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个人简介
My research lab is focused on elucidating the molecular etiologies of syndromic and non-syndromic human developmental disorders and birth defects. Towards this end we have major projects focused on: 1) understanding the genome-wide implications of alterations in the cohesin complex and its regulation in causing the phenotypic differences seen in Cornelia de Lange Syndrome (CdLS), 2) Characterizing the effects on genome-wide expression in the Pallister-Killian Syndrome (PKS) and defining a minimal critical region on chromosome 12p, 3) Identification of novel genes for non-syndromic sensorineural hearing loss through standard positional cloning, genome-wide copy number variation (CNV) analysis and association studies and 4) Identifying conserved non-coding element disruptions as a cause of isolated non-syndromic congenital heart defects.
In addition we are studying the issues centered around the introduction of exome and genome sequencing into pediatric practice and how to establish best practice guidlines.
Description of Clinical Expertise
As a pediatrician and clinical geneticist, my clinical interests are mainly focused on dysmorphology and pediatric genetic disorders. While I see children with any findings suggestive of an underlying genetic etiology, I also have multispecialty clinics for children with several of the diagnoses that we have targeted research interest in such as Alagille syndrome, Cornelia de Lange syndrome, Pallister Killian syndrome and related diagnoses. We have been able to establish an endowed Center for Cornelia de Lange Syndrome and Related Diagnoses to better care for children with complex developmental diagnoses and to forward efforts in clinical and basic science research to expedite the development of therapeutics. I also run a dedicated genetic clinic for children with sensorineural hearing loss.
In addition we are studying the issues centered around the introduction of exome and genome sequencing into pediatric practice and how to establish best practice guidlines.
Description of Clinical Expertise
As a pediatrician and clinical geneticist, my clinical interests are mainly focused on dysmorphology and pediatric genetic disorders. While I see children with any findings suggestive of an underlying genetic etiology, I also have multispecialty clinics for children with several of the diagnoses that we have targeted research interest in such as Alagille syndrome, Cornelia de Lange syndrome, Pallister Killian syndrome and related diagnoses. We have been able to establish an endowed Center for Cornelia de Lange Syndrome and Related Diagnoses to better care for children with complex developmental diagnoses and to forward efforts in clinical and basic science research to expedite the development of therapeutics. I also run a dedicated genetic clinic for children with sensorineural hearing loss.
研究兴趣
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AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2024): e63530-e63530
Anna Fetta,Francesco Toni, Ilaria Pettenuzzo,Emilia Ricci,Alessandro Rocca, Caterina Gambi,Luca Soliani,Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo,Patrizia Accorsi,
Morad Ansari, Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik, Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,
HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2024): 100273-100273
Julia Keisling,Emma Bedoukian,Danielle S. Burstein,J. William Gaynor, Christopher Gray,Ian Krantz,Kosuke Izumi, Jacqueline Leonard,Kimberly Y. Lin,Livija Medne, Christine Seymour,Cara Skraban,
Maninder Kaur,Justin Blair,Batsal Devkota,Sierra Fortunato,Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz,Devanshi Mehta,Nobuko Yamamoto,
American journal of medical genetics. Part Ano. 8 (2023): 2113-2131
Nobuko Yamamoto,Jorune Balciuniene,Tiffiney Hartman,Maria Alejandra Diaz-Miranda,Emma Bedoukian,Batsal Devkota, Audrey Lawrence, Netta Golenberg,Maha Patel,Archana Tare,Robert Chen,Emma Schindler,
The Journal of pediatrics (2023): 113620-113620
Eva Niggl,Arjan Bouman,Lauren C Briere, Remco M Hoogenboezem,Ilse Wallaard,Joohyun Park,Jakob Admard,Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma,Jennifer Bain,Meena Balasubramanian,
American journal of human geneticsno. 8 (2023): 1414-1435
Alison Coffey,Ian Krantz,Luca Brunelli,David Dimmock,Marwan Shinawi,Nora Urraca,Chester Brown,John Belmont,Julia Ortega, Keisha Robinson,Denise Perry, Subramanian Ajay,
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 37-37
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Siddharth Banka, Abigail Bennington,Martin Baker,Ellen Rijckmans,Giuliana Clemente, Nurhuda Ansor,Hilary Sito,Pritha Prasad,Kwame Anyane-Yeboa,Lauren Badalato,Boyan Dimitrov,David FitzPatrick,
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 27-27
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