Focus 07 December 2020

Focus on Neurology

Genetics in Medicine has published numerous articles of interest to clinicians working in neurology. The editors have compiled the most pertinent articles to highlight a few that will be most useful for busy practitioners as well as researcher in the field of neurology.

Content

Ethical challenges for a new generation of early-phase pediatric gene therapy trials
- Alexander A. Iyer
- Dimah Saade
- Annette Rid
Review Article7 Jul 2021 Genetics in Medicine
Treatment of ARS deficiencies with specific amino acids
- Gautam Kok
- Laura Tseng
- Sabine A. Fuchs
Brief Communication30 Jun 2021 Genetics in Medicine
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
- C. Cubuk
- A. Garrett
- CanVIG-UK
ArticleOpen Access6 Jul 2021 Genetics in Medicine
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
- Sheng-Jia Lin
- Barbara Vona
- Gaurav K. Varshney
Article25 Jun 2021 Genetics in Medicine
Mucolipidosis type II and type III: a systematic review of 843 published cases
- Emma J. Dogterom
- Margreet A. E. M. Wagenmakers
- Esmée Oussoren
Systematic Review25 Jun 2021 Genetics in Medicine
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Lance H. Rodan
- Rebecca C. Spillmann
- Vandana Shashi
Article23 Jun 2021 Genetics in Medicine
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
- Camille Tremblay-Laganière
- Reza Maroofian
- Yoshiko Murakami
Article10 Jun 2021 Genetics in Medicine
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
- Thomas A. Ravenscroft
- Jennifer B. Phillips
- Hugo J. Bellen
Article10 Jun 2021 Genetics in Medicine
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
- Quentin Thomas
- Thierry Gautier
- Antonio Vitobello
Article10 Jun 2021 Genetics in Medicine
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
- Halie J. May
- Jaehoon Jeong
- Kwame Anyane-Yeboa
Article10 Jun 2021 Genetics in Medicine
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
- Saskia B. Wortmann
- Szymon Ziętkiewicz
- Ron A. Wevers
Article17 Jun 2021 Genetics in Medicine
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
- Gabriel C. Dworschak
- Jaya Punetha
- Heiko Reutter
ArticleOpen Access30 May 2021 Genetics in Medicine
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)
- Amy Zhou
- Casey M. Rand
- Debra E. Weese-Mayer
Article6 May 2021 Genetics in Medicine
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care
- Samuel A. Crawford
- Cynthia L. Gong
- Joel W. Hay
Article26 May 2021 Genetics in Medicine
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
- Théo Charnay
- Véronique Blanck
- Martin Krahn
Brief Communication29 Apr 2021 Genetics in Medicine
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
- Eric Legius
- Ludwine Messiaen
- Scott R. Plotkin
ArticleOpen Access19 May 2021 Genetics in Medicine
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency
- Seok-Ho Yu
- Tong Wang
- Richard Steet
Article17 Mar 2021 Genetics in Medicine
DLG4-related synaptopathy: a new rare brain disorder
- Agustí Rodríguez-Palmero
- Melissa Maria Boerrigter
- Zeynep Tümer
Article17 Feb 2021 Genetics in Medicine
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders
- H. Copeland
- E. Kivuva
- C. F. Wright
ArticleOpen Access18 Feb 2021 Genetics in Medicine
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
- Holly K. Harris
- Tojo Nakayama
- Timothy W. Yu
Article3 Mar 2021 Genetics in Medicine
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
- Katherine Crawford
- Julie Xian
- Ingo Helbig
ArticleOpen Access17 Mar 2021 Genetics in Medicine
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
- Paul Wolujewicz
- Vanessa Aguiar-Pulido
- M. Elizabeth Ross
ArticleOpen Access8 Mar 2021 Genetics in Medicine
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood
- Carole Samango-Sprouse
- Michaela Reiko Brooks
- Andrea L. Gropman
Article24 Feb 2021 Genetics in Medicine
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
- Minna Luo
- Zaisheng Lin
- Muqing Cao
Article2 Feb 2021 Genetics in Medicine
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
- Diane D. Shao
- Rachel Straussberg
- Christopher A. Walsh
Brief CommunicationOpen Access2 Feb 2021 Genetics in Medicine
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
- Min Ni
- Bushra Afroze
- Ralph J. DeBerardinis
ArticleOpen Access20 Jan 2021 Genetics in Medicine
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
- Alison M. Muir
- Jennifer F. Gardner
- Heather C. Mefford
Article20 Jan 2021 Genetics in Medicine
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
- Marie Hully
- Tommaso Lo Barco
- Rima Nabbout
Brief CommunicationOpen Access26 Jan 2021 Genetics in Medicine
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction
- Cindy Li
- Ankit K. Desai
- Priya S. Kishnani
Article25 Jan 2021 Genetics in Medicine
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
- Yuri A. Zarate
- Tomoko Uehara
- Kenjiro Kosaki
Article25 Jan 2021 Genetics in Medicine
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
- Noam Domniz
- Liat Ries Levavi
- Shay Ben-Shachar
Article20 Jan 2021 Genetics in Medicine
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
- Chiara Klöckner
- Heinrich Sticht
- Konrad Platzer
Article10 Dec 2020 Genetics in Medicine
Private payer coverage policies for ApoE-e4 genetic testing
- Jalayne J. Arias
- Ana M. Tyler
- Kathryn A. Phillips
Article8 Jan 2021 Genetics in Medicine
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
- Uirá Souto Melo
- Devon Bonner
- Heather M. Byers
Article8 Jan 2021 Genetics in Medicine
CNV profiles of Chinese pediatric patients with developmental disorders
- Haiming Yuan
- Shaofang Shangguan
- Xiaoli Chen
Article5 Jan 2021 Genetics in Medicine
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Denise Horn
- Elisa Fernández-Núñez
- Victor L. Ruiz-Perez
Article13 Jan 2021 Genetics in Medicine
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Sacha Ferdinandusse
- Kirsty McWalter
- Frédéric M. Vaz
ArticleOpen Access26 Nov 2020 Genetics in Medicine
Neurofilament light chain levels correlate with clinical measures in CLN3 disease
- An N. Dang Do
- Ninet Sinaii
- Forbes D. Porter
Article26 Nov 2020 Genetics in Medicine
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
- John S. Richardson
- Alex R. Kemper
- Lisa A. Prosser
Article7 Dec 2020 Genetics in Medicine
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
- Xinying Hong
- Jessica Daiker
- Michael H. Gelb
Article20 Nov 2020 Genetics in Medicine
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
- Shereen G. Ghosh
- Sangmoon Lee
- Joseph G. Gleeson
Article14 Nov 2020 Genetics in Medicine
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
- Anaïs Begemann
- Heinrich Sticht
- Anita Rauch
ArticleOpen Access5 Nov 2020 Genetics in Medicine
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
- Chunmei Li
- Stacey Vandersluis
- Vivian Ng
Article28 Oct 2020 Genetics in Medicine
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
- Lot Snijders Blok
- Arianna Vino
- Simon E. Fisher
ArticleOpen Access28 Oct 2020 Genetics in Medicine
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
- Hannah Stamberger
- Trine B. Hammer
- Ingrid E. Scheffer
Article4 Nov 2020 Genetics in Medicine
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- Eline A. Verberne
- Shuxiang Goh
- Philippe M. Campeau
Article20 Oct 2020 Genetics in Medicine
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
- Julian Schröter
- Jan H. Döring
- Steffen Syrbe
ArticleOpen Access21 Oct 2020 Genetics in Medicine
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism
- W. Reid Thompson
- Brittany Hornby
- Hilary J. Vernon
ArticleOpen Access20 Oct 2020 Genetics in Medicine
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
- Wen-Chin Weng
- Yu-Kan Hsu
- Yin-Hsiu Chien
Brief Communication9 Oct 2020 Genetics in Medicine
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
- Simone Schröder
- Yun Li
- Knut Brockmann
ArticleOpen Access7 Oct 2020 Genetics in Medicine
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
- David A. Parry
- Carol-Anne Martin
- Andrew P. Jackson
Brief CommunicationOpen Access9 Oct 2020 Genetics in Medicine
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
- Lisa Lenaerts
- Sara Reynhout
- Veerle Janssens
ArticleOpen Access27 Oct 2020 Genetics in Medicine
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
- Eva D’haene
- Sarah Vergult
Review ArticleOpen Access25 Sep 2020 Genetics in Medicine
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
- Nikolas Boy
- Katharina Mengler
- Stefan Kölker
Systematic ReviewOpen Access28 Sep 2020 Genetics in Medicine
A randomized controlled trial of an online health tool about Down syndrome
- Jeanhee Chung
- Karen Donelan
- Brian G. Skotko
Article3 Sep 2020 Genetics in Medicine
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
- Kim L. McBride
- Susan A. Berry
- ACMG Therapeutics Committee
ACMG Practice Resource3 Aug 2020 Genetics in Medicine
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range
- Hailey Findlay Black
- Galen E. B. Wright
- Michael R. Hayden
Brief CommunicationOpen Access3 Aug 2020 Genetics in Medicine
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
- Essa Alharby
- Eissa A. Faqeih
- Naif A. M. Almontashiri
Article3 Aug 2020 Genetics in Medicine
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation
- Shiva Ganesan
- Peter D. Galer
- Ingo Helbig
ArticleOpen Access10 Aug 2020 Genetics in Medicine
Assessing non-Mendelian inheritance in inherited axonopathies
- Dana M. Bis-Brewer
- Ziv Gan-Or
- Stephan Züchner
Brief Communication3 Aug 2020 Genetics in Medicine
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
- Juan A. Perez-Valencia
- Richard Gallon
- Katharina Wimmer
ArticleOpen Access10 Aug 2020 Genetics in Medicine
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
- Daisy Rymen
- Martijn Lindhout
- Saskia B. Wortmann
Article21 Aug 2020 Genetics in Medicine
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment
- Ilias Goranitis
- Stephanie Best
- John Christodoulou
Article25 Aug 2020 Genetics in Medicine
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
- Eliane Beauregard-Lacroix
- Guillermo Pacheco-Cuellar
- Philippe M. Campeau
Article2 Sep 2020 Genetics in Medicine
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- Gerarda Cappuccio
- Camille Sayou
- Nicola Brunetti-Pierri
Article22 Jul 2020 Genetics in Medicine
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- Thomas Roux
- Mathieu Barbier
- SPATAX network
Article27 Jul 2020 Genetics in Medicine
A molecular basis for neurofibroma-associated skeletal manifestations in NF1
- Yun Ma
- Andrea M. Gross
- Florent Elefteriou
Article30 Jun 2020 Genetics in Medicine
Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East
- Ferdinando Squitieri
- Tommaso Mazza
- Michael R. Hayden
Brief Communication14 Jul 2020 Genetics in Medicine
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
- Solveig Heide
- Myrtille Spentchian
- Delphine Héron
Brief Communication22 Jun 2020 Genetics in Medicine
Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study
- Peter de Blank
- Nan Li
- Kevin R. Krull
Article23 Jun 2020 Genetics in Medicine
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
- Francisco del Caño-Ochoa
- Bobby G. Ng
- Santiago Ramón-Maiques
ArticleOpen Access28 May 2020 Genetics in Medicine
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
- Ana Töpf
- Katherine Johnson
- Volker Straub
ArticleOpen Access11 Jun 2020 Genetics in Medicine
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- Kaja K. Selmer
- Christopher T. Gordon
Article7 May 2020 Genetics in Medicine
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Li Xin Zhang
- Gabrielle Lemire
- Philippe M. Campeau
Article19 May 2020 Genetics in Medicine
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
- Sakshi Singh
- Aditi Gupta
- Bobby P. C. Koeleman
Brief CommunicationOpen Access5 May 2020 Genetics in Medicine
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis
- Yongjia Yang
- Yu Zheng
- Yimin Zhu
Article29 May 2019 Genetics in Medicine
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
- Barbara Ogórek
- Lana Hamieh
- David J. Kwiatkowski
Article28 May 2020 Genetics in Medicine
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
- Denise M. Kay
- Colleen F. Stevens
- Michele Caggana
Article18 May 2020 Genetics in Medicine
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
- Lisa G. Riley
- Mark J. Cowley
- John Christodoulou
Article21 Apr 2020 Genetics in Medicine
The morbid genome of ciliopathies: an update
- Hanan E. Shamseldin
- Ranad Shaheen
- Fowzan S. Alkuraya
Article14 Feb 2020 Genetics in Medicine
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
- Adam J. Guenzel
- Coleman T. Turgeon
- Dietrich Matern
Article24 Feb 2020 Genetics in Medicine
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
- Peter Witters
- Shawn Tahata
- Eva Morava
Article27 Feb 2020 Genetics in Medicine
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
- Matias Wagner
- Jonathan Lévy
- Thomas Opladen
Article26 Feb 2020 Genetics in Medicine
Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span
- Line Kenborg
- Anne Katrine Duun-Henriksen
- Jeanette F. Winther
Article28 Feb 2020 Genetics in Medicine
Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders
- Lauren A. Borch
- Jillian Parboosingh
- Pamela Veale
Article10 Mar 2020 Genetics in Medicine
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1
- Myrthe J. Ottenhoff
- André B. Rietman
- Ype Elgersma
ArticleOpen Access4 Feb 2020 Genetics in Medicine
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
- Xiao Chen
- Alba Sanchis-Juan
- Michael A. Eberle
ArticleOpen Access18 Feb 2020 Genetics in Medicine
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
- Michael E. Coulter
- Damir Musaev
- Christopher A. Walsh
ArticleOpen Access27 Feb 2020 Genetics in Medicine
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
- Stefan Rentas
- Komal S. Rathi
- Ahmad Abou Tayoun
Article8 Jan 2020 Genetics in Medicine
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
- Sara Cuvertino
- Verity Hartill
- Siddharth Banka
ArticleOpen Access17 Jan 2020 Genetics in Medicine
Interpretation of mitochondrial tRNA variants
- Lee-Jun C. Wong
- Ting Chen
- William J. Craigen
Article22 Jan 2020 Genetics in Medicine
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- Natasha Jones
- Tyler Mark Pierson
Article17 Jan 2020 Genetics in Medicine
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
- Willemijn J. van Rijt
- Emmalie A. Jager
- Terry G. J. Derks
ArticleOpen Access6 Jan 2020 Genetics in Medicine
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature
- Aleena A. Khan
- Laura E. Case
- Priya S. Kishnani
Article6 Jan 2020 Genetics in Medicine
Clustering of comorbid conditions among women who carry an FMR1 premutation
- Emily Graves Allen
- Krista Charen
- Stephanie L. Sherman
ArticleOpen Access3 Jan 2020 Genetics in Medicine
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- Maria J. Nabais Sá
- Hanka Venselaar
- David A. Koolen
Brief Communication28 Nov 2019 Genetics in Medicine
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
- Stephanie L. Santoro
- Sheila Cannon
- Brian G. Skotko
Article26 Nov 2019 Genetics in Medicine
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria
- Hetanshi Naik
- Jessica R. Overbey
- Robert J. Desnick
Article6 Nov 2019 Genetics in Medicine
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- Jessica X. Chong
- Michael J. Bamshad
Article14 Nov 2019 Genetics in Medicine
Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists
- Roy N. Alcalay
- Caitlin Kehoe
- Martha Nance
ArticleOpen Access4 Nov 2019 Genetics in Medicine
The genomic and clinical landscape of fetal akinesia
- Matthias Pergande
- Susanne Motameny
- Sebahattin Cirak
Article4 Nov 2019 Genetics in Medicine
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
- Jan Verheijen
- Shawn Tahata
- Eva Morava
Review Article19 Sep 2019 Genetics in Medicine
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
- Marta Unolt
- Molka Kammoun
- Donna McDonald-McGinn
Article2 Sep 2019 Genetics in Medicine
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve
- Courtney Berrios
- Catherine Koertje
- John Lantos
Article30 Aug 2019 Genetics in Medicine
Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants
- Kristin Kostick
- Stacey Pereira
- Gabriel Lázaro-Muñoz
ArticleOpen Access3 Sep 2019 Genetics in Medicine
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
- Lina Sobhi Abdrabo
- David Watkins
- David S. Rosenblatt
Brief Communication29 Aug 2019 Genetics in Medicine
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
- Amélie Pinard
- Stéphanie Guey
- Dianna M. Milewicz
Brief Communication2 Sep 2019 Genetics in Medicine
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Ash Zawerton
- Cyril Mignot
- Christel Depienne
Article3 Oct 2019 Genetics in Medicine
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
- D. Gareth R. Evans
- Roope A. Kallionpää
- Juha Peltonen
ArticleOpen Access9 Sep 2019 Genetics in Medicine
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
- Nandaki Keshavan
- Jose Abdenur
- Shamima Rahman
Article29 Aug 2019 Genetics in Medicine
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
- Karin Weiss
- Hayley P. Lazar
- Katherine Lachlan
Article7 Aug 2019 Genetics in Medicine
Detection of iron deficiency in children with Down syndrome
- Sarah J. Hart
- Kanecia Zimmerman
- Priya S. Kishnani
Article16 Aug 2019 Genetics in Medicine
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- Alexandria T. M. Blackburn
- Nasim Bekheirnia
- Mir Reza Bekheirnia
Article2 Jul 2019 Genetics in Medicine
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
- Sarah Delbaere
- Tibbe Dhooge
- Fransiska Malfait
Article5 Jul 2019 Genetics in Medicine
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
- D. Gareth Evans
- Claire L. Hartley
- Miriam J. Smith
Article5 Jul 2019 Genetics in Medicine
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
- Clotilde Mircher
- Silvia Sacco
- Franck G. Sturtz
Article8 Jul 2019 Genetics in Medicine
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
- Krinio Giannikou
- Kathryn D. Lasseter
- David J. Kwiatkowski
Brief Communication4 Jun 2019 Genetics in Medicine
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism
- Yaoqiang Du
- Zhongshan Li
- Jinyu Wu
Article23 Jul 2019 Genetics in Medicine
A clinical scoring system for congenital contractural arachnodactyly
- Ilse Meerschaut
- Shana De Coninck
- Bert Callewaert
Article18 Jul 2019 Genetics in Medicine
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon
- Rocio Rius
- Mark J. Cowley
- John Christodoulou
Brief Communication7 Jun 2019 Genetics in Medicine
Long-term speech and language developmental issues among children with Duarte galactosemia
- Kimberly K Powell
- Kim Van Naarden Braun
- Marshalyn Yeargin-Allsopp
Article6 Nov 2009 Genetics in Medicine
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
- Nathalie Brison
- Jazz Storms
- Kris Van Den Bogaert
Article14 Jun 2019 Genetics in Medicine
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
- Mathilde Nizon
- Vincent Laugel
- Bertrand Isidor
Article3 Jun 2019 Genetics in Medicine
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
- Siddharth Srivastava
- Jamie A. Love-Nichols
- the NDD Exome Scoping Review Work Group
Systematic ReviewOpen Access11 Jun 2019 Genetics in Medicine
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
- Enrico D. H. Konrad
- Niels Nardini
- Christiane Zweier
ArticleOpen Access26 Jun 2019 Genetics in Medicine
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
- François Lecoquierre
- Yannis Duffourd
- Christel Thauvin-Robinet
Article30 Apr 2019 Genetics in Medicine
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
- Alison M. Treichel
- Lana Hamieh
- Thomas N. Darling
Article22 May 2019 Genetics in Medicine
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes
- Julie B. Eisengart
- Elizabeth I. Pierpont
- Troy C. Lund
ArticleOpen Access25 Apr 2019 Genetics in Medicine
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
- Kamal Khan
- Michael Zech
- Juliane Winkelmann
Article30 Apr 2019 Genetics in Medicine
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
- Priya S. Kishnani
- James B. Gibson
- on behalf of the Pompe ADVANCE Study Consortium
ArticleOpen Access14 May 2019 Genetics in Medicine
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
- Henrike O. Heyne
- Mykyta Artomov
- Johannes R. Lemke
Article6 May 2019 Genetics in Medicine
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
- René G. Feichtinger
- Bettina E. Mucha
- Nicolas A. Dumont
Article16 May 2019 Genetics in Medicine
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
- Brenden Chen
- Sharon Whatley
- Robert J. Desnick
Special Article10 May 2019 Genetics in Medicine
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases
- Wei Liu
- Sander Pajusalu
- Monkol Lek
Article20 May 2019 Genetics in Medicine
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
- Allan Bayat
- Alexej Knaus
- the DDD Study Group
Article12 Apr 2019 Genetics in Medicine
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
- Maria J. Nabais Sá
- Philip J. Jensik
- Anneke T. Vulto-vanSilfhout
Article29 Mar 2019 Genetics in Medicine
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
- Elisa Rahikkala
- Matti Myllykoski
- Johanna Uusimaa
ArticleOpen Access3 Apr 2019 Genetics in Medicine
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
- Shoko Komatsuzaki
- Matthias Zielonka
- Markus Ries
Article22 Mar 2019 Genetics in Medicine
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
- Eva Vasiljevic
- Zhan Ye
- Mei W. Baker
Article8 Mar 2019 Genetics in Medicine
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
- Paranchai Boonsawat
- Pascal Joset
- Anita Rauch
ArticleOpen Access7 Mar 2019 Genetics in Medicine
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
- Erin Torti
- Boris Keren
- Jane Juusola
Article11 Feb 2019 Genetics in Medicine
SERPINA1 Z allele is associated with cystic fibrosis liver disease
- Pierre-Yves Boëlle
- Dominique Debray
- on behalf of the French CF Modifier Gene Study Investigators
Brief Communication11 Feb 2019 Genetics in Medicine
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
- Thomas Besnard
- Natacha Sloboda
- Bertrand Isidor
Article6 Feb 2019 Genetics in Medicine
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
- Dominique P. Germain
- Kathy Nicholls
- Christopher Viereck
ArticleOpen Access6 Feb 2019 Genetics in Medicine
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Michael D. Fountain
- David S. Oleson
- Christian P. Schaaf
ArticleOpen Access25 Jan 2019 Genetics in Medicine
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
- Kohei Hamanaka
- Satoko Miyatake
- Naomichi Matsumoto
Article23 Nov 2018 Genetics in Medicine
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
- Hui Guo
- Michael H. Duyzend
- Evan E. Eichler
Article3 Dec 2018 Genetics in Medicine
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
- Juliette Piard
- Lara Hawkes
- Christophe Philippe
ArticleOpen Access25 Oct 2018 Genetics in Medicine
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
- F. Tran Mau-Them
- L. Guibaud
- A. Vitobello
Brief Communication31 Aug 2018 Genetics in Medicine
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- Magdalena Koczkowska
- Tom Callens
- Ludwine M. Messiaen
ArticleOpen Access7 Sep 2018 Genetics in Medicine
Frequency and signature of somatic variants in 1461 human brain exomes
- Wei Wei
- Michael J. Keogh
- Patrick F. Chinnery
ArticleOpen Access14 Sep 2018 Genetics in Medicine
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
- Gregory Costain
- Bert Callewaert
- M. Stephen Meyn
Brief Communication8 Oct 2018 Genetics in Medicine
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
- Bettina E. Mucha
- Siddharth Banka
- Philippe M. Campeau
Article24 Sep 2018 Genetics in Medicine
The global prevalence of Wilson disease from next-generation sequencing data
- Jiali Gao
- Simon Brackley
- Jake P. Mann
Article26 Sep 2018 Genetics in Medicine
The landscape of epilepsy-related GATOR1 variants
- Sara Baldassari
- Fabienne Picard
- Stéphanie Baulac
ArticleOpen Access10 Aug 2018 Genetics in Medicine
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
- Illja J. Diets
- Trine Prescott
- Tjitske Kleefstra
Article15 Jun 2018 Genetics in Medicine
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant
- Julie W. Rutten
- Bastian J. Van Eijsden
- Saskia A. J. Lesnik Oberstein
ArticleOpen Access22 Jul 2018 Genetics in Medicine
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
- Stéphanie Valence
- Emmanuelle Cochet
- Lydie Burglen
Article12 Jul 2018 Genetics in Medicine
microRNAs as biomarkers in Pompe disease
- Antonietta Tarallo
- Annamaria Carissimo
- Giancarlo Parenti
Article12 Jul 2018 Genetics in Medicine
TRPV1 variants impair intracellular Ca²⁺ signaling and may confer susceptibility to malignant hyperthermia
- Fabien Vanden Abeele
- Sabine Lotteau
- Natalia Prevarskaya
ArticleOpen Access21 Jun 2018 Genetics in Medicine
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
- Miao Sun
- Amy Knight Johnson
- Soma Das
Article18 Jun 2018 Genetics in Medicine
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies
- Na He
- Zhi-Jian Lin
- Wei-Ping Liao
Review ArticleOpen Access12 Jun 2018 Genetics in Medicine
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?
- Victoria R. Sanders
- Stephen H. Sheldon
- Joel Charrow
Article5 Jun 2018 Genetics in Medicine
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality
- Tara L. Wenger
- Richard A. Hopper
- Amy Lee
Article18 Jun 2018 Genetics in Medicine
MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases
- R. Rodney Howell
- Stephan Zuchner
Comment22 Jun 2018 Genetics in Medicine
Clinical and genetic spectrum of a large cohort of children with epilepsy in China
- Lin Yang
- Yanting Kong
- Wenhao Zhou
Article21 Jun 2018 Genetics in Medicine
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
- Nataliya Di Donato
- Andrew E Timms
- William B Dobyns
Article19 Apr 2018 Genetics in Medicine
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
- Veronika Boczonadi
- Martin S King
- Rita Horvath
ArticleOpen Access8 Mar 2018 Genetics in Medicine
Prevalence of neurofibromatosis type 1 in the Finnish population
- Roope A Kallionpää
- Elina Uusitalo
- Juha Peltonen
Brief Communication7 Dec 2017 Genetics in Medicine
“Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease
- Doris T Zallen
Article8 Mar 2018 Genetics in Medicine
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
- Thierry Vilboux
- Daniel A. Doherty
- Meral Gunay-Aygun
Original Research Article26 Jan 2017 Genetics in Medicine
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing
- Yanming Feng
- Xiaoyan Ge
- Jinglan Zhang
Original Research Article26 Jan 2017 Genetics in Medicine
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
- Lisenka E.L.M. Vissers
- Kirsten J.M. van Nimwegen
- Michèl A.A.P. Willemsen
Original Research ArticleOpen Access23 Mar 2017 Genetics in Medicine
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
- Jennifer Roggenbuck
- Adam Quick
- Stephen J. Kolb
Review18 Aug 2016 Genetics in Medicine
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1
- C. Sue Richards
- Glenn E. Palomaki
- ; on behalf of the Biochemical and Molecular Genetics and Genomics Resource Committee, College of American Pathologists/American College of Medical Genetics and Genomics
Original Research Article2 Jun 2016 Genetics in Medicine
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
- Julia N. Bailey
- Christopher Patterson
- Antonio V. Delgado-Escueta
Systematic Review28 Jul 2016 Genetics in Medicine
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- Katherine L. Helbig
- Kelly D. Farwell Hagman
- Ingo Helbig
Original Research Article21 Jan 2016 Genetics in Medicine
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
- Andrew Lee
- Nasim Mavaddat
- Antonis C. Antoniou
ArticleOpen Access15 Jan 2019 Genetics in Medicine
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
- Zafar Iqbal
- Hasan Tawamie
- Rami Abou Jamra
Article4 Jan 2019 Genetics in Medicine
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
- Raul E. Piña-Aguilar
- Sheila A. Simpson
- on behalf of the UK HD Predictive Testing Consortium
Article14 Dec 2018 Genetics in Medicine
Atypical cerebral palsy: genomics analysis enables precision medicine
- Allison M. Matthews
- Ingrid Blydt-Hansen
- On behalf of TIDE BC, United for Metabolic Diseases and the CAUSES Study
Article13 Dec 2018 Genetics in Medicine
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing
- D. Gareth Evans
- Andrew T. King
- The English Specialist NF2 Research Group
Article7 Dec 2018 Genetics in Medicine