Publications by authors named "Jennifer Silhavy"

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Phase II Study of Vismodegib in Patients With or -Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.
Anne S Tsao, Zihe Song, Alan L Ho, Janice M Mehnert, Percy Ivy, Jennifer Silhavy

JCO Precis Oncol· October 2025

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Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Alicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, Anne Gregor, Maha S Zaki, Jennifer L Silhavy

Ann Neurol· November 2018

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Ashleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, Nouriya Al-Sanaa, Hind Y Al-Abdulwahed, Jennifer L Silhavy

Nat Genet· August 2018

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A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Jennifer L Silhavy

J Med Genet· January 2018

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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson

Neurology· November 2017

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Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, Gifty Bhat, Jennifer L Silhavy

J Med Genet· June 2017

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Jennifer L Silhavy

Am J Hum Genet· April 2017

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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Jennifer L Silhavy

Nat Genet· March 2017

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Jennifer L Silhavy

Am J Hum Genet· November 2016

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Susanne Roosing, Rasim O Rosti, Basak Rosti, Erik de Vrieze, Jennifer L Silhavy

Hum Genet· August 2016

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Jennifer L Silhavy

Nat Genet· May 2015

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Jennifer L Silhavy

Elife· May 2015

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, Miriam S Reuter, Eric Scott, Jennifer L Silhavy

Cell· April 2014

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Mutations in CSPP1 lead to classical Joubert syndrome.
Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, Eric Scott, Ali G Fenstermaker

Am J Hum Genet· January 2014

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy

Science· January 2014

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson

Eur J Hum Genet· October 2013

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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Jennifer L Silhavy

Cell· August 2013

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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Farid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, Cahide Yilmaz, Vincent Cantagrel

Am J Hum Genet· March 2013

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A Meguid, Eric M Scott, Jennifer L Silhavy

Science· October 2012

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson, Lihadh Al-Gazali

BMC Med Genet· September 2012

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Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.
Jennifer Friedman, Jesus Olvera, Jennifer L Silhavy, Stacey B Gabriel, Joseph G Gleeson

Neurology· August 2012

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Exome sequencing can improve diagnosis and alter patient management.
Tracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas

Sci Transl Med· June 2012

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar

Nat Genet· June 2012

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali

Orphanet J Rare Dis· May 2012

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas

Science· February 2012

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