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| 36579410 | A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. | Am J Med Genet A | 2023 |
| 37852041 | Inability to move one's face dampens facial expression perception. | Cortex | 2023 |
| 37675855 | Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. | Am J Med Genet A | 2023 |
| 36579410 | A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. | Am J Med Genet A | 2023 |
| 36881526 | Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. | Elife | 2023 |
| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 37191084 | Novel biallelic variants expand the phenotype of NAA20-related syndrome. | Clin Genet | 2023 |
| 37852041 | Inability to move one's face dampens facial expression perception. | Cortex | 2023 |
| 37675855 | Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. | Am J Med Genet A | 2023 |
| 37191084 | Novel biallelic variants expand the phenotype of NAA20-related syndrome. | Clin Genet | 2023 |
| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 36881526 | Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. | Elife | 2023 |
| 33389762 | Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. | Muscle Nerve | 2021 |
| 34230638 | Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. | Genet Med | 2021 |
| 33840812 | Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis. | Eur J Hum Genet | 2021 |
| 33783914 | Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. | Hum Mutat | 2021 |
| 33827624 | A framework for the evaluation of patients with congenital facial weakness. | Orphanet J Rare Dis | 2021 |
| 33389762 | Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. | Muscle Nerve | 2021 |
| 34652576 | TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. | Hum Genet | 2021 |
| 33827624 | A framework for the evaluation of patients with congenital facial weakness. | Orphanet J Rare Dis | 2021 |
| 33783914 | Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. | Hum Mutat | 2021 |
| 33840812 | Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis. | Eur J Hum Genet | 2021 |
| 34652576 | TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. | Hum Genet | 2021 |
| 34230638 | Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. | Genet Med | 2021 |
| 30877278 | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | Eur J Hum Genet | 2020 |
| 32134193 | Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects. | Am J Med Genet A | 2020 |
| 31880409 | Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients. | Mol Genet Genomic Med | 2020 |
| 32328577 | Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. | Brain Commun | 2020 |
| 32750333 | Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. | Immunity | 2020 |
| 33426504 | Mitochondrial translation defects and human disease. | J Transl Genet Genom | 2020 |
| 31477843 | Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | Eur J Hum Genet | 2020 |
| 30877278 | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | Eur J Hum Genet | 2020 |
| 31880409 | Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients. | Mol Genet Genomic Med | 2020 |
| 33426504 | Mitochondrial translation defects and human disease. | J Transl Genet Genom | 2020 |
| 32750333 | Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. | Immunity | 2020 |
| 32328577 | Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. | Brain Commun | 2020 |
| 32134193 | Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects. | Am J Med Genet A | 2020 |
| 31477843 | Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | Eur J Hum Genet | 2020 |
| 31520968 | Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement". | J Neurol Sci | 2019 |
| 31520968 | Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement". | J Neurol Sci | 2019 |
| 29314548 | Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. | Hum Mutat | 2018 |
| 29625026 | Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. | Am J Hum Genet | 2018 |
| 29314548 | Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. | Hum Mutat | 2018 |
| 29625026 | Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. | Am J Hum Genet | 2018 |
| 27415407 | Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. | Clin Genet | 2017 |
| 28777931 | Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. | Am J Hum Genet | 2017 |
| 28777491 | Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. | Am J Med Genet A | 2017 |
| 28681861 | A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. | Nat Commun | 2017 |
| 27415407 | Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. | Clin Genet | 2017 |
| 28054444 | Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. | Hum Mutat | 2017 |