Haluk Kavus

Affiliations

Department of Pediatrics, Columbia University, New York, New York, USA.

Publications (9)

Delineating the genotypic and phenotypic spectrum of

Journal of medical genetics

Avec: Anushree Acharya , Haluk Kavus , Patrick Dunn , Abdul Nasir , Leandra Folk , Kara Withrow , Ingrid M Wentzensen , Maura R Z Ruzhnikov , Camille Fallot , Thomas Smol , Mélanie Rama , Kathleen Brown , Sandra Whalen , Alban Ziegler , Magali Barth , Anna Chassevent , Constance Smith-Hicks , Alexandra Afenjar , Thomas Courtin , Solveig Heide , Esperanza Font-Montgomery , Caleb Heid , J Austin Hamm , Donald R Love , Farouq Thabet , Vinod K Misra , Mitch Cunningham , Suzanne M Leal , Irma Jarvela , Elizabeth A Normand , Fanggeng Zou , Mayada Helal , Boris Keren , Erin Torti , Wendy K Chung , Isabelle Schrauwen

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Acta neurologica Belgica

Avec: Ahmet Cevdet Ceylan , Elif Acar Arslan , Haktan Bağış Erdem , Haluk Kavus , Mutluay Arslan , Haluk Topaloğlu

One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome.

Journal of audiology & otology

Avec: F Ceyda Akin Ocal , Haluk Kavus , Bulent Satar , Davut Pehli van

Neurodevelopmental phenotypes associated with pathogenic variants in

Journal of medical genetics

Avec: Ashley Kahen , Haluk Kavus , Alexa Geltzeiler , Catherine Kentros , Cora Taylor , Elizabeth Brooks , LeeAnne Green Snyder , Wendy Chung

Updates in Immunohistochemistry for Hematopoietic and Lymphoid Neoplasms.

Archives of pathology & laboratory medicine

Avec: Haluk Kavus , Yi Ding , Mary Dhesi

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

JAMA

Avec: Alban Ziegler , Carrie Koval-Burt , Denise M Kay , Sharon F Suchy , Amber Begtrup , Katherine G Langley , Rebecca Hernan , Laura M Amendola , Brenna M Boyd , Jennifer Bradley , Tracy Brandt , Lilian L Cohen , Alison J Coffey , Joseph M Devaney , Beata Dygulska , Bethany Friedman , Ramsay L Fuleihan , Awura Gyimah , Sihoun Hahn , Sean Hofherr , Kathleen S Hruska , Zhanzhi Hu , Médéric Jeanne , Guanjun Jin , D Aaron Johnson , Haluk Kavus , Rudolph L Leibel , Steven J Lobritto , Stephen McGee , Joshua D Milner , Kirsty McWalter , Kristin G Monaghan , Jordan S Orange , Nicole Pimentel Soler , Yeyson Quevedo , Samantha Ratner , Kyle Retterer , Ankur Shah , Natasha Shapiro , Robert J Sicko , Eric S Silver , Samuel Strom , Rebecca I Torene , Olatundun Williams , Vincent D Ustach , Julia Wynn , Ryan J Taft , Paul Kruszka , Michele Caggana , Wendy K Chung

Neurodevelopmental phenotypes in individuals with pathogenic variants in

Cold Spring Harbor molecular case studies

Avec: Madison Garrity , Haluk Kavus , Marta Rojas-Vasquez , Irene Valenzuela , Austin Larson , Sara Reed , Gary Bellus , Cyril Mignot , Arnold Munnich , Bertrand Isidor , Wendy K Chung

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Clinical genetics

Avec: Mohammed Almannai , Dana Marafi , Ghada M H Abdel-Salam , Maha S Zaki , Ruizhi Duan , Daniel Calame , Isabella Herman , Felix Levesque , Hasnaa M Elbendary , Ibrahim Hegazy , Wendy K Chung , Haluk Kavus , Kolsoum Saeidi , Reza Maroofian , Aqeela AlHashim , Ali Al-Otaibi , Asma Al Madhi , Hager M Abou Al-Seood , Ali Alasmari , Henry Houlden , Joseph G Gleeson , Jill V Hunter , Jennifer E Posey , James R Lupski , Ayman W El-Hattab

Clinical and genomic characterization of 8p cytogenomic disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Volkan Okur , Laura Hamm , Haluk Kavus , Caroline Mebane , Scott Robinson , Brynn Levy , Wendy K Chung

Réseau de co-auteurs

Wendy K Chung 5 collaborations

Alban Ziegler 2 collaborations

Anushree Acharya 1 collaboration

Patrick Dunn 1 collaboration

Abdul Nasir 1 collaboration

Leandra Folk 1 collaboration

Kara Withrow 1 collaboration

Ingrid M Wentzensen 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Camille Fallot 1 collaboration

Thomas Smol 1 collaboration

Mélanie Rama 1 collaboration

Kathleen Brown 1 collaboration

Sandra Whalen 1 collaboration

Magali Barth 1 collaboration

Anna Chassevent 1 collaboration

Constance Smith-Hicks 1 collaboration

Alexandra Afenjar 1 collaboration

Thomas Courtin 1 collaboration

Solveig Heide 1 collaboration

Esperanza Font-Montgomery 1 collaboration

Caleb Heid 1 collaboration

J Austin Hamm 1 collaboration

Donald R Love 1 collaboration

Farouq Thabet 1 collaboration

Vinod K Misra 1 collaboration

Mitch Cunningham 1 collaboration

Suzanne M Leal 1 collaboration

Irma Jarvela 1 collaboration

Elizabeth A Normand 1 collaboration

Fanggeng Zou 1 collaboration

Mayada Helal 1 collaboration

Boris Keren 1 collaboration

Erin Torti 1 collaboration

Isabelle Schrauwen 1 collaboration

Ahmet Cevdet Ceylan 1 collaboration

Elif Acar Arslan 1 collaboration

Haktan Bağış Erdem 1 collaboration

Mutluay Arslan 1 collaboration

Haluk Topaloğlu 1 collaboration

F Ceyda Akin Ocal 1 collaboration

Bulent Satar 1 collaboration

Davut Pehli van 1 collaboration

Ashley Kahen 1 collaboration

Alexa Geltzeiler 1 collaboration

Catherine Kentros 1 collaboration

Cora Taylor 1 collaboration

Elizabeth Brooks 1 collaboration

LeeAnne Green Snyder 1 collaboration

Wendy Chung 1 collaboration

Yi Ding 1 collaboration

Mary Dhesi 1 collaboration

Carrie Koval-Burt 1 collaboration

Denise M Kay 1 collaboration

Sharon F Suchy 1 collaboration

Amber Begtrup 1 collaboration

Katherine G Langley 1 collaboration

Rebecca Hernan 1 collaboration

Laura M Amendola 1 collaboration

Brenna M Boyd 1 collaboration

Jennifer Bradley 1 collaboration

Tracy Brandt 1 collaboration

Lilian L Cohen 1 collaboration

Alison J Coffey 1 collaboration

Joseph M Devaney 1 collaboration

Beata Dygulska 1 collaboration

Bethany Friedman 1 collaboration

Ramsay L Fuleihan 1 collaboration

Awura Gyimah 1 collaboration

Sihoun Hahn 1 collaboration

Sean Hofherr 1 collaboration

Kathleen S Hruska 1 collaboration

Zhanzhi Hu 1 collaboration

Médéric Jeanne 1 collaboration

Guanjun Jin 1 collaboration

D Aaron Johnson 1 collaboration

Rudolph L Leibel 1 collaboration

Steven J Lobritto 1 collaboration

Stephen McGee 1 collaboration

Joshua D Milner 1 collaboration

Kirsty McWalter 1 collaboration

Kristin G Monaghan 1 collaboration

Jordan S Orange 1 collaboration

Nicole Pimentel Soler 1 collaboration

Yeyson Quevedo 1 collaboration

Samantha Ratner 1 collaboration

Kyle Retterer 1 collaboration

Ankur Shah 1 collaboration

Natasha Shapiro 1 collaboration

Robert J Sicko 1 collaboration

Eric S Silver 1 collaboration

Samuel Strom 1 collaboration

Rebecca I Torene 1 collaboration

Olatundun Williams 1 collaboration

Vincent D Ustach 1 collaboration

Julia Wynn 1 collaboration

Ryan J Taft 1 collaboration

Paul Kruszka 1 collaboration

Michele Caggana 1 collaboration

Madison Garrity 1 collaboration

Marta Rojas-Vasquez 1 collaboration

Irene Valenzuela 1 collaboration

Austin Larson 1 collaboration

Sara Reed 1 collaboration

Gary Bellus 1 collaboration

Cyril Mignot 1 collaboration

Arnold Munnich 1 collaboration

Bertrand Isidor 1 collaboration

Mohammed Almannai 1 collaboration

Dana Marafi 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

Maha S Zaki 1 collaboration

Ruizhi Duan 1 collaboration

Daniel Calame 1 collaboration

Isabella Herman 1 collaboration

Felix Levesque 1 collaboration

Hasnaa M Elbendary 1 collaboration

Ibrahim Hegazy 1 collaboration

Kolsoum Saeidi 1 collaboration

Reza Maroofian 1 collaboration

Aqeela AlHashim 1 collaboration

Ali Al-Otaibi 1 collaboration

Asma Al Madhi 1 collaboration

Hager M Abou Al-Seood 1 collaboration

Ali Alasmari 1 collaboration

Henry Houlden 1 collaboration

Joseph G Gleeson 1 collaboration

Jill V Hunter 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Ayman W El-Hattab 1 collaboration

Volkan Okur 1 collaboration

Laura Hamm 1 collaboration

Caroline Mebane 1 collaboration

Scott Robinson 1 collaboration

Brynn Levy 1 collaboration