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Papers共 29 篇Author StatisticsCo-AuthorSimilar Experts

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A Proposed Role for CDO1 in CNS Development: Three Children with Rare Missense Variants and a Neurological Phenotype
Leah Rowe,Sureni V Mullegama, Rachel Lombardo, Caitlin Barnes,Shelley Towner, Matthew T Snyder, Alexis Heidlebaugh, Heather Riordan,Amber Begtrup,Amy Crunk, Hong Cui, Amy E Dameron,Leandra Folk,Maria J Guillen Sacoto,Jane Juusola, Olivia L Redlich,Adi Reich, Bobbi McGivern
HGG advancesno. 2 (2025): 100417-100417
Cited0Views0WOSBibtex
0
0
Homozygous Variants in EIF3K Associated with Neurodevelopmental Delay, Microcephaly, and Growth Retardation
Bobbi McGivern, Tess Holling, Maria J Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M Abdelrazek,Malik Alawi, Yan Bai,Olaf Bodamer,Amy Crunk, Amy E Dameron, Lisa M Dyer,Lindsay B Henderson, Mira Irons,Kerstin Kutsche, Caroline McGowan,Kristin G Monaghan, Kaitlyn O'Connor,Asma Rashid, Olivia L Redlich,Adi Reich, Christopher Simotas, Sara Welner,Ingrid M Wentzensen
HGG advancesno. 3 (2025): 100438-100438
Cited0Views0WOSBibtex
0
0
Bi-allelic Variants in SPATA5L1 Lead to Intellectual Disability, Spastic-Dystonic Cerebral Palsy, Epilepsy, and Hearing Loss
Elodie M. Richard,Somayeh Bakhtiari,Ashley P. L. Marsh,Rauan Kaiyrzhanov,Matias Wagner,Sheetal Shetty,Alex Pagnozzi,Sandra M. Nordlie,Brandon S. Guida,Patricia Cornejo,Helen Magee,James Liu,Bethany Y. Norton, Richard Webster,Lisa Worgan,Hakon Hakonarson,Jiankang Li,Yiran Guo,Mahim Jain,Alyssa Blesson,Lance H. Rodan,Mary-Alice Abbott,Anne Comi,Julie S. Cohen,Bader Alhaddad,Thomas Meitinger,Dominic Lenz,Andreas Ziegler,Urania Kotzaeridou,Theresa Brunet,Anna Chassevent,Constance Smith-Hicks,Joseph Ekstein,Tzvi Weiden,Andreas Hahn,Nazira Zharkinbekova,Peter Turnpenny,Arianna Tucci,Melissa Yelton,Rita Horvath,Serdal Gungor,Semra Hiz,Yavuz Oktay,Hanns Lochmuller,Marcella Zollino, ManuelaMorleo,Giuseppe Marangi,Vincenzo Nigro,Annalaura Torella,Michele Pinelli,Simona Amenta,Ralf A. Husain,Benita Grossmann,Marion Rapp,Claudia Steen,Iris Marquardt,Mona Grimmel,Ute Grasshoff,G. Christoph Korenke,Marta Owczarek-Lipska,John Neidhardt,Francesca Clementinac Radio,Cecilia Mancini, Dianela Judith Claps Sepulveda,Kirsty Mc Walter,Amber Begtrup,Amy Crunk,Maria J. Guillen Sacoto,Richard Person,Rhonda E. Schnur,Maria Margherita Mancardi,Florian Kreuder,Pasquale Striano,Federico Zara,Wendy K. Chung,Warren A. Marks,Clare L. van Eyk,Dani L. Webber,Mark A. Corbett,Kelly Harper,Jesia G. Berry, Alastair H. Mac Lennan,Jozef Gecz,Marco Tartaglia,Vincenzo Salpietro,John Christodoulou,Jan Kaslin,Sergio Padilla-Lopez,Kaya Bilguvar,Alexander Munchau,Zubair M. Ahmed,Robert B. Hufnagel,Michael C. Fahey,Reza Maroofian,Henry Houlden,Heinrich Sticht,Shrikant M. Mane, Aboulfaz LRad,Barbara Vona,Sheng Chih Jin,Tobias B. Haack,Christine Makowski,Yoel Hirsch,Saima Riazuddin,Michael C. Kruer
The American Journal of Human Genetics（2021）
Cited16Views0WOSBibtex
16
0
Delineating the Molecular and Phenotypic Spectrum of the SETD1B-related Syndrome
Marjolein J. A. Weerts,Kristina Lanko,Francisco J. Guzmán-Vega,Adam Jackson,Reshmi Ramakrishnan,Kelly J. Cardona-Londoño,Karla A. Peña-Guerra,Yolande van Bever, Barbara W. van Paassen,Anneke Kievit,Marjon van Slegtenhorst,Nicholas M. Allen, Caroline M. Kehoe,Hannah K. Robinson,Lewis Pang,Selina H. Banu,Mashaya Zaman,Stephanie Efthymiou,Henry Houlden,Irma Järvelä,Leena Lauronen,Tuomo Määttä,Isabelle Schrauwen,Suzanne M. Leal,Claudia A. L. Ruivenkamp,Daniela Q.C.M. Barge-Schaapveld,Cacha M. P. C. D. Peeters-Scholte,Hamid Galehdari,Neda Mazaheri,Sanjay M. Sisodiya,Victoria Harrison,Angela Sun,Jenny Thies,Luis Alberto Pedroza, Yana Lara-Taranchenko,Ivan K. Chinn,James R. Lupski,Alexandra Garza-Flores, Jeffery McGlothlin,Lin Yang,Shaoping Huang,Xiaodong Wang,Tamison Jewett, Gretchen Rosso,Xi Lin,Shehla Mohammed,J. Lawrence Merritt II,Ghayda M. Mirzaa,Andrew E. Timms,Joshua Scheck,Mariet W. Elting,Abeltje M. Polstra, Lauren Schenck,Maura R. Z. Ruzhnikov,Annalisa Vetro,Martino Montomoli,Renzo Guerrini,Daniel C. Koboldt,Theresa Mihalic Mosher,Matthew T. Pastore,Kim L. McBride,Jing Peng,Zou Pan,Marjolein Willemsen, Susanne Koning,Peter D. Turnpenny,Bert B. A. de Vries,Christian Gilissen,Rolph Pfundt,Melissa Lees,Stephen R. Braddock, Kara C. Klemp,Fleur Vansenne,Marielle E. van Gijn,Catherine Quindipan,Matthew A. Deardorff,J. Austin Hamm,Abbey M. Putnam,Rebecca Baud,Laurence Walsh,Sally A. Lynch,Julia Baptista,Richard E. Person,Kristin G. Monaghan,Amy Crunk,Jennifer Keller-Ramey,Adi Reich,Houda Zghal Elloumi,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Sadegheh Haghshenas,Reza Maroofian,Bekim Sadikovic,Siddharth Banka,Stefan T. Arold,Tahsin Stefan Barakat
Genetics in Medicine（2021）
Cited23Views0WOSBibtex
23
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Author Statistics

#Papers: 29

#Citation: 504

H-Index: 13

G-Index: 21

Sociability: 7

Diversity: 2

Activity: 10

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