Publications by authors named "Kristin Monaghan"

Claim this Profile
P
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Kristin G Monaghan

Genet Med· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, Jennifer A Sullivan, Katerina S Kucera, Kristin G Monaghan

Nat Med· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Kristin G Monaghan

Nat Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Kristin G Monaghan

Nat Commun· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Kristin G Monaghan

Nat Commun· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
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, Kristin G Monaghan

HGG Adv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.
Erin Torti, Sureni V Mullegama, Isabelle De Bie, Angelique Mercier, Deanna Alexis Carere, Kristin G Monaghan

HGG Adv· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Kristin G Monaghan

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Alban Ziegler, Carrie Koval-Burt, Denise M Kay, Sharon F Suchy, Amber Begtrup, Kristin G Monaghan

JAMA· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MGA-related syndrome: A proposed novel disorder.
Bobbi McGivern, Michelle M Morrow, Erin Torti, Kirsty McWalter, Ingrid M Wentzensen, Kristin G Monaghan

HGG Adv· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Marlène Malbos, Gabriella Vera, Harsh Sheth, Rhonda E Schnur, Aurélien Juven, Kristin G Monaghan

Clin Genet· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Heidi L Cope, Laura V Milko, Elizabeth R Jalazo, Blythe G Crissman, Ann Katherine M Foreman, Kristin G Monaghan

Genet Med· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Kristin G Monaghan

Science· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Kristin G Monaghan

Am J Hum Genet· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Kristin G Monaghan

Am J Hum Genet· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Kristin G Monaghan

Am J Hum Genet· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, Tzung-Chien Hsieh, Cory Rosenfelt, Kristin G Monaghan

medRxiv· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Kristin G Monaghan

Genet Med· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Kristin Monaghan

Res Sq· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Joshua L Deignan, Anthony R Gregg, Wayne W Grody, Michael H Guo, Hutton Kearney, Kristin G Monaghan

Genet Med· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari, Kristin G Monaghan

Genet Med· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Gregory Costain, Chantal F Morel, Lauren Massingham, Kristin Monaghan

Genet Med· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari, Kristin G Monaghan

Genet Med· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Kristin G Monaghan

Genet Med· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Kristin G Monaghan

Genet Med· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis