G. Yoon

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

C. Marshall, L. Hazrati, P. Ray, 2018, Human molecular genetics.

Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair.

K. Caldecott, G. Yoon, 2018, Handbook of clinical neurology.

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach.

S. Blaser, M. Steinlin, A. Al-Maawali, 2016, Neuroimaging clinics of North America.

Biometry of cerebellum and vermis Height : vermis Transverse : cerebellum Height of superior and middle cerebellar peduncles Tegmentovermian angle Superior cerebellar peduncle angle

S. Blaser, M. Steinlin, A. Al-Maawali, 2022 .

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies

N. Seidah, A. Chamberland, G. Paré, 2019, Journal of Medical Genetics.

G. Ravenscroft, C. Bönnemann, Z. Valivullah, 2022, Journal of Medical Genetics.

The genetic landscape of familial congenital hydrocephalus

F. Alkuraya, E. Faqeih, R. Hopkin, 2017, Annals of neurology.

Neurological complications of cardio‐facio‐cutaneous syndrome

K. Rauen, S. Blaser, G. Yoon, 2007, Developmental medicine and child neurology.

Comorbid Medical Conditions in Friedreich Ataxia

S. Subramony, S. Perlman, K. Mathews, 2016, Journal of child neurology.

G.P.48 Genotype–phenotype correlations in recessive RYR1 -related myopathies

M. Tarnopolsky, K. Mathews, J. Dowling, 2014, Neuromuscular Disorders.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

J. Yates, A. Vanderver, D. Timmann, 2015, Nature Communications.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2021, Movement disorders : official journal of the Movement Disorder Society.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype

M. Tarnopolsky, S. Fox, A. Mehta, 2011, Movement disorders : official journal of the Movement Disorder Society.

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

M. Shago, M. Shroff, G. Yoon, 2011, European journal of medical genetics.

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease

B. Banwell, E. Widjaja, S. Blaser, 2010, American journal of medical genetics. Part A.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.

E. van Binsbergen, B. Coulombe, M. Gauthier, 2021, American journal of human genetics.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

K., Stevens, A. Vanderver, 2020, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS).

R. Weksberg, M. DeBaun, M. Coppes, 2002, Medical and pediatric oncology.

A case report of prenatal exposure to rosuvastatin and telmisartan.

C. Hahn, Y. Trakadis, S. Blaser, 2009, Paediatrics & child health.

KCNA2 mutations are rare in hereditary spastic paraplegia

O. Suchowersky, G. Rouleau, Z. Gan-Or, 2017, Annals of Neurology.

Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features

R. Westmacott, M. Shroff, J. Hartley, 2010, Journal of child neurology.

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

S. Blaser, A. Al-Maawali, G. Yoon, 2012, Journal of Child Neurology.

Triple A syndrome presenting as complicated hereditary spastic paraplegia

L. Hazrati, G. Rouleau, A. Dionne‐Laporte, 2018, Molecular genetics & genomic medicine.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

C. Hawkins, J. Vajsar, D. Biggar, 2010, Neuromuscular Disorders.

Hereditary Spastic Paraplegia Associated With Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

A. Rolfs, A. Al-Maawali, G. Yoon, 2011, Journal of clinical neuromuscular disease.

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

S. Scherer, B. Chung, C. Marshall, 2011, American journal of medical genetics. Part A.

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

M. Moharir, W. Logan, E. Donner, 2015, Orphanet Journal of Rare Diseases.

BRAT1 links Integrator and defective RNA processing with neurodegeneration

K. Caldecott, H. Hanzlíková, M. Kolář, 2022, Nature Communications.

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia

A. Lang, M. Hanna, T. Mestre, 2016, neurogenetics.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

C. Hawkins, C. E. Pearson, Heather P Trang, 2015, JAMA neurology.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

C. Blackstone, A. Durr, R. Schüle, 2022, BMC Neurology.

Ataxia and pancytopenia caused by a mutation in TINF2

S. Adams, P. Lansdorp, D. Chitayat, 2008, Human Genetics.

“Both Sides of the Wheelchair”: The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors

L. Corben, M. Delatycki, R. Duncan, 2015, Journal of Genetic Counseling.

Natural History of Friedreich Ataxia

L. Seeberger, K. Bushara, L. Corben, 2022, Neurology.

L. Hazrati, E. Héon, A. Vincent, 2020, European journal of medical genetics.

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study

J. Dowling, A. Guerguerian, P. Diamandis, 2015, Neuromuscular Disorders.

Mosaic microdeletion 18q21 as a cause of mental retardation.

D. Stavropoulos, D. MacGregor, G. Yoon, 2010, European journal of medical genetics.

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

B. Banwell, R. Westmacott, K. Christodoulou, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Sarah C. Milne, A. Koeppen, A. Durr, 2022, Orphanet Journal of Rare Diseases.

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

T. Visser, C. Armour, G. Yoon, 2015, PloS one.

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

G. Utermann, M. Nezarati, G. Graham, 2002, American journal of medical genetics.

Response to phenotypic hetergeneity of POMT2 variants

L. Mertens, M. Carter, A. Guerin, 2018, American journal of medical genetics. Part A.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Neonatal stroke and haematuria: Answers

Steven P. Miller, Mathieu Lemaire, N. Dlamini, 2018, Pediatric Nephrology.

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy

J. Dowling, E. Widjaja, J. Vajsar, 2017, Muscle & nerve.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

R. Pfundt, A. Fasano, A. Lozano, 2021, EMBO molecular medicine.

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

S. Scherer, A. C. Lionel, C. Marshall, 2014, Journal of Neurodevelopmental Disorders.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

S. Scherer, D. Merico, C. Marshall, 2016, Scientific Reports.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

C. Marshall, M. Tarnopolsky, R. Hegele, 2013, Human mutation.

VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling

A. Fasano, A. Lozano, D. Chitayat, 2019, bioRxiv.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

D. Stavropoulos, M. Carter, A. Guerin, 2016, American journal of medical genetics. Part A.

Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy

M. Shago, B. Banwell, D. Stavropoulos, 2014, American journal of medical genetics. Part A.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.

E. Fish, E. Yeh, R. Laxer, 2017, Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

C. Marshall, P. Ray, S. Blaser, 2017, European Journal of Human Genetics.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Symptomatic dystrophinopathies in female children

C. Campbell, D. Biggar, H. Kolski, 2011, Neuromuscular Disorders.

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

M. Shago, D. Chitayat, P. Ruiz, 2012, American journal of medical genetics. Part A.

Complex genomic rearrangement in SPG11 due to a DNA replication‐based mechanism

B. Banwell, P. Ray, L. Kalia, 2017, Movement disorders : official journal of the Movement Disorder Society.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

S. Scherer, C. Marshall, R. Weksberg, 2018, European Journal of Human Genetics.

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

E. Sell, M. Tarnopolsky, W. Meschino, 2013, neurogenetics.

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

Steven P. Miller, C. Hawkins, E. Tam, 2020, Neurology.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Rationale for dopa‐responsive CTNNB1/ß‐catenin deficient dystonia

D. Chitayat, I. Tein, D. Fehlings, 2018, Movement disorders : official journal of the Movement Disorder Society.

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

G. Costain, T. Rouault, Y. Si, 2019, Brain : a journal of neurology.

Clinical and genetic study of hereditary spastic paraplegia in Canada

O. Suchowersky, G. Rouleau, K. Boycott, 2016, Neurology: Genetics.

A Population-Based Study of Dystrophin Mutations in Canada

A. McCormick, M. Tarnopolsky, P. Ray, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Stepwise developmental regression associated with novel CACNA1A mutation.

E. Donner, A. Feigenbaum, A. Guerin, 2008, Pediatric neurology.

Genetic, structural and clinical analysis of spastic paraplegia 4

M. Tarnopolsky, G. Rouleau, O. Suchowersky, 2021, medRxiv.

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

J. Dowling, J. Vajsar, V. Bril, 2021, Neuromuscular Disorders.

Frataxin levels in peripheral tissue in Friedreich ataxia

S. Subramony, C. Gomez, S. Perlman, 2015, Annals of clinical and translational neurology.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

O. Suchowersky, G. Rouleau, P. Drapeau, 2016, American journal of human genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Buschke–Ollendorff syndrome: a novel case series and systematic review

J. So, R. Mendoza-Londono, L. Dupuis, 2016, The British journal of dermatology.

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

P. Ray, W. Halliday, G. Yoon, 2016, Journal of developmental and behavioral pediatrics : JDBP.

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy

G. Yoon, S. Smile, L. McAdam, 2015, Journal of child neurology.

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

C. Hawkins, P. Ray, J. Vajsar, 2012, Muscle & nerve.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Neil A. Miller, E. Farrow, I. Thiffault, 2018, Brain : a journal of neurology.

Subcutaneous fat pads on body MRI – an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)

S. Blaser, A. Schulze, E. Miller, 2014, Pediatric Radiology.

XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

Keith W. Caldecott, Kevin Staras, Limei Ju, 2016, Nature.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

S. Scherer, C. Marshall, T. Paton, 2015, Brain : a journal of neurology.

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

S. Perlman, K. Mathews, T. Zesiewicz, 2021, Neurology: Genetics.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

A. Mégarbané, V. Delague, G. Isaya, 2016, Brain : a journal of neurology.

Genetic, structural and clinical analysis of spastic paraplegia 4.

M. Tarnopolsky, O. Suchowersky, G. Rouleau, 2022, Parkinsonism & related disorders.

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

A. L. La Spada, B. Fogel, S. Baker, 2021, Acta Neuropathologica Communications.

Cardiac Transplantation in Friedreich Ataxia

S. Mital, A. Dipchand, W. Logan, 2012, Journal of child neurology.

GCH1 mutations in hereditary spastic paraplegia

G. Rouleau, J. Trempe, Z. Gan-Or, 2021, medRxiv.

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

S. Subramony, S. Perlman, T. Zesiewicz, 2017, Annals of clinical and translational neurology.

Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

W. Halliday, B. Banwell, P. Kantor, 2010, Neuromuscular Disorders.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

A. Singleton, T. Rinne, J. Christodoulou, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2020, medRxiv.

K. Bushara, L. Corben, B. Ravina, 2019, Journal of the Neurological Sciences.

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

L. Seeberger, K. Bushara, L. Corben, 2021, Annals of clinical and translational neurology.

Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6

J. Vajsar, S. Laughlin, P. Krishnan, 2017, Journal of Pediatric Neurology.

Progression of Friedreich ataxia: quantitative characterization over 5 years

S. Subramony, S. Perlman, K. Mathews, 2016, Annals of clinical and translational neurology.

Intermediate-dose idebenone and quality of life in Friedreich ataxia.

D. Stephens, J. Hartley, G. Yoon, 2010, Pediatric neurology.

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

R. Jobling, S. Blaser, M. Inbar‐Feigenberg, 2018, Molecular genetics and metabolism reports.

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

M. Tétreault, N. Sondheimer, K. Caldecott, 2019, Neurology: Genetics.

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

W. Halliday, B. Banwell, D. Chitayat, 2016, Neuroradiology.

Prospective study of activities of daily living outcomes in children with cerebellar atrophy

S. Blaser, A. Al-Maawali, G. Yoon, 2014, Developmental medicine and child neurology.

Psychometric properties of the Friedreich Ataxia Rating Scale

Louise A. Corben, Martin B. Delatycki, Bernard Ravina, 2019, Neurology: Genetics.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

P. Bauer, R. Heller, P. Ray, 2016 .

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

P. Bauer, R. Heller, P. Ray, 2016, Human mutation.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

S. Subramony, S. Perlman, K. Mathews, 2018, Journal of child neurology.

Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A

C. Marshall, L. Hazrati, P. Ray, 2017, Neuromuscular Disorders.

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

A. V. D. van den Ouweland, P. Elfferich, R. van Minkelen, 2015, BMC Medical Genetics.

Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy - Clues to an Ultra-Rare ACO2-Related Neurometabolic Diagnosis.

D. Pain, A. Pandey, H. Branson, 2023, Neurology.

X-linked Joubert syndrome: Neuroimaging and clinical features associated with a novel mutation in oral-facial-digital syndrome type 1

M. Moharir, H. Branson, B. Hashemi, 2014, Journal of Pediatric Neurology.

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

A. Pagnamenta, D. Keays, S. Knight, 2012, American journal of medical genetics. Part A.

Edinburgh Research Explorer A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A. Pagnamenta, S. Knight, Jenny C. Taylor, 2012 .

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

P. Kivisäkk, M. Sahin, F. Santorelli, 2023, Movement disorders : official journal of the Movement Disorder Society.

De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus.

R. Pfundt, B. D. de Vries, C. Gomez, 2020, Human molecular genetics.

Neonatal Corneal Opacity: A Case Study of Peters’ Anomaly

G. Yoon, G. Yoon, 2001, Neonatal Network.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

O. Suchowersky, G. Rouleau, P. Drapeau, 2016, American journal of human genetics.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome

C. Hawkins, L. Mertens, M. Carter, 2017, American journal of medical genetics. Part A.

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

L. Nguyen, R. Poot, G. Mancini, 2023, Brain : a journal of neurology.

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

S. Scherer, C. Marshall, C. Hawkins, 2016, The Journal of pediatrics.