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Papers共 11 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Deleterious, Protein-Altering Variants in the Transcriptional Coregulator ZMYM3 in 27 Individuals with a Neurodevelopmental Delay Phenotype
Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,Jennifer L. Berkowitz,Michael J. Betti,Alfredo Brusco,Ashley Cannon,Giulia Caron,Yanmin Chen,Meagan E. Cochran,Tanner F. Coleman,Molly M. Crenshaw,Laurence Cuisset,Cynthia J. Curry,Hossein Darvish,Serwet Demirdas,Maria Descartes,Jessica Douglas,David A. Dyment,Houda Zghal Elloumi,Giuseppe Ermondi,Marie Faoucher,Emily G. Farrow,Stephanie A. Felker,Heather Fisher,Anna C. E. Hurst,Pascal Joset,Melissa A. Kelly,Stanislav Kmoch, Benjamin R. Leadem,Michael J. Lyons,Marina Macchiaiolo,Martin Magner,Giorgia Mandrile,Francesca Mattioli,Megan McEown,Sarah K. Meadows,Livija Medne,Naomi J. L. Meeks,Sarah Montgomery,Melanie P. Napier,Marvin Natowicz,Kimberly M. Newberry,Marcello Niceta,Lenka Noskova,Catherine B. Nowak,Amanda G. Noyes,Matthew Osmond,Eloise J. Prijoles,Jada Pugh,Verdiana Pullano,Chloe Quelin,Simin Rahimi-Aliabadi,Anita Rauch,Sylvia Redon,Alexandre Reymond,Caitlin R. Schwager,Elizabeth A. Sellars,Angela E. Scheuerle, Elena Shukarova-Angelovska,Cara Skraban,Elliot Stolerman,Bonnie R. Sullivan,Marco Tartaglia,Isabelle Thiffault,Kevin Uguen,Luis A. Umana,Yolande van Bever,Saskia N. van der Crabben,Marjon A. van Slegtenhorst,Quinten Waisfisz,Camerun Washington,Lance H. Rodan,Richard M. Myers,Gregory M. Cooper
AMERICAN JOURNAL OF HUMAN GENETICS（2023）
Cited8Views0WOSBibtex
8
0
Genomic Answers for Children: Dynamic Analyses of >1000 Pediatric Rare Disease Genomes
Ana S. A. Cohen,Emily G. Farrow,Ahmed T. Abdelmoity,Joseph T. Alaimo,Shivarajan M. Amudhavalli,John T. Anderson,Lalit Bansal,Lauren Bartik,Primo Baybayan,Bradley Belden,Courtney D. Berrios,Rebecca L. Biswell,Pawel Buczkowicz,Orion Buske,Shreyasee Chakraborty,Warren A. Cheung,Keith A. Coffman,Ashley M. Cooper,Laura A. Cross,Tom Curran,Thuy Tien T. Dang,Mary M. Elfrink,Kendra L. Engleman,Erin D. Fecske,Cynthia Fieser,Keely Fitzgerald,Emily A. Fleming,Randi N. Gadea,Jennifer L. Gannon,Rose N. Gelineau-Morel,Margaret Gibson,Jeffrey Goldstein,Elin Grundberg,Kelsee Halpin,Brian S. Harvey,Bryce A. Heese,Wendy Hein,Suzanne M. Herd,Susan S. Hughes,Mohammed Ilyas,Jill Jacobson,Janda L. Jenkins,Shao Jiang,Jeffrey J. Johnston,Kathryn Keeler,Jonas Korlach,Jennifer Kussmann,Christine Lambert,Caitlin Lawson,Jean-Baptiste Le Pichon,James Steven Leeder,Vicki C. Little,Daniel A. Louiselle,Michael Lypka,Brittany D. McDonald,Neil Miller,Ann Modrcin,Annapoorna Nair,Shelby H. Neal,Christopher M. Oermann,Donna M. Pacicca,Kailash Pawar,Nyshele L. Posey,Nigel Price,Laura M. B. Puckett,Julio F. Quezada,Nikita Raje,William J. Rowell,Eric Rush,Venkatesh Sampath,Carol J. Saunders,Caitlin Schwager,Richard M. Schwend,Elizabeth Shaffer,Craig Smail,Sarah Soden,Meghan E. Strenk,Bonnie R. Sullivan,Brooke R. Sweeney,Jade B. Tam-Williams,Adam M. Walter,Holly Welsh,Aaron M. Wenger,Laurel K. Willig,Yun Yan,Scott T. Younger,Dihong Zhou,Tricia N. Zion,Isabelle Thiffault,Tomi Pastinen
Genetics in Medicineno. 6 (2022): 1336-1348
Cited32Views0WOSBibtex
32
0
Mutation-specific Pathophysiological Mechanisms Define Different Neurodevelopmental Disorders Associated with SATB1 Dysfunction
Joery den Hoed,Elke de Boer,Norine Voisin,Alexander J. M. Dingemans,Nicolas Guex,Laurens Wiel,Christoffer Nellaker,Shivarajan M. Amudhavalli,Siddharth Banka,Frederique S. Bena,Bruria Ben-Zeev,Vincent R. Bonagura,Ange-Line Bruel,Theresa Brunet,Han G. Brunner,Hui B. Chew,Jacqueline Chrast,Loreta Cimbalistiene,Hilary Coon, Emmanuelle C. Delot,Florence Demurger,Anne-Sophie Denomme-Pichon,Christel Depienne,Dian Donnai,David A. Dyment,Orly Elpeleg,Laurence Faivre,Christian Gilissen,Leslie Granger,Benjamin Haber,Yasuo Hachiya,Yasmin Hamzavi Abedi, Jennifer Hanebeck,Jayne Y. Hehir-Kwa,Brooke Horist,Toshiyuki Itai,Adam Jackson,Rosalyn Jewell,Kelly L. Jones,Shelagh Joss,Hirofumi Kashii,Mitsuhiro Kato,Anja A. Kattentidt-Mouravieva,Fernando Kok,Urania Kotzaeridou,Vidya Krishnamurthy,Vaidutis Kucinskas,Alma Kuechler,Alinoe Lavillaureix,Pengfei Liu,Linda Manwaring,Naomichi Matsumoto,Benoit Mazel,Kirsty McWalter,Vardiella Meiner,Mohamad A. Mikati,Satoko Miyatake,Takeshi Mizuguchi, Lip H. Moey,Shehla Mohammed,Hagar Mor-Shaked,Hayley Mountford,Ruth Newbury-Ecob,Sylvie Odent,Laura Orec,Matthew Osmond,Timothy B. Palculict,Michael Parker,Andrea K. Petersen,Rolph Pfundt,Egle Preiksaitiene,Kelly Radtke,Emmanuelle Ranza,Jill A. Rosenfeld,Teresa Santiago-Sim,Caitlin Schwager,Margje Sinnema,Lot Snijders Blok,Rebecca C. Spillmann,Alexander P. A. Stegmann,Isabelle Thiffault,Linh Tran,Adi Vaknin-Dembinsky,Juliana H. Vedovato-dos-Santos,Samantha A. Schrier Vergano,Eric Vilain,Antonio Vitobello,Matias Wagner,Androu Waheeb,Marcia Willing,Britton Zuccarelli,Usha Kini,Dianne F. Newbury,Tjitske Kleefstra,Alexandre Reymond,Simon E. Fisher,Lisenka E. L. M. Vissers
AMERICAN JOURNAL OF HUMAN GENETICS（2021）
Cited32Views0WOSBibtex
32
0
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Author Statistics

#Papers: 11

#Citation: 104

H-Index: 6

G-Index: 7

Sociability: 6

Diversity: 2

Activity: 9

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