M. Shinawi

发表

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

J. Lupski, S. Cheung, Yang Zhao, 2015, The New England journal of medicine.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

DeSanto-Shinawi Syndrome: First Case in South America

M. Shinawi, S. Vanegas, Diana Ramírez-Montaño, 2018, Molecular Syndromology.

The array CGH and its clinical applications.

S. Cheung, M. Shinawi, 2008, Drug discovery today.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

P. Stankiewicz, E. Roeder, Ankita Patel, 2009, Journal of Medical Genetics.

Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

M. Shinawi, A. Telegrafi, E. Fassi, 2018, Molecular genetics & genomic medicine.

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

M. Shinawi, J. Wheless, J. Hansen, 2015, American journal of human genetics.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

ADULT syndrome due to an R243W mutation in TP63

Nicole L. Armstrong, M. Shinawi, A. Whelan, 2012, International journal of dermatology.

Case Communicat ions Infantile Familial Mediterranean Fever

R. Gershoni-baruch, M. Shinawi, R. Brik, 2003 .

Pulmonary manifestations and function tests in children genetically diagnosed with FMF

R. Gershoni-baruch, M. Shinawi, L. Bentur, 2003, Pediatric pulmonology.

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

R. Gershoni-baruch, M. Shinawi, R. Brik, 2002, American journal of medical genetics.

The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease.

R. Gershoni-baruch, M. Shinawi, R. Brik, 2001, Arthritis and rheumatism.

Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain.

R. Gershoni-baruch, M. Shinawi, R. Shamir, 2001, The Journal of pediatrics.

Familial Mediterranean Fever: Clinical and Genetic Characterization in a Mixed Pediatric Population of Jewish and Arab Patients

M. Berant, R. Gershoni-baruch, M. Shinawi, 1999, Pediatrics.

Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

Joshua C. Euteneuer, J. Lupski, S. Kulkarni, 2014, Clinical genetics.

Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic

T. Druley, K. Trinkaus, M. Shinawi, 2019, Journal of pediatric hematology/oncology.

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

O. Lichtarge, H. Waterham, M. Shinawi, 2011, American journal of medical genetics. Part A.

Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome

S. Kulkarni, M. Shinawi, F. S. Cole, 2013, American journal of medical genetics. Part A.

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

M. Shinawi, D. Ory, P. Dickson, 2021, Molecular genetics and metabolism reports.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Soma Das, M. Shinawi, D. del Gaudio, 2014, Gene.

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

C. Eng, M. Shinawi, U. Ramaswami, 2011, Genetics in Medicine.

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

C. Eng, M. Shinawi, U. Ramaswami, 2006, Genetics in Medicine.

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

J. Shimony, S. Kulkarni, M. Shinawi, 2013, American journal of medical genetics. Part A.

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

Ankita Patel, A. Beaudet, C. Skinner, 2012, American journal of medical genetics. Part A.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2021, American journal of human genetics.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

M. Shinawi, D. Wegner, Parith Wongkittichote, 2021, Journal of Human Genetics.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

R. McKinstry, M. Shinawi, C. Skrypnyk, 2021, Neurology: Genetics.

Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

M. Shinawi, 2007, Clinical pediatrics.

A 5-month-old boy with delay in growth and development and decreased muscle tone.

M. Shinawi, C. Lockwood, V. Hucthagowder, 2015, Clinical chemistry.

Splicing mutation in the fibrillin‐1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

H. Mandel, M. Shinawi, C. Boileau, 2005, Pediatric pulmonology.

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

M. Shinawi, L. Wong, A. Shaibani, 2009, Muscle & nerve.

Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

M. Shinawi, L. Potocki, F. Porter, 2005, American journal of medical genetics. Part A.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

R. Taft, M. Shinawi, S. Dahiya, 2021, American journal of medical genetics. Part A.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Z. Niu, M. Shinawi, R. Schnur, 2015, Journal of Medical Genetics.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome

J. Shimony, A. Wineland, M. Shinawi, 2017, JAMA otolaryngology-- head & neck surgery.

Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation.

R. Gershoni-baruch, M. Shinawi, R. Brik, 2003, The Journal of rheumatology.

leukemia caused by constitutional microdeletions on chromosome 21q Syndromic thrombocytopenia and predisposition to acute myelogenous

A. C. Chinault, S. Cheung, S. Plon, 2013 .

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

A. C. Chinault, S. Cheung, S. Plon, 2008, Blood.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

S. Lalani, M. Shinawi, V. Sutton, 2019, Front. Neurosci..

Tumor predisposition: what's the skin got to do with it?

M. Shinawi, C. Coughlin, Andrea Stacy, 2022, Current opinion in pediatrics.

Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient

M. Shinawi, D. Dietzen, I. Miousse, 2011, Pediatrics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

O. Lichtarge, M. Shinawi, Panagiotis Katsonis, 2009, Archives of neurology.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

W. Chung, D. Segal, J. Graham, 2019, neurogenetics.

McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses

M. Shinawi, L. Dehner, S. Sarwate, 2010, Pediatric Radiology.

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions

S. Kulkarni, M. Shinawi, L. Manwaring, 2013, American journal of medical genetics. Part A.

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

S. Kulkarni, M. Shinawi, D. Grange, 2016, American journal of medical genetics. Part A.

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

W. Craigen, M. Shinawi, A. El-Hattab, 2017, Clinical genetics.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities

R. McKinstry, M. Shinawi, Stephanie M Morris, 2019, Clinical genetics.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Hyperhomocysteinemia and cobalamin disorders.

M. Shinawi, 2007, Molecular genetics and metabolism.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Ankita Patel, Marwan Shinawi, Ankita Patel, 2011, American journal of medical genetics. Part A.

The Xp contiguous deletion syndrome and autism

Ankita Patel, M. Shinawi, F. Scaglia, 2009, American journal of medical genetics. Part A.

CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression

R. Wilson, R. Fulton, T. Ley, 2017, Cell.

Primary Mitochondrial Disorders in the Neonate.

M. Shinawi, R. Starosta, 2022, NeoReviews.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Bekim Sadikovic, Roger E. Stevenson, Daniel H. Geschwind, 2012, Proceedings of the National Academy of Sciences.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization

S. Cheung, N. Brunetti‐Pierri, C. Chinault, 2008, American journal of medical genetics. Part A.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

N. Brown, A. Toutain, M. Shinawi, 2021, Human molecular genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2020, bioRxiv.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Marwan Shinawi, S. Cheung, A. Beaudet, 2008, Nature Genetics.

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

R. Gershoni-baruch, M. Shinawi, R. Brik, 2002, European Journal of Human Genetics.

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Christopher A. Miller, Harrison W. Gabel, T. Ley, 2021, Nature Communications.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human Genetics.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

P. Gubellini, B. Jacq, N. Šestan, 2016, Nature Genetics.

A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

R. Schmidt, M. Shinawi, Rita T. Brookheart, 2019, Molecular genetics & genomic medicine.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

W. Chung, Yufeng Shen, M. Shinawi, 2016, neurogenetics.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes

J. Shimony, M. Shinawi, D. Grange, 2015, Clinical genetics.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Mahshid S. Azamian, Magalie S Leduc, B. Coe, 2016, American journal of human genetics.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

Shaun A. Hussain, M. Shinawi, B. Paul, 2020, Human mutation.

Preaxial polydactyly in neurofibromatosis 1.

M. Shinawi, M. Patel, 2007, Clinical dysmorphology.

Low‐level mosaicism of trisomy 14: Phenotypic and molecular characterization

L. Shao, Ankita Patel, C. Shaw, 2008, American journal of medical genetics. Part A.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

M. Shinawi, G. Raca, D. del Gaudio, 2020, Genetics in Medicine.

Digynic triploidy: utility and challenges of noninvasive prenatal testing

M. Shinawi, K. Goetzinger, C. Cottrell, 2015, Clinical case reports.

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

M. Shinawi, Hongjun Zheng, A. McAlinden, 2020, Bone.

Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?

M. L. Cooper, S. Cheung, D. Grignon, 2010, American journal of medical genetics. Part A.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Wilms tumor in patients with osteopathia striata with cranial sclerosis

S. Robertson, M. Shinawi, E. Trevisson, 2020, European Journal of Human Genetics.

Progressive myopathy with multiple symmetric lipomatosis.

N. Brunetti‐Pierri, M. Shinawi, L. Wong, 2009, Archives of neurology.

A. Radmanesh, M. Shinawi, M. Miller-Thomas, 2015, Skeletal Radiology.

The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

M. Shinawi, K. Dent, J. Carey, 2017, American journal of medical genetics. Part A.

Crouzon syndrome: Association with absent pulmonary valve syndrome and severe tracheobronchomalacia

M. Shinawi, R. Beck, R. Brik, 2002, Pediatric pulmonology.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, A. Beaudet, S. Lalani, 2017, Journal of autism and developmental disorders.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, S. Lalani, M. Shinawi, 2016, Journal of Autism and Developmental Disorders.

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Dustin Baldridge, Marwan Shinawi, M. Shinawi, 2017, Genetics in Medicine.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 2019, American journal of human genetics.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

O. Lichtarge, M. Shinawi, Panagiotis Katsonis, 2018, Bone.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

V. Narayanan, M. Shinawi, D. Koeberl, 2022, Clinical Genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome

M. Shinawi, T. Pearson, K. Ueda, 2021, Neurology: Genetics.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

B. Schlaggar, J. Shimony, M. Shinawi, 2014, American journal of medical genetics. Part A.

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

S. Kulkarni, M. Shinawi, N. Hauser, 2014, American journal of medical genetics. Part A.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Ankita Patel, J. Hunter, M. Shinawi, 2011, European Journal of Human Genetics.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

S. Leal, R. Stevenson, G. B. Schaefer, 2019, bioRxiv.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

Child Neurology: Brown-Vialetto-Van Laere syndrome

M. Shinawi, S. Culican, Robi N Maamari, 2018, Neurology.

Dramatic visual recovery after delayed riboflavin therapy

M. Shinawi, S. Culican, Robi N Maamari, 2022 .

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

R. Carrozzo, M. Shinawi, M. Tartaglia, 2020, American journal of human genetics.

The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations

Marwan Shinawi, A. Beaudet, M. Shinawi, 2009, Autism research : official journal of the International Society for Autism Research.

Is this the Coffin–Siris syndrome or the BOD syndrome?

M. Shinawi, A. Brautbar, J. Ragsdale, 2009, American journal of medical genetics. Part A.

Gastrointestinal tract cytomegalovirus infection with prolonged vomiting and fever in an immunocompetent child.

M. Shinawi, R. Brik, D. Berkowitz, 2001, The Israel Medical Association journal : IMAJ.

Acute Intermittent Porphyria

M. Shinawi, M. Wong, S. Ahn, 2012, Journal of child neurology.

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

M. Shinawi, W. Mcalister, A. Superti-Furga, 2019, Bone.

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

W. Chung, J. Shimony, M. Shinawi, 2018, Human mutation.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain-of-function.

M. Shinawi, M. Dinauer, M. Cella, 2020, Blood.

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

A. Pestronk, T. Strom, R. Schmidt, 2017, Human mutation.

Early-onset hepatic fibrosis in lysinuric protein intolerance.

M. Shinawi, D. Dietzen, A. Weymann, 2011, Journal of pediatric gastroenterology and nutrition.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

S. Leal, R. Stevenson, G. B. Schaefer, 2020, American journal of human genetics.

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

J. Steinberger, M. Shinawi, K. Rudser, 2020, Orphanet Journal of Rare Diseases.

Familial Mediterranean fever: prevalence, penetrance and genetic drift

R. Gershoni-baruch, M. Shinawi, R. Brik, 2001, European Journal of Human Genetics.

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

M. Shinawi, Ruth Gershoni‐Baruch, Ilana Kepten, 1999, Human mutation.

Increased homocysteine in a patient diagnosed with Marfan syndrome.

M. Shinawi, D. Dietzen, O. Oladipo, 2010, Clinical chemistry.

Adult-onset dystonia with marfanoid features.

J. Perlmutter, M. Shinawi, S. Norris, 2017, Neurology. Clinical practice.

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.

M. Shinawi, Yoshiko Mito, I. Amarillo, 2020, European journal of medical genetics.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

M. Shinawi, P. Jayakar, A. Innes, 2019, European Journal of Human Genetics.

Biallelic variants in RNU12 cause CDAGS syndrome

M. Shinawi, Richard C. Wang, A. Irvine, 2021, Human mutation.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

M. Shinawi, L. Refosco, I. Schwartz, 2023, Biomedicines.

Pediatric Population of Jewish and Arab Patients Familial Mediterranean Fever : Clinical and Genetic Characterization in a Mixed Services

M. Berant, R. Gershoni-baruch, M. Shinawi, 1999 .

Familial Mediterranean fever: high gene frequency and heterogeneous disease among an Israeli-Arab population.

M. Berant, R. Gershoni-baruch, M. Shinawi, 2000, The Journal of rheumatology.

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

M. Shinawi, A. Arbeláez, L. Dehner, 2018, Journal of clinical research in pediatric endocrinology.

Multiple ganglion cysts (‘cystic ganglionosis’): an unusual presentation in a child

M. Shinawi, R. P. Guillerman, J. Jones, 2007, Scandinavian journal of rheumatology.

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

H. Freeze, M. Shinawi, M. He, 2022, Journal of inherited metabolic disease.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

W. Chung, M. Shinawi, M. Yudkoff, 2015, Journal of Medical Genetics.

Delineation of the proximal 3q microdeletion syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008, American Journal of Medical Genetics. Part A.

Clinical Report Delineation of the Proximal 3q Microdeletion Syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008 .

Multi‐systemic involvement in NGLY1‐related disorder caused by two novel mutations

M. Shinawi, Jennifer Heeley, 2015, American journal of medical genetics. Part A.

Neurological Improvement in a Patient with Cerebroretinal Microangiopathy with Calcifications and Cysts-1 Treated with Bevacizumab

S. Agner, M. Shinawi, S. Mar, 2022, Annals of Child Neurology.

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

M. Shinawi, Kwang-Soo Kim, S. Parikh, 2021, Nature Communications.

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene

R. Lewis, M. Shinawi, L. Wong, 2015, The International journal of neuroscience.

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

M. Shinawi, Daniel J. Parente, M. Cho, 2017, American journal of medical genetics. Part A.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

D. Segal, J. Graham, M. Shinawi, 2019, neurogenetics.

Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

T. Klein, E. Lyon, M. Goetz, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy

M. Shinawi, K. Aagaard-Tillery, H. Mendez-Figueroa, 2010, Journal of Perinatology.

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

M. Shinawi, A. Shaibani, Shaida Khan, 2021, Neurology: Genetics.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults.

T. Ley, M. Oberley, S. Heath, 2021, Blood.

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

J. Shimony, D. Spencer, M. Shinawi, 2018, Pediatric Research.

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.

M. Shinawi, E. Bellacchio, C. Dallabona, 2023, Molecular genetics and metabolism.

Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia.

M. Shinawi, H. Nguyễn, R. Langley, 2023, Molecular genetics and metabolism.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations*

J. Shimony, M. Shinawi, M. Brini, 2015, The Journal of Biological Chemistry.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human Genetics.

Response to Mounts and Besser

M. Shinawi, G. Raca, D. Gaudio, 2020, Genetics in Medicine.

Support for the Diagnosis of CHARGE Syndrome-Reply.

M. Shinawi, K. Hirose, 2017, JAMA otolaryngology-- head & neck surgery.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

The Xp contiguous deletion syndrome and autism

Ankita Patel, M. Shinawi, F. Scaglia, 2009, American journal of medical genetics. Part A.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Lisa T. Emrick, S. Lalani, M. Shinawi, 2019, Front. Neurosci..

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

P. May, P. Striano, A. Wuster, 2023, Brain : a journal of neurology.

M. Shinawi, B. Cogné, Georgia Vasileiou, 2023, Clinical genetics.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

S. Cheung, A. Beaudet, R. Person, 2008, Nature Genetics.

Neurodevelopmental Delay Associated With Nonconvulsive Status Epilepticus in a Toddler

E. Shahar, M. Shinawi, M. Shinawi, 2001, Journal of child neurology.

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

M. Shinawi, A. Chinault, Brendan H. Lee, 2008, Blood.