortmeyer Cameron W Brennan M Necmettin Pamir Türker Kiliç Richard P Lifton James P Noonan Katsuhito Yasuno Murat Günel

Science 2013 Mar 24;339(6123):1077-80. Epub 2013 Jan 24.

Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510, USA.

View Article and Find Full Text PDF
March 2013

Prenatal health, educational attainment, and intergenerational inequality: the Northern Finland Birth Cohort 1966 Study.

Authors:
Juho Härkönen Hande Kaymakçalan Pirjo Mäki Anja Taanila

Demography 2012 May;49(2):525-52

Demography Unit, Department of Sociology, Stockholm University, S-106 91 Stockholm, Sweden.

View Article and Find Full Text PDF
May 2012

Recessive LAMC3 mutations cause malformations of occipital cortical development.

Authors:
Tanyeri Barak Kenneth Y Kwan Angeliki Louvi Veysi Demirbilek Serap Saygı Beyhan Tüysüz Murim Choi Hüseyin Boyacı Katja Doerschner Ying Zhu Hande Kaymakçalan Saliha Yılmaz Mehmet Bakırcıoğlu Ahmet Okay Cağlayan Ali Kemal Oztürk Katsuhito Yasuno William J Brunken Ergin Atalar Cengiz Yalçınkaya Alp Dinçer Richard A Bronen Shrikant Mane Tayfun Ozçelik Richard P Lifton Nenad Sestan Kaya Bilgüvar Murat Günel

Nat Genet 2011 Jun 15;43(6):590-4. Epub 2011 May 15.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA.

View Article and Find Full Text PDF
June 2011

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Authors:
Kaya Bilgüvar Ali Kemal Oztürk Angeliki Louvi Kenneth Y Kwan Murim Choi Burak Tatli Dilek Yalnizoğlu Beyhan Tüysüz Ahmet Okay Cağlayan Sarenur Gökben Hande Kaymakçalan Tanyeri Barak Mehmet Bakircioğlu Katsuhito Yasuno Winson Ho Stephan Sanders Ying Zhu Sanem Yilmaz Alp Dinçer Michele H Johnson Richard A Bronen Naci Koçer Hüseyin Per Shrikant Mane Mehmet Necmettin Pamir Cengiz Yalçinkaya Sefer Kumandaş Meral Topçu Meral Ozmen Nenad Sestan Richard P Lifton Matthew W State Murat Günel

Nature 2010 Sep 22;467(7312):207-10. Epub 2010 Aug 22.

Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

View Article and Find Full Text PDF
September 2010

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Authors:
Michael R Rossi Miriam S DiMaio Bixia Xiang Kangmo Lu Hande Kaymakcalan Margretta Seashore Maurice J Mahoney Peining Li

Am J Med Genet A 2009 Dec;149A(12):2788-94

Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.

View Article and Find Full Text PDF
December 2009

Epidemiology of superficial mycosis (tinea pedis, onychomycosis) in elementary school children in Istanbul, Turkey.

Authors:
Bilge Hapcioglu Yildiz Yegenoglu Rian Disci Zayre Erturan Hande Kaymakcalan

Coll Antropol 2006 Mar;30(1):119-24

Department of Public Health, Faculty of Medicine, University of Istanbul, Istanbul, Turkey.

View Article and Find Full Text PDF
March 2006