| 1 | Patterns of X-linked inheritance: A new approach for the genome era | 4.2 | 2 | Citations (PDF) |
| 2 | Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype | 1.5 | 2 | Citations (PDF) |
| 3 | Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review | 1.8 | 1 | Citations (PDF) |
| 4 | Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia | 1.5 | 3 | Citations (PDF) |
| 5 | Prenatal assessment of brain malformations on neuroimaging: an expert panel reviewBrain, 2024, 147, 3982-4002 | 8.4 | 15 | Citations (PDF) |
| 6 | BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | 3.0 | 15 | Citations (PDF) |
| 7 | ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyBrain, 2023, 146, 1357-1372 | 8.4 | 32 | Citations (PDF) |
| 8 | Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic careBrain, 2022, 145, 925-938 | 8.4 | 52 | Citations (PDF) |
| 9 | ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development | 2.6 | 8 | Citations (PDF) |
| 10 | De novo
coding variants in the
AGO1
gene cause a neurodevelopmental disorder with intellectual disability | 3.8 | 30 | Citations (PDF) |
| 11 | Monoallelic and biallelic mutations inRELNunderlie a graded series of neurodevelopmental disordersBrain, 2022, 145, 3274-3287 | 8.4 | 21 | Citations (PDF) |
| 12 | The spectrum of brain malformations and disruptions in twins | 1.5 | 32 | Citations (PDF) |
| 13 | Defining the phenotypical spectrum associated with variants in
TUBB2A | 3.8 | 31 | Citations (PDF) |
| 14 | Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations | 4.2 | 49 | Citations (PDF) |
| 15 | Biallelic
DAB1
Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia | 2.8 | 11 | Citations (PDF) |
| 16 | Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia | 4.2 | 34 | Citations (PDF) |
| 17 | Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior | 4.2 | 88 | Citations (PDF) |
| 18 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaBrain, 2021, 144, 1435-1450 | 8.4 | 67 | Citations (PDF) |
| 19 | Spatial and cell type transcriptional landscape of human cerebellar development | 17.1 | 213 | Citations (PDF) |
| 20 | Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes | 1.5 | 27 | Citations (PDF) |
| 21 | Expanding the KIF4A‐associated phenotype | 1.5 | 15 | Citations (PDF) |
| 22 | A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology | 2.3 | 7 | Citations (PDF) |
| 23 | The Names of Things: The 2018 Bernard Sachs Lecture | 1.7 | 0 | Citations (PDF) |
| 24 | Response to Hamosh et al. | 6.5 | 1 | Citations (PDF) |
| 25 | Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist | 1.8 | 3 | Citations (PDF) |
| 26 | Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations | 1.2 | 9 | Citations (PDF) |
| 27 | NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain | 13.3 | 54 | Citations (PDF) |
| 28 | Lissencephaly: Update on diagnostics and clinical management | 1.8 | 59 | Citations (PDF) |
| 29 | Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations | 1.6 | 28 | Citations (PDF) |
| 30 | Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain | 1.1 | 28 | Citations (PDF) |
| 31 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis | 8.4 | 51 | Citations (PDF) |
| 32 | Genotype–phenotype correlation at codon 1740 of SETD2 | 1.5 | 24 | Citations (PDF) |
| 33 | Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? | 1.5 | 1 | Citations (PDF) |
| 34 | Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) | 1.8 | 21 | Citations (PDF) |
| 35 | Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis | 1.5 | 50 | Citations (PDF) |
| 36 | International consensus recommendations on the diagnostic work-up for malformations of cortical development | 28.6 | 131 | Citations (PDF) |
| 37 | Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features | 1.8 | 21 | Citations (PDF) |
| 38 | Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy | 1.5 | 34 | Citations (PDF) |
| 39 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development | 11.0 | 208 | Citations (PDF) |
| 40 | De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature | 3.0 | 41 | Citations (PDF) |
| 41 | Reply to Hsueh YP et al. | 3.0 | 0 | Citations (PDF) |
| 42 | Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations | 5.4 | 56 | Citations (PDF) |
| 43 | SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature | 3.4 | 34 | Citations (PDF) |
| 44 | Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum | 36.3 | 177 | Citations (PDF) |
| 45 | Duplication 2p16 is associated with perisylvian polymicrogyria | 1.5 | 3 | Citations (PDF) |
| 46 | Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR | 3.4 | 93 | Citations (PDF) |
| 47 | Redefining the Etiologic Landscape of Cerebellar Malformations | 6.5 | 93 | Citations (PDF) |
| 48 | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis | 6.5 | 67 | Citations (PDF) |
| 49 | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome | 25.2 | 41 | Citations (PDF) |
| 50 | Costello syndrome: Clinical phenotype, genotype, and management guidelines | 1.5 | 125 | Citations (PDF) |
| 51 | Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamicsBrain, 2019, 142, 867-884 | 8.4 | 30 | Citations (PDF) |
| 52 | SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals | 4.5 | 47 | Citations (PDF) |
| 53 | Subcortical heterotopic gray matter brain malformations | 1.0 | 53 | Citations (PDF) |
| 54 | Approach to overgrowth syndromes in the genome era | 3.4 | 19 | Citations (PDF) |
| 55 | Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly | 4.2 | 128 | Citations (PDF) |
| 56 | Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome | 1.5 | 20 | Citations (PDF) |
| 57 | Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription | 2.9 | 25 | Citations (PDF) |
| 58 | Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain | 33.0 | 149 | Citations (PDF) |
| 59 | De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaBrain, 2018, 141, 698-712 | 8.4 | 94 | Citations (PDF) |
| 60 | Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation | 1.8 | 16 | Citations (PDF) |
| 61 | Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 | 3.0 | 45 | Citations (PDF) |
| 62 | Rhombencephalosynapsis: Fused cerebellum, confused geneticists 2018, 178, 432-439 | | 37 | Citations (PDF) |
| 63 | An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome 2018, 178, 414-422 | | 17 | Citations (PDF) |
| 64 | Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsNeuron, 2018, 100, 1354-1368.e5 | 11.0 | 53 | Citations (PDF) |
| 65 | NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly | 6.5 | 69 | Citations (PDF) |
| 66 | Primary brain calcification: an international study reporting novel variants and associated phenotypes | 3.0 | 70 | Citations (PDF) |
| 67 | The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia | 1.6 | 25 | Citations (PDF) |
| 68 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration | 25.2 | 86 | Citations (PDF) |
| 69 | PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia | 4.6 | 74 | Citations (PDF) |
| 70 | De novo and inherited private variants in MAP1B in periventricular nodular heterotopia | 3.2 | 63 | Citations (PDF) |
| 71 | Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms | 2.3 | 34 | Citations (PDF) |
| 72 | Comparison of brain MRI findings with language and motor function in the dystroglycanopathies | 1.0 | 19 | Citations (PDF) |
| 73 | Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing | 25.2 | 97 | Citations (PDF) |
| 74 | Lissencephaly: Expanded imaging and clinical classification | 1.5 | 164 | Citations (PDF) |
| 75 | Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish | 6.5 | 89 | Citations (PDF) |
| 76 | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | 3.8 | 256 | Citations (PDF) |
| 77 | Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects | 6.5 | 60 | Citations (PDF) |
| 78 | Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyBrain, 2017, 140, 2610-2622 | 8.4 | 122 | Citations (PDF) |
| 79 | Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophyBrain, 2017, 140, 2322-2336 | 8.4 | 105 | Citations (PDF) |
| 80 | Early-Life Epilepsies and the Emerging Role of Genetic Testing | 8.5 | 152 | Citations (PDF) |
| 81 | Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians | 8.5 | 860 | Citations (PDF) |
| 82 | Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients | 4.2 | 55 | Citations (PDF) |
| 83 | Human mutations in integrator complex subunits link transcriptome integrity to brain development | 3.2 | 91 | Citations (PDF) |
| 84 | PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution | 5.4 | 167 | Citations (PDF) |
| 85 | Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome | 1.5 | 38 | Citations (PDF) |
| 86 | A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair | 1.5 | 141 | Citations (PDF) |
| 87 | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update | 4.5 | 59 | Citations (PDF) |
| 88 | Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations | 3.8 | 49 | Citations (PDF) |
| 89 | Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro | 4.5 | 88 | Citations (PDF) |
| 90 | Association of
MTOR
Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism | 17.6 | 284 | Citations (PDF) |
| 91 | Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum | 6.3 | 82 | Citations (PDF) |
| 92 | Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors | 2.9 | 12 | Citations (PDF) |
| 93 | Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies | 2.0 | 20 | Citations (PDF) |
| 94 | Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria | 0.7 | 58 | Citations (PDF) |
| 95 | Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate | 33.0 | 264 | Citations (PDF) |
| 96 | Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant | 6.5 | 61 | Citations (PDF) |
| 97 | Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt | 3.8 | 93 | Citations (PDF) |
| 98 | Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences | 1.5 | 38 | Citations (PDF) |
| 99 | Description of 13 Infants Born During October 2015–January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth — Brazil | 11.4 | 402 | Citations (PDF) |
| 100 | Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion | 0.3 | 0 | Citations (PDF) |
| 101 | Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity | 4.0 | 97 | Citations (PDF) |
| 102 | PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaBrain, 2015, 138, 1613-1628 | 8.4 | 351 | Citations (PDF) |
| 103 | Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly | 4.4 | 125 | Citations (PDF) |
| 104 | Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes | 2.9 | 88 | Citations (PDF) |
| 105 | Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA | 2.0 | 544 | Citations (PDF) |
| 106 | Malformations of Cortical Development and Epilepsy | 6.6 | 152 | Citations (PDF) |
| 107 | Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy | 2.6 | 113 | Citations (PDF) |
| 108 | Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study | 17.9 | 81 | Citations (PDF) |
| 109 | ISDN2014_0157: Modeling human PIK3CA‐related congenital brain overgrowth and epilepsy in mice | 1.5 | 1 | Citations (PDF) |
| 110 | Consensus Paper: Cerebellar Development | 2.0 | 471 | Citations (PDF) |
| 111 | Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors | 11.0 | 109 | Citations (PDF) |
| 112 | Epilepsy and outcome in FOXG1‐related disorders | 4.4 | 69 | Citations (PDF) |
| 113 | Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism | 1.5 | 34 | Citations (PDF) |
| 114 | The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications | 1.5 | 21 | Citations (PDF) |
| 115 | A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases | 33.6 | 387 | Citations (PDF) |
| 116 | De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | 25.2 | 144 | Citations (PDF) |
| 117 | Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism | 2.9 | 93 | Citations (PDF) |
| 118 | Infantile hydrocephalus: A review of epidemiology, classification and causes | 1.6 | 362 | Citations (PDF) |
| 119 | Malformations of cortical development: clinical features and genetic causes | 17.9 | 487 | Citations (PDF) |
| 120 | STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly | 2.9 | 32 | Citations (PDF) |
| 121 | Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases | 3.0 | 164 | Citations (PDF) |
| 122 | Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption | 1.5 | 109 | Citations (PDF) |
| 123 | CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy | 1.7 | 58 | Citations (PDF) |
| 124 | The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes | 1.5 | 95 | Citations (PDF) |
| 125 | Neuropathology of brain and spinal malformations in a case of monosomy 1p36 | 5.0 | 22 | Citations (PDF) |
| 126 | MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways | 1.0 | 109 | Citations (PDF) |
| 127 | Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion | 1.5 | 72 | Citations (PDF) |
| 128 | Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria | 1.5 | 33 | Citations (PDF) |
| 129 | Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability | 4.5 | 48 | Citations (PDF) |
| 130 | Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan | 6.5 | 193 | Citations (PDF) |
| 131 | Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly‐capillary malformation syndrome | 2.3 | 11 | Citations (PDF) |
| 132 | Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneBrain, 2013, 136, 3378-3394 | 8.4 | 96 | Citations (PDF) |
| 133 | Overlapping cortical malformations and mutations in TUBB2B and TUBA1ABrain, 2013, 136, 536-548 | 8.4 | 151 | Citations (PDF) |
| 134 | Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome | 2.3 | 28 | Citations (PDF) |
| 135 | Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria | 3.2 | 107 | Citations (PDF) |
| 136 | Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP | 3.4 | 158 | Citations (PDF) |
| 137 | Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis | 1.5 | 65 | Citations (PDF) |
| 138 | Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome | 25.2 | 111 | Citations (PDF) |
| 139 | AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) | 3.0 | 62 | Citations (PDF) |
| 140 | Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation | 3.0 | 28 | Citations (PDF) |
| 141 | PRKDC mutations in a SCID patient with profound neurological abnormalities | 10.6 | 141 | Citations (PDF) |
| 142 | Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families | 0.4 | 10 | Citations (PDF) |
| 143 | Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severityBrain, 2012, 135, 1370-1386 | 8.4 | 149 | Citations (PDF) |
| 144 | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome | 25.2 | 229 | Citations (PDF) |
| 145 | Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationBrain, 2012, 135, 2416-2427 | 8.4 | 44 | Citations (PDF) |
| 146 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development | 25.2 | 101 | Citations (PDF) |
| 147 | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome | 25.2 | 282 | Citations (PDF) |
| 148 | Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis | 1.0 | 37 | Citations (PDF) |
| 149 | Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis | 1.5 | 45 | Citations (PDF) |
| 150 | A developmental and genetic classification for malformations of cortical development: update 2012Brain, 2012, 135, 1348-1369 | 8.4 | 1,006 | Citations (PDF) |
| 151 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | 25.2 | 701 | Citations (PDF) |
| 152 | Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis | 1.5 | 220 | Citations (PDF) |
| 153 | Hereditary Hyperekplexia caused by Novel Mutations of GLRA1 in Turkish Families | 0.4 | 5 | Citations (PDF) |
| 154 | Genetic and Biologic Classification of Infantile Spasms | 1.7 | 158 | Citations (PDF) |
| 155 | Phenotypic spectrum associated with CASK loss-of-function mutations | 3.8 | 129 | Citations (PDF) |
| 156 | Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization | 1.8 | 69 | Citations (PDF) |
| 157 | The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | 3.8 | 245 | Citations (PDF) |
| 158 | Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C 2011, 155, 706-716 | | 66 | Citations (PDF) |
| 159 | Genetic and functional analyses identify
DISC1
as a novel callosal agenesis candidate gene | 1.5 | 41 | Citations (PDF) |
| 160 | Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families | 1.0 | 52 | Citations (PDF) |
| 161 | Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function | 3.0 | 83 | Citations (PDF) |
| 162 | Bioinformatics and Data-Intensive Scientific Discovery in the Beginning of the 21st Century | 1.6 | 15 | Citations (PDF) |
| 163 | Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaBrain, 2011, 134, 143-156 | 8.4 | 222 | Citations (PDF) |
| 164 | COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans | 3.2 | 140 | Citations (PDF) |
| 165 | Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? | 1.5 | 3 | Citations (PDF) |
| 166 | High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities | 1.5 | 96 | Citations (PDF) |
| 167 | Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus | 1.5 | 9 | Citations (PDF) |
| 168 | X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis | 1.5 | 0 | Citations (PDF) |
| 169 | Identification of genomic loci contributing to agenesis of the corpus callosum | 1.5 | 70 | Citations (PDF) |
| 170 | Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible? | 1.5 | 29 | Citations (PDF) |
| 171 | Familial hydrocephalus with normal cognition and distinctive radiological features | 1.5 | 8 | Citations (PDF) |
| 172 | The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia | 4.4 | 78 | Citations (PDF) |
| 173 | Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency | 3.0 | 82 | Citations (PDF) |
| 174 | WDR62 is associated with the spindle pole and is mutated in human microcephaly | 25.2 | 277 | Citations (PDF) |
| 175 | Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture | 25.2 | 282 | Citations (PDF) |
| 176 | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) | 3.8 | 140 | Citations (PDF) |
| 177 | TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins | 2.9 | 193 | Citations (PDF) |
| 178 | Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsBrain, 2010, 133, 1415-1427 | 8.4 | 254 | Citations (PDF) |
| 179 | SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder | 33.6 | 286 | Citations (PDF) |
| 180 | Clinical and Brain Imaging Heterogeneity of Severe Microcephaly | 1.7 | 32 | Citations (PDF) |
| 181 | A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism | 3.8 | 60 | Citations (PDF) |
| 182 | Association and Mutation Analyses of 16p11.2 Autism Candidate Genes | 2.3 | 92 | Citations (PDF) |
| 183 | A developmental and genetic classification for midbrain-hindbrain malformationsBrain, 2009, 132, 3199-3230 | 8.4 | 283 | Citations (PDF) |
| 184 | Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function | 3.8 | 93 | Citations (PDF) |
| 185 | The molecular landscape of ASPM mutations in primary microcephaly | 3.8 | 99 | Citations (PDF) |
| 186 | Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2 | 1.5 | 19 | Citations (PDF) |
| 187 | Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes | 1.5 | 34 | Citations (PDF) |
| 188 | A novel SIX3 mutation segregates with holoprosencephaly in a large family | 1.5 | 37 | Citations (PDF) |
| 189 | FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation | 25.2 | 276 | Citations (PDF) |
| 190 | Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous femalesBrain, 2009, 132, 1563-1576 | 8.4 | 201 | Citations (PDF) |
| 191 | Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED] | 1.0 | 273 | Citations (PDF) |
| 192 | Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q | 2.1 | 23 | Citations (PDF) |
| 193 | Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity | 2.9 | 37 | Citations (PDF) |
| 194 | Ethnically diverse causes of Walker-Warburg syndrome (WWS):FCMDmutations are a more common cause of WWS outside of the Middle East | 4.5 | 70 | Citations (PDF) |
| 195 | No major role for the
EMX2
gene in schizencephaly | 1.5 | 54 | Citations (PDF) |
| 196 | Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2 | 1.5 | 165 | Citations (PDF) |
| 197 | Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype | 1.5 | 49 | Citations (PDF) |
| 198 | Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome | 6.5 | 392 | Citations (PDF) |
| 199 | Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum | 25.2 | 275 | Citations (PDF) |
| 200 | Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type | 1.0 | 44 | Citations (PDF) |
| 201 | Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder | 5.4 | 278 | Citations (PDF) |
| 202 | Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options | 9.8 | 236 | Citations (PDF) |
| 203 | The molar tooth sign | 1.0 | 42 | Citations (PDF) |
| 204 | A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation | 2.9 | 42 | Citations (PDF) |
| 205 | Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia | 3.0 | 63 | Citations (PDF) |
| 206 | Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case | 1.2 | 23 | Citations (PDF) |
| 207 | Expansion of the first PolyA tract of
ARX
causes infantile spasms and status dystonicus | 1.0 | 151 | Citations (PDF) |
| 208 | Recurrent 16p11.2 microdeletions in autism | 2.9 | 683 | Citations (PDF) |
| 209 | Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling | 6.5 | 72 | Citations (PDF) |
| 210 | Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum | 6.5 | 155 | Citations (PDF) |
| 211 | The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneBrain, 2007, 130, 828-835 | 8.4 | 268 | Citations (PDF) |
| 212 | Pathological subtypes of polymicrogyria and brain development | 1.8 | 0 | Citations (PDF) |
| 213 | Identification of a novel recessiveRELN mutation using a homozygous balanced reciprocal translocation | 1.5 | 67 | Citations (PDF) |
| 214 | Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients | 1.5 | 111 | Citations (PDF) |
| 215 | Brain anomalies in encephalocraniocutaneous lipomatosis | 1.5 | 63 | Citations (PDF) |
| 216 | A developmental classification of malformations of the brainstem | 6.6 | 79 | Citations (PDF) |
| 217 | Truncation ofNHEJ1 in a patient with polymicrogyria | 4.5 | 33 | Citations (PDF) |
| 218 | Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations | 2.3 | 12 | Citations (PDF) |
| 219 | The pattern of inheritance of X‐linked traits is not dominant or recessive, just X‐linked | 1.6 | 6 | Citations (PDF) |
| 220 | Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsBrain, 2006, 129, 1892-1906 | 8.4 | 345 | Citations (PDF) |
| 221 | Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts | 0.7 | 23 | Citations (PDF) |
| 222 | Pitfalls of the Morphologic Approach | 1.8 | 0 | Citations (PDF) |
| 223 | Cerebellar Ataxia With Progressive Improvement | 6.8 | 5 | Citations (PDF) |
| 224 | Flores hominid: New species or microcephalic dwarf? | 2.0 | 84 | Citations (PDF) |
| 225 | Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation | 1.5 | 140 | Citations (PDF) |
| 226 | AHI1gene mutations cause specific forms of Joubert syndrome-related disorders | 6.6 | 136 | Citations (PDF) |
| 227 | Genotypically Defined Lissencephalies Show Distinct Pathologies | 1.8 | 114 | Citations (PDF) |
| 228 | Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | 25.2 | 215 | Citations (PDF) |
| 229 | Genetic links between brain development and brain evolution | 46.9 | 175 | Citations (PDF) |
| 230 | Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome | 1.5 | 60 | Citations (PDF) |
| 231 | Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes | 6.6 | 140 | Citations (PDF) |
| 232 | Interneuron deficits in patients with the Miller-Dieker syndrome | 9.1 | 47 | Citations (PDF) |
| 233 | Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype | 3.8 | 51 | Citations (PDF) |
| 234 | Periventricular nodular heterotopia with overlying polymicrogyriaBrain, 2005, 128, 2811-2821 | 8.4 | 81 | Citations (PDF) |
| 235 | A developmental and genetic classification for malformations of cortical development | 1.0 | 753 | Citations (PDF) |
| 236 | AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome | 3.8 | 124 | Citations (PDF) |
| 237 | Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus: A Rare Brain Malformation Syndrome Associated with Mental Retardation and Seizures | 1.2 | 67 | Citations (PDF) |
| 238 | Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation | 25.2 | 244 | Citations (PDF) |
| 239 | Septo-optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis | 0.5 | 50 | Citations (PDF) |
| 240 | Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes | 0.5 | 228 | Citations (PDF) |
| 241 | Inheritance of most X-linked traits is not dominant or recessive, just X-linked | 0.5 | 158 | Citations (PDF) |
| 242 | Mutations ofARX are associated with striking pleiotropy and consistent genotype-phenotype correlation | 4.5 | 325 | Citations (PDF) |
| 243 | Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5
as a candidate gene | 4.6 | 11 | Citations (PDF) |
| 244 | MICRO syndrome: An entity distinct from COFS syndrome | 0.5 | 54 | Citations (PDF) |
| 245 | Toriello-Carey syndrome: Delineation and review | 0.5 | 33 | Citations (PDF) |
| 246 | Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 | 6.6 | 128 | Citations (PDF) |
| 247 | Nonsyndromic mental retardation and cryptogenic epilepsy in women withDoublecortin gene mutations | 6.6 | 69 | Citations (PDF) |
| 248 | Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32 | 3.0 | 42 | Citations (PDF) |
| 249 | 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome | 25.2 | 398 | Citations (PDF) |
| 250 | Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents | 1.8 | 54 | Citations (PDF) |
| 251 | Human malformations of the midbrain and hindbrain: review and proposed classification scheme | 1.3 | 220 | Citations (PDF) |
| 252 | Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3 | 6.5 | 265 | Citations (PDF) |
| 253 | Lissencephaly and the molecular basis of neuronal migration | 2.9 | 299 | Citations (PDF) |
| 254 | Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature | 1.2 | 37 | Citations (PDF) |
| 255 | Mosaic mutations of the
LIS1
gene cause subcortical band heterotopia | 1.0 | 122 | Citations (PDF) |
| 256 | Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesBrain, 2002, 125, 2507-2522 | 8.4 | 114 | Citations (PDF) |
| 257 | Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome | 6.5 | 661 | Citations (PDF) |
| 258 | Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1) | 4.5 | 160 | Citations (PDF) |
| 259 | Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans | 25.2 | 690 | Citations (PDF) |
| 260 | LIS1: from cortical malformation to essential protein of cellular dynamics | 9.8 | 39 | Citations (PDF) |
| 261 | Radiologic classification of malformations of cortical development | 3.8 | 61 | Citations (PDF) |
| 262 | Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia | 3.0 | 154 | Citations (PDF) |
| 263 | LIS1
missense mutations cause milder lissencephaly phenotypes including a child with normal IQ | 1.0 | 50 | Citations (PDF) |
| 264 | Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 | 3.8 | 89 | Citations (PDF) |
| 265 | Lissencephaly with Cerebellar Hypoplasia (LCH): A Heterogeneous Group of Cortical Malformations | 1.2 | 135 | Citations (PDF) |
| 266 | X-linked malformations of cortical development | 0.5 | 23 | Citations (PDF) |
| 267 | Genetic and neuroradiological heterogeneity of double cortex syndrome | 6.6 | 100 | Citations (PDF) |
| 268 | Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis | 2.5 | 25 | Citations (PDF) |
| 269 | Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings | 1.8 | 65 | Citations (PDF) |
| 270 | Bilateral frontal polymicrogyria | 1.0 | 125 | Citations (PDF) |
| 271 | Polymicrogyria and Motor Neuropathy in Micro Syndrome | 1.2 | 14 | Citations (PDF) |
| 272 | Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes | 6.5 | 140 | Citations (PDF) |
| 273 | Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development | 2.6 | 49 | Citations (PDF) |
| 274 | Microcephaly with Simplified Gyral Pattern (Oligogyric Microcephaly) and Microlissencephaly | 1.2 | 38 | Citations (PDF) |
| 275 | Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1 | 2.9 | 148 | Citations (PDF) |
| 276 | Rapid onset dystonia parkinsonism in a 14-year-old girl | 1.8 | 18 | Citations (PDF) |
| 277 | Characterization of mutations in the genedoublecortin in patients with double cortex syndrome | 6.6 | 181 | Citations (PDF) |
| 278 | Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13 | 6.6 | 97 | Citations (PDF) |
| 279 | Homonucleotide expansion and contraction mutations ofPAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome | 4.5 | 46 | Citations (PDF) |
| 280 | Microcephaly with simplified gyral pattern in six related children 1999, 84, 137-144 | | 27 | Citations (PDF) |
| 281 | Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3 1999, 85, 369-375 | | 52 | Citations (PDF) |
| 282 | X-linked lissencephaly with absent corpus callosum and ambiguous genitalia | 0.5 | 131 | Citations (PDF) |
| 283 | Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome | 0.5 | 145 | Citations (PDF) |
| 284 | Familial lissencephaly with cleft palate and severe cerebellar hypoplasia | 0.5 | 28 | Citations (PDF) |
| 285 | Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly | 1.0 | 202 | Citations (PDF) |
| 286 | Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism | 6.6 | 52 | Citations (PDF) |
| 287 | doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein | 33.6 | 1,106 | Citations (PDF) |
| 288 | Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia | 11.0 | 856 | Citations (PDF) |
| 289 | Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation | 1.0 | 74 | Citations (PDF) |
| 290 | Classical lissencephaly syndromes: does the face reflect the brain? | 3.8 | 34 | Citations (PDF) |
| 291 | Microlissencephaly: A Heterogeneous Malformation of Cortical Development | 1.2 | 100 | Citations (PDF) |
| 292 | Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects | 2.9 | 91 | Citations (PDF) |
| 293 | Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence | 4.2 | 50 | Citations (PDF) |
| 294 | Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome | 2.9 | 308 | Citations (PDF) |
| 295 | Rapid‐onset dystonia‐parkinsonism in a second family | 1.0 | 108 | Citations (PDF) |
| 296 | Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain | 2.9 | 85 | Citations (PDF) |
| 297 | Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome | 1.0 | 95 | Citations (PDF) |
| 298 | A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3 | 2.9 | 179 | Citations (PDF) |
| 299 | Valproate-induced liver failure in one of two siblings with alpers disease | 1.7 | 46 | Citations (PDF) |
| 300 | Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia | 6.5 | 77 | Citations (PDF) |
| 301 | Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel | 25.2 | 1,667 | Citations (PDF) |
| 302 | Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset | 6.6 | 277 | Citations (PDF) |
| 303 | Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities | 0.5 | 146 | Citations (PDF) |
| 304 | Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16 | 4.5 | 37 | Citations (PDF) |
| 305 | Autosomal dominant torsion dystonia with onset in infancy | 1.7 | 1 | Citations (PDF) |
| 306 | Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations | 2.1 | 23 | Citations (PDF) |
| 307 | Variable phenotype of rapid-onset dystonia-parkinsonism | 4.6 | 67 | Citations (PDF) |
| 308 | Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism 1996, 63, 314-317 | | 6 | Citations (PDF) |
| 309 | Chromosome X and 17-linked lissencephaly (smooth brain) syndromes | 3.6 | 2 | Citations (PDF) |
| 310 | Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I | 3.4 | 25 | Citations (PDF) |
| 311 | A Classification Scheme for Malformations of Cortical Development | 1.2 | 403 | Citations (PDF) |
| 312 | Cobblestone Lissencephaly with Normal Eyes and Muscle | 1.2 | 38 | Citations (PDF) |
| 313 | Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation | 0.5 | 101 | Citations (PDF) |
| 314 | Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals | 0.5 | 136 | Citations (PDF) |
| 315 | Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies | 0.5 | 69 | Citations (PDF) |
| 316 | Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux | 25.2 | 649 | Citations (PDF) |
| 317 | Lissencephaly and Other Malformations of Cortical Development: 1995 Update | 1.2 | 326 | Citations (PDF) |
| 318 | Congenital muscular dystrophies: Clinical review and proposed classification | 1.7 | 19 | Citations (PDF) |
| 319 | Childhood stroke and lupus anticoagulant | 1.7 | 27 | Citations (PDF) |
| 320 | Idiopathic intracranial hypertension and facial diplegia | 1.0 | 24 | Citations (PDF) |
| 321 | Familial remitting chorea, nystagmus, and cataracts | 0.5 | 7 | Citations (PDF) |
| 322 | Clinical manifestations and evaluation of isolated lissencephaly | 0.9 | 26 | Citations (PDF) |
| 323 | Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats | 37.9 | 1,075 | Citations (PDF) |
| 324 | Benign hereditary chorea | 1.7 | 27 | Citations (PDF) |
| 325 | Rapid‐onset dystonia‐parkinsonism | 1.0 | 215 | Citations (PDF) |
| 326 | Lissencephaly | 16.5 | 315 | Citations (PDF) |
| 327 | Antibodies to ACTH in Opsoclonus-Myoclonus | 1.2 | 10 | Citations (PDF) |
| 328 | Mechanisms of Interhemispheric Transfer and Patterns of Cognitive Function in Acallosal Patients of Normal Intelligence | 6.8 | 112 | Citations (PDF) |
| 329 | Causal heterogeneity in isolated lissencephaly | 1.0 | 121 | Citations (PDF) |
| 330 | Epidermal nevus syndrome | 1.0 | 171 | Citations (PDF) |
| 331 | Vascular abnormalities in epidermal nevus syndrome | 1.0 | 44 | Citations (PDF) |
| 332 | Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction | 2.9 | 53 | Citations (PDF) |
| 333 | Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease | 0.5 | 13 | Citations (PDF) |
| 334 | Isolated Lissencephaly: Report of Four Patients From Two Unrelated Families | 1.5 | 26 | Citations (PDF) |
| 335 | Plasmapheresis with acute inflammatory polyneuropathy | 1.7 | 31 | Citations (PDF) |
| 336 | The Neurogenetics of Lissencephaly | 2.6 | 70 | Citations (PDF) |
| 337 | Diagnostic criteria for Walker‐Warburg syndrome | 0.5 | 451 | Citations (PDF) |
| 338 | Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine | 2.0 | 27 | Citations (PDF) |
| 339 | Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia | 1.0 | 114 | Citations (PDF) |
| 340 | Familial cavernous malformations of the central nervous system and retina | 6.6 | 127 | Citations (PDF) |
| 341 | Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17 | 0.5 | 38 | Citations (PDF) |
| 342 | Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes | 0.5 | 222 | Citations (PDF) |
| 343 | Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome | 0.5 | 133 | Citations (PDF) |
| 344 | Deficiency of chromosome 8p21.1→8pter: Case report and review of the literature | 0.5 | 36 | Citations (PDF) |
| 345 | Syndromes with lissencephaly. II: Walker-Warburg and Cerebro-Oculo-Muscular syndromes and a new syndrome with type II lissencephaly | 0.5 | 151 | Citations (PDF) |
| 346 | Further comments on the lissencephaly syndromes | 0.5 | 62 | Citations (PDF) |
| 347 | Syndromes with lissencephaly. I: Millerdieker and Norman-Roberts syndromes and isolated lissencephaly | 0.5 | 223 | Citations (PDF) |
| 348 | Miller-Dieker syndrome: Lissencephaly andmonosomy 17p | 2.0 | 175 | Citations (PDF) |
| 349 | Unsuccessful physostigmine therapy in Reye syndrome | 6.6 | 1 | Citations (PDF) |
| 350 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome | 0.7 | 74 | Citations (PDF) |
| 351 | Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy | 0.7 | 108 | Citations (PDF) |
| 352 | Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms | 0.7 | 47 | Citations (PDF) |
| 353 | Pontocerebellar hypoplasia: a review from 1912 to 2022 | 3.6 | 4 | Citations (PDF) |
| 354 | Beyond hearing loss: exploring neurological and neurodevelopmental sequelae in asymptomatic congenital cytomegalovirus infection | 2.2 | 11 | Citations (PDF) |
| 355 | Response to Kane and Coleman | 4.2 | 0 | Citations (PDF) |
| 356 | Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge | 2.8 | 0 | Citations (PDF) |
