Maria J Guillen Sacoto - Publications, H-index & Citations

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Maria J Guillen Sacoto

GeneDx LLC

3H-index

9Paper Count

24Citation Count

Published Papers 3

Publication Date

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

The American Journal of Human Genetics

IF0

2025-09-30

OAAI

Esra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie; Luis F. Escobar; Rachel Gosselin; Maria J. Guillen Sacoto; Cynthia D. Haag; Lisa Herzig; Ramanand Jeeneea; Priti Kenia; Konstantinos Kolokotronis; Anna M. Kopps; Christin Kupper; Hayley Lees; Jacqueline Leonard; Jonathan Levy; Rebecca Littlejohn; Demian Mayer; Scott D. McLean; Nikhil Pattani; Laurence Perrin; Véronique Pingault; Chloé Quelin; Emmanuelle Ranza; Anita Rauch; Sara L. Reichert; Joana Rosmaninho-Salgado; Cara Skraban; Sérgio Sousa; Melissa Stuebben; Paolo Zanoni; Raymond H. Kim; Ian C. Scott; Rebekah K. Jobling

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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly and growth retardation

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2025-07-01

OAAI

Mcgivern, Bobbi; Holling, Tess; Sacoto, Maria J. Guillen; Gudbjartsson, Hakon; Abdelrazek, Ibrahim M.; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E.; Dyer, Lisa M.; Henderson, Lindsay B.; Irons, Mira; Kutsche, Kerstin; Mcgowan, Caroline; Monaghan, Kristin G.; O'Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L.; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M.

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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-01-01

OAAI

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.

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Research Directions