Paul R Mark - Division of Medical Genetics Helen DeVos Children's Hospital, Spectrum Health

基本信息

浏览量：6

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 43 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Rare Loss-of-function Variants in DOCK4 Lead to Neurodevelopmental Delay

Henry Oppermann, Charlotte Herbst,Meret Wegler,Viktoria Bothe,Heinrich Sticht,Jozef Gecz,Clare van Eyk,SeSong Jang,Somayeh Bakhtiari,Myriam Vezain,Mathilde Nizon,Pascale Saugier-Veber,Megan Li,Paul Mark,Alina Kurolap,Isabelle Thiffault,Rami Abou Jamra

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 459-459

引用0浏览0引用

Gain and Loss of Function Variants in EZH1 Disrupt Neurogenesis and Cause Dominant and Recessive Neurodevelopmental Disorders

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang,Reza Maroofian,Paula Espana-Bonilla,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A. Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E. Sheppard,Paul Mark,Margaret H. Harr,Hakon Hakonarson,Lance Rodan,Adam Jackson,Pradeep Vasudevan, Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A. Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman,Shazia Maqbool,Vincenzo Salpietro,Shahnaz H. Ibrahim,Gabriella di Rosa,Henry Houlden, Maha Nasser Alharbi,Nouriya Abbas Al-Sannaa,Peter Bauer,Giovanni Zifarelli,Conchi Estaras,Anna C. E. Hurst,Michelle L. Thompson,Anna Chassevent,Constance L. Smith-Hicks,Xavier de la Cruz,Alexander M. Holtz,Houda Zghal Elloumi,M J Hajianpour,Claudine Rieubland,Dominique Braun,Siddharth Banka,J. C. Ambrose,Deborah L. French,Elizabeth A. Heller,Murielle Saade,Hongjun Song,Guo-li Ming,Fowzan S. Alkuraya,Pankaj B. Agrawal,Danny Reinberg,Elizabeth J. Bhoj,Marian A. Martínez-Balbás,Naiara Akizu

Nature Communicationsno. 1 (2023)

引用1浏览0WOSNATURE引用

Autosomal Recessive LRP1-related Syndrome Featuring Cardiopulmonary Dysfunction, Bone Dysmorphology, and Corneal Clouding

Paul R. Mark,Stephen A. Murray,Tao Yang,Alexandra Eby,Angela Lai,Di Lu,Jacob Zieba,Surender Rajasekaran,Elizabeth A. VanSickle,Linda Z. Rossetti,Lucia Guidugli,Kelly Watkins,Meredith S. Wright,Caleb P. Bupp,Jeremy W. Prokop

COLD SPRING HARBOR MOLECULAR CASE STUDIES（2022）

引用3浏览0WOS引用

Further Characterization of Borjeson-Forssman-Lehmann Syndrome in Females Due to De Novo Variants in PHF6

Celine Gerber,Anna Fliedner,Oliver Bartsch,Siren Berland,Malin Dewenter,Marte Haug,Ian Hayes,Paul Mark,Isabelle Maystadt,Deniz Karadurmus,Katharina Steindl,Antje Wiesener,Markus Zweier,Heinrich Sticht,Christiane Zweier

Clinical Genetics（2022）

引用8浏览0WOS引用

NAD+ Deficiency in Human Congenital Malformations and Miscarriage: A New Model of Pleiotropy

Paul R. Mark

American Journal of Medical Genetics Part A（2022）

引用7浏览0WOS引用

Genomic and Phenotypic Characterization of 404 Individuals with Neurodevelopmental Disorders Caused by CTNNB1 Variants

Sayaka Kayumi,Luis A. Perez-Jurado,Maria Palomares,Sneha Rangu,Sarah E. Sheppard,Wendy K. Chung,Michael C. Kruer,Mira Kharbanda,David J. Amor,George McGillivray,Julie S. Cohen,Sixto Garcia-Minaur,Clare L. van Eyk,Kelly Harper,Lachlan A. Jolly,Dani L. Webber,Christopher P. Barnett,Fernando Santos-Simarro,Marta Pacio-Miguez,Angela del Pozo,Somayeh Bakhtiari,Matthew Deardorff,Holly A. Dubbs,Kosuke Izumi,Katheryn Grand,Christopher Gray,Paul R. Mark,Elizabeth J. Bhoj,Dong Li,Xilma R. Ortiz-Gonzalez,Beth Keena,Elaine H. Zackai,Ethan M. Goldberg,Guiomar Perez de Nanclares,Arrate Pereda,Isabel Llano-Rivas,Ignacio Arroyo, Maria Angeles Fernandez-Cuesta,Christel Thauvin-Robinet,Laurence Faivre,Aurore Garde,Benoit Mazel,Ange-Line Bruel,Michael L. Tress,Eva Brilstra,Amena Smith Fine,Kylie E. Crompton,Alexander P. A. Stegmann,Margje Sinnema,Servi C. J. Stevens,Joost Nicolai,Gaetan Lesca,Laurence Lion-Francois,Damien Haye,Nicolas Chatron,Amelie Piton,Mathilde Nizon,Benjamin Cogne,Siddharth Srivastava,Jennifer Bassetti,Candace Muss,Karen W. Gripp,Rebecca A. Procopio,Francisca Millan,Michelle M. Morrow,Melissa Assaf,Andres Moreno-De-Luca,Shelagh Joss,Mark J. Hamilton,Marta Bertoli,Nicola Foulds,Shane McKee,Alastair H. MacLennan,Jozef Gecz,Mark A. Corbett

Genetics in Medicine（2022）

引用23浏览0WOS引用

Viewing Teratogens Through the Lens of Nicotinamide Adenine Dinucleotide (NAD+)

Paul R. Mark,Sally L. Dunwoodie

Birth Defects Researchno. 20 (2022): 1313-1323

引用5浏览0WOS引用

Biallelic and Monoallelic Variants in PLXNA1 Are Implicated in a Novel Neurodevelopmental Disorder with Variable Cerebral and Eye Anomalies

Gabriel C. Dworschak,Jaya Punetha,Jeshurun C. Kalanithy,Enrico Mingardo,Haktan B. Erdem,Zeynep C. Akdemir,Ender Karaca,Tadahiro Mitani,Dana Marafi,Jawid M. Fatih,Shalini N. Jhangiani,Jill V. Hunter,Tikam Chand Dakal,Bhanupriya Dhabhai,Omar Dabbagh,Hessa S. Alsaif,Fowzan S. Alkuraya,Reza Maroofian,Henry Houlden,Stephanie Efthymiou,Natalia Dominik,Vincenzo Salpietro,Tipu Sultan,Shahzad Haider,Farah Bibi,Holger Thiele,Julia Hoefele,Korbinian M. Riedhammer,Matias Wagner,Ilaria Guella,Michelle Demos,Boris Keren,Julien Buratti,Perrine Charles,Caroline Nava,Delphine Héron,Solveig Heide,Elise Valkanas,Leigh B. Waddell,Kristi J. Jones,Emily C. Oates,Sandra T. Cooper,Daniel MacArthur,Steffen Syrbe,Andreas Ziegler,Konrad Platzer,Volkan Okur,Wendy K. Chung,Sarah A. O’Shea,Roy Alcalay,Stanley Fahn,Paul R. Mark,Renzo Guerrini,Annalisa Vetro,Beth Hudson,Rhonda E. Schnur,George E. Hoganson,Jennifer E. Burton,Meriel McEntagart,Tobias Lindenberg,Öznur Yilmaz,Benjamin Odermatt,Davut Pehlivan,Jennifer E. Posey,James R. Lupski,Heiko Reutter

Genetics in Medicine（2021）

引用27浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn